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TRN4227417 8957319 1193776 Clinical Report 22 02 25 1 1740228776705451

The report details genetic testing results for a 25-year-old female patient, Shazia, suspected of having Acute Myeloid Leukemia (AML). Key mutations identified include IDH1, NPM1, and SRSF2, with therapeutic implications for treatments such as Ivosidenib and Azacitidine. The report emphasizes the clinical significance of these mutations in AML prognosis and treatment options.

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0% found this document useful (0 votes)
9 views17 pages

TRN4227417 8957319 1193776 Clinical Report 22 02 25 1 1740228776705451

The report details genetic testing results for a 25-year-old female patient, Shazia, suspected of having Acute Myeloid Leukemia (AML). Key mutations identified include IDH1, NPM1, and SRSF2, with therapeutic implications for treatments such as Ivosidenib and Azacitidine. The report emphasizes the clinical significance of these mutations in AML prognosis and treatment options.

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Shazia

AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

MGM2450: Comprehensive Myeloid and Lymphoid Panel by NGS (SNVs, InDels, CNVs & Fusions)

Report Details Specimen Information Ordering Clinician


Sample ID / Order ID: 8957319 / 1193776 Specimen Site: NA Clinician: Dr. Imran
th
Collection Date: 5 February 2025 Specimen Received: Bone Marrow Aspirate Affiliation: Mediquest Lab Services -
th
Date Received: 9 February 2025 (BMA) in EDTA Chandigarh
nd
Report Date & Time: 22 Feb 2025 18:08 PM Specimen Tested: Bone Marrow Aspirate Serviced By: NA
(BMA) in EDTA Report Status: Final
Tumor Content: NA

CLINICAL BACKGROUND
Suspected Acute Myeloid Leukemia (AML) [as per the clinical details shared via email dated; 14-02-2025].

Test Result Summary

Result - POSITIVE
CLINICALLY RELEVANT VARIANT/S DETECTED in IDH1, SRSF2, NPM1

Gene/AMP
Clinical relevance Therapeutic relevance $ Interpretation
Classification ^
Genomic Variants

IDH1 - p.Arg132Cys (MISSENSE) Variant Allele Frequency - 46.79%

Tier IA US-FDA has approved Ivosidenib


(Variant of strong clinical Olutasidenib,Ivosidenib,Azacitidine + (Tibsovo) and Olutasidenib (Rezlidhia) for
Effective relapsed or refractory AML with a
significance & FDA Ivosidenib
approved Therapy) susceptible IDH1 mutation.

NPM1 - p.Trp288CysfsTer12 (FRAMESHIFT-INS) Variant Allele Frequency - 18.04%

Tier IIC
Azacitidine + Venetoclax, Cytarabine + NPM1 in the absence of FLT3-ITD is
(Variant of potential Effective considered as a favourable risk category
Venetoclax (Offlabel)
clinical significance)

SRSF2 - p.Pro95His (MISSENSE) Variant Allele Frequency - 45.98%

Tier IIC SRSF2 mutations are associated with


(Variant of potential Effective Talazoparib (Off-label) poor overall survival and transformation
clinical significance) to AML in MDS patients.

No clinically significant CNVs and Fusions have been detected in this sample
^ Refer to Glossary section for the classification criteria details.
$Drug Approvals are based on US-FDA Guidelines. Kindly refer to local guidelines if required.

ADDITIONAL BIOMARKERS DETECTED


This section provides information about variants that do not have any therapeutic value. However, these variants may or may not have a likely
oncogenic effect.

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 1 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

GLOSSARY
AMP Classification Criteria: Displays the classification of a biomarker according to the recommendations of the Association for Molecular
Pathology (AMP) [PMID: 27993330].

Tier Criteria

Tier IA Variants of strong clinical significance. FDA-approved therapy or biomarkers included in professional guidelines.

Tier IB Variants of strong clinical significance. Well-powered studies with consensus from experts in the field.

Tier IIC Variants of potential clinical significance. FDA-approved therapies for different cancer types or investigational therapies. Multiple small
published studies with some consensus.

Tier IID Variants of potential clinical significance. Preclinical trials or a few case reports without consensus.

Tier III Variants of unknown clinical significance.

Tier IV Benign or likely benign variants.

Drug approval:
The development stage of the treatment for the patient's indication as per US-FDA guidelines.

Stage Definition

Approved This drug is launched for the primary or a secondary patient disease

Off-Label This drug is launched for a disease other than the primary or secondary patient diseases

Investigational This drug is currently under clinical development in the patient disease.

Other None of the other stages are applicable. The drug or drug class is, for example, suspended, discontinued, or withdrawn.

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 2 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

ACTIONABLE BIOMARKER DETAILS

IDH1 (p.Arg132Cys) - MISSENSE

Gene: IDH1 Exon: 4 Variant Allele Frequency: 46.79%

Nucleotide change: chr2:g.208248389G>A Protein change: p.Arg132Cys Population MAF: NA


(1000G);0.00066(gnomAD);

cDNA change: c.394C>T Variant Type: MISSENSE In-silico Predictions: D_lc(SIFT); D(LRT);
NA(Polyphen2)

Transcript ID: ENST00000345146.7 Variant Allele Depth/Total depth: 204/436x Gene Function: Oncogene

Gene Summary: IDH1 gene encodes isocitrate dehydrogenase [NADP] that is found primarily in cytoplasm and catalyzes the conversion of
isocitrate to alpha-ketoglutarate (alpha-KG). Mutations in IDH1 convert alpha-KG to 2-HG, which is an oncogenic metabolite, that causes tumor
formation and progression. This variant has been reported as pathogenic in Acute Myeloid Leukemia (AML) as per the ClinVar database (
RCV000445302.7).

Clinical and Therapeutic Relevance: Mutations at codon 132 of IDH1 lead to increased production of the oncometabolite 2-
hydroxyglutarate and are mainly found in glial tumors, chondrosarcoma, intrahepatic cholangiocarcinoma, and acute myeloid leukemia (AML).
IDH mutations are more frequently observed in patients with intermediate-risk cytogenetics, including trisomy 8, and are particularly frequent in
normal karyotype AML. In AML, Ivosidenib is indicated for the treatment of IDH1-mutated relapsed or refractory AML and for the treatment of
newly diagnosed AML patients that are either not eligible for intensive induction chemotherapy or are 75 years or older, as monotherapy or in
combination with Azacitidine. Ivosidenib is also indicated for adult patients with relapsed or refractory myelodysplastic syndromes (MDS) with a
susceptible isocitrate dehydrogenase-1 (IDH1) mutation. The mIDH1 inhibitor Olutasidenib is indicated for adult patients with relapsed or
refractory AML. In a phase I clinical trial of patients with IDH1-mutant AML, BAY1436032 showed an overall response rate (ORR) of 15%; stable
disease (SD) was achieved in 30% of cases. One preclinical study found a synergistic effect of BAY1436032 and Azacitidine in IDH1-mutated AML.
However, the correlation between IDH1 mutation and response to DNA methyltransferase inhibitors, such as Decitabine or Azacitidine, remains
unclear.
Gain-of-function mutations at codon 132 lead to an accumulation of the oncometabolite (R)-2-hydroxyglutarate (R-2HG). IDH1 and 2 have
prognostic and therapeutic relevance and are a standard part of diagnostic and molecular profiling for all acute myeloid leukemia (AML) cases.
Mutations in IDH1 have been reported in 6% to 9% of AML cases, with a higher frequency among patients with normal karyotype AML (NK-AML;
8%–16%). IDH1 mutations were found to be associated with NPM1 mutations, wild-type CEBPA and the absence of FLT3 abnormalities. Clinically,
AML patients with IDH mutations tend to be older (median onset at about 67 years), have higher platelet counts, higher bone marrow blast and
peripheral blood blast counts, and have more profound neutropenia. Kindly correlate clinically.

PubMed References: 35197370, 33740099

NPM1 (p.Trp288CysfsTer12) - FRAMESHIFT-INS

Gene: NPM1 Exon: 11 Variant Allele Frequency: 18.04%

Nucleotide change: Protein change: p.Trp288CysfsTer12 Population MAF: NA (1000G);0(gnomAD);


chr5:g.171410540_171410543dup

cDNA change: c.860_863dup Variant Type: FRAMESHIFT-INS In-silico Predictions: NA(SIFT); NA(LRT);
NA(Polyphen2)

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 3 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

NPM1 (p.Trp288CysfsTer12) - FRAMESHIFT-INS

Transcript ID: ENST00000296930.10 Variant Allele Depth/Total depth: 1320/7316x Gene Function: Tumor Suppressor Gene

Gene Summary: NPM1 is a ubiquitously expressed nucleolar protein that shuttles between the nucleus and cytoplasm. It is implicated in
multiple functions, including ribosomal protein assembly and transport, control of centrosome duplication, and regulation of the tumor
suppressor ARF. NPM1 mutations that re-localize NPM1 from the nucleus into the cytoplasm are associated with development of acute myeloid
leukemia. This is a loss of function variant and is reported as pathogenic in Acute Myeloid Leukemia as per the ClinVar database (
RCV000015035.24)

The NPM1[c.860_863dup, (p.Trp288CysfsTer12)] detected in this subject is Type A variant.

Clinical and Therapeutic Relevance: Frameshift and nonsense mutations in the last exon of NPM1 result in an altered NPM1 C-terminus
and thereby cause aberrant translocation of the protein to the cytoplasm. These mutations predict a favorable outcome in de novo acute
myeloid leukemia (AML) with normal karyotype, but only if mutations in other proteins (e.g., FLT3, RUNX1, ASXL1, and TP53) are absent. In some
clinical studies for relapsed/refractory elderly AML patients treated with venetoclax in combination with a DNMTi (azacitidine or decitabine) or
low-dose cytarabine, mutant NPM1 was associated with a high response rate, durable remission, and prolonged overall survival. Dactinomycin
also demonstrated clinical activity in relapsed/refractory NPM1-mutated AML. Four out of the nine evaluable patients achieved CR/CRi. Co-
mutation with IDH1/2 might sensitize tumors to dactinomycin. Several clinical studies investigated the addition of tretinoin (all-trans retinoic
acid, ATRA) to chemotherapy for patients with NPM1 mutated AML, but there is no consensus yet as to whether this improves outcome. An AML
cell line with a NPM1 and DNMT3A double mutation was sensitive to daunorubicin, trametinib, binimetinib, selumetinib, and mirdametinib but
resistant to cytarabine.
NPM1 mutations are found in 30% of acute myeloid leukemia (AML) patients. The 4-bp insertion mutation c.863_864insTCTG, also called type A,
occurs in exon 12 and results in a frameshift at W288, leading to the generation of a new nuclear export signal (NES), causing impaired nuclear
localization. NPM1 mutations are heterozygous and the mutant protein acts in a dominant-negative manner, inactivating NPM1 wild-type
function. The Type A mutation is most common and found in 69-76% of the patients, followed by Type B (c.863_864insCATG) in 8-11%, and Type
D (c.863_864insCCTG) in 7-8% of the patients. NPM1 mutations co-occur in 41% of the patients with FLT3 internal tandem duplications (ITDs). In
a cohort of 300 cytogenetically normal AML patients, patients in the NPM1-mutated/FLT3 ITD–negative group had the highest remission rate
(86%), whereas the lowest response rate (63%) was achieved in the NPM1-mutated/FLT3 ITD–positive group (p<.001). In the same cohort, NPM1-
mutated/FLT3 ITD-negative patients had significantly better relapse-free survival (RFS, p<.001) than patients with NPM1 wild-type AML.
However, in combination with abnormal cytogenetics, NPM1 mutant patients have the same unfavorable prognosis as NPM1 wild-type patients,
indicating that the cytogenetic risk predominates the molecular risk. Kindly correlate clinically.

PubMed References: 35797463, 32609823, 31430225, 26471486, 24801015, 16051734

SRSF2 (p.Pro95His) - MISSENSE

Gene: SRSF2 Exon: 1 Variant Allele Frequency: 45.98%

Nucleotide change: chr17:g.76736877G>T Protein change: p.Pro95His Population MAF: NA


(1000G);0.011838(gnomAD);

cDNA change: c.284C>A Variant Type: MISSENSE In-silico Predictions: D(SIFT); D(LRT);
NA(Polyphen2)

Transcript ID: ENST00000359995.10 Variant Allele Depth/Total depth: 1486/3232x Gene Function: Oncogene

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 4 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

SRSF2 (p.Pro95His) - MISSENSE

Gene Summary: Serine/arginine-rich splicing factor 2 (SRSF2) is a gene that encodes a splicing factor protein. SRSF2 is a member of the
spliceosome and is involved in mRNA processing. Spliceosome mutations are observed in Myelodysplastic Syndrome (MDS), Chronic Lymphocytic
Leukemia (CLL), Acute Myeloid Leukemia (AML), and Chronic Myelomonocytic Leukemia (CMML), and some of these mutations are associated
with aberrant expression of genes involved in cancer pathogenesis.

Clinical and Therapeutic Relevance:


The most frequently mutated position of SRSF2 is P95 (87.9%; COSMIC). In a study on 193 MDS patients, SRSF2 mutations were associated with
less favorable overall survival and a higher likelihood of transformation from MDS to AML, which was also confirmed by other studies. A meta-
analysis study covering 1864 patients with de novo MDS, indicated an independent, adverse prognostic impact of SRSF2 mutations on overall
survival (OS) and AML transformation. In a study on 53 patients, SRSF2 mutations were more common in AML derived from MPNs and
constituted nearly 19% and were associated with poor overall survival in MPN patients under progression. SRSF2 encodes a member of the
serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. This mutation at or near the Pro95
(hotspot position in exon 1) causes abnormal RNA splicing and compromised hematopoiesis.
Although there is no drug response data for this specific mutation, AML cell lines with a similar SRSF2 mutation and defects in splicing showed
increased replication stress features, which can be targeted by the ATR inhibitor ceralasertib or the PARP inhibitor talazoparib. Kindly correlate
clinically.

PubMed References: 22389253, 22343920, 28953917, 22431577, 30373888, 26464169, 24389310, 23958953

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 5 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

DISCLAIMER
Decisions regarding treatment action plan should not be solely based on these test results. These findings are highly recommended to
be correlated with the patient’s clinical, pathological, radiological and family history for decisions on diagnosis, prognosis, or
therapeutics.
The therapy information provided in this report is based on FDA approved drugs data, NCCN guidelines, peer-reviewed published literature,
standard clinical databases, and strength of biomarker results. These therapies may or may not be suitable/beneficial to a particular
patient. This clinical report summarizes potentially effective medications, potentially ineffective medications, and medications that may
pose a higher risk of adverse reactions by mapping the patient’s genetic alterations to the biomedical reference information. The report
may also provide prognostic and diagnostic biomarkers detected or shown for the given disease context.
The clinical trials information provided in this report is compiled from https://www.clinicaltrials.gov as per currently available data,
however completeness of information provided herein cannot be guaranteed. This information should only be used as a guide and specific
eligibility criteria should be reviewed thoroughly for the concerned patient. MedGenome Labs does not guarantee or promise an enrolment
in any clinical trials.
The identification of a genomic biomarker does not necessarily imply pharmacological effectiveness or ineffectiveness. The medications
identified by the treating physician may or may not be suitable for use on a particular patient. Thus, the clinical report does not guarantee
that any particular agent will be effective in the treatment of any particular condition. Also, the absence of a treatment option does not
determine the effectiveness or predict an ineffective or safety-relevant effect of a medication selected by the treating physician.
The classification and clinically relevant information for the reported variants is based on peer-reviewed publications, public clinical
databases, medical guidelines (WHO, NCCN, ASCO, AMP) or other publicly available information and it has been ensured that the
information provided is up to date at the time of report generated, however continuous updates may happen in public domains. Also, the
classification of variants can change based on the updated literature evidence. Re-analysis of the results can be requested at additional cost.
The scope of this assay limits to the detection of gene fusions in RNA transcripts.
There is a possibility of false positives in this assay, and hence confirmation with orthogonal method is needed.
This test has been validated at MedGenome Labs, and the fusions detected at ≥10 spanning reads are only reported.
Possibility of false negative below the limit of detection of this assay cannot be ruled out.
The classification of variants of unknown significance can change over time. Please contact MedGenome later for any change
A false negative result for any variant below the LOD, i.e., 5% for SNVs and Small INDELs, cannot be ruled out.
Non-coding RNA fusions are not reported.
The scope of this assay includes testing for fusions in diagnostic and relapse samples while fusions in patients under remission or MRD
cannot be efficiently detected by this assay, which needs to be checked at >5000x depth.

TEST DESCRIPTION
The whole genome sequencing of different subtypes of leukemia revealed new recurrent genetic and chromosomal abnormalities that could add
value to the existing prognostic scoring index in different subtypes of leukemia. Several studies have been reported wherein clinical outcome was
measured to correlate the significance of the mutational findings from whole genome sequencing. The scope of this Comprehensive Myeloid and
Lymphoid Panel by NGS (SNVs, InDels, CNVs & Fusions) testing includes a panel of genes, wherein prognostic significance of these genes and their
mutations has been well studied and documented in medical literature. The panel is designed on targeted sequencing of multiple genes for the
coding regions through NGS.

TEST METHODOLOGY
Sample type: Peripheral blood or bone marrow in EDTA tube
Extraction and Library Preparation: Nucleic acid extracted from blood or bone marrow was used to perform targeted gene capture by custom
capture kit.

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 6 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Sequencing :The QC passed libraries were sequenced on a validated Illumina sequencing platform.
Data Analysis: The sequences obtained were aligned to human reference genome (GRCh38.p13/) using BWA/STAR program [PMID: 20080505,
23155063,23104886] The in-house validated pipeline was designed to accurately detect all classes of genomic alterations (SNVs, INDELs, CNVs and
Fusions). Only non-synonymous and splice site variants found in the coding regions were used for clinical interpretation.
Limit of Detection (LOD): The LOD for SNVs and INDELs is 5% Variant allele Frequency (VAF) and for Fusions is >10 total read support.
Variant Annotation:The mutations were annotated using our in-house annotation pipeline (VariMAT). Gene annotation of the variants was
performed using VeP program [PMID: 27268795] against the Ensembl release 99 human gene Model Clinically relevant mutations were annotated
using peer-reviewed publications, public clinical databases (ClinVar, HGMD, CiViC, OncoKb), medical guidelines (NCCN, ASCO, AMP). The common
variants are filtered out based on the minor allele frequency (MAF) in various population databases (1000G, ExAC, gnomAD, GAsP, dbSNP,
OncoCrDb (in-house curated database)) and only variants with MAF <0.01% are considered for reporting [PMID: 29155950,27535533,27535533,
26292667,27535533,31526404]
Reporting : Clinically relevant mutations were prioritized, and reports were prepared based on AMP-ASCO-CAP, WHO, ASH guidelines [PMID:
27993330,WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues; Revised 4th Edition, Volume 2] and also based on annotation
metrics from OncoMD [PMID: 26928227],MedGenome’s curated somatic database which includes somatic mutations from TCGA.
# The transcript used for clinical reporting generally represents the canonical transcript (according to Ensembl release 99 human gene model),
which is usually the longest coding transcript with strong/multiple supporting evidence. However, clinically relevant variants annotated in alternate
complete coding transcripts could also be reported. Variants annotated on in-complete and nonsense mediated decay transcripts will not be
reported.

CLINICAL TRIALS

The following trials are potentially best suited for your patient's indication, considering all reported treatment recommendations. See
https://clinicaltrials.gov (clinical trials from NCT) or https://trialsearch.who.int (clinical trials from other registries) for more
information.

Clinical trials in total : 0 Trial countries : IN-India, US-United States

S.No Title Phase and ID Intervention Disease Age & Sex

No Clinical Trials.

COVERAGE OF ANALYZED GENES

Gene Coverage (%) Gene Coverage (%) Gene Coverage (%)


ABL1 100 ARAF 100 ARID1A 100
ASXL1 100 ASXL2 100 ATM 100
ATRX 100 B2M 100 BCL2 100
BCL6 100 BCOR 100 BCORL1 100
BIRC3 100 BRAF 100 CALR 100
CARD11 100 CBL 100 CBLB 100
CBLC 100 CCND1 100 CCND3 100
CCR4 100 CCR7 100 CD28 100
CD58 100 CD79B 100 CDKN1A 100
CDKN2A 100 CDKN2B 100 CDKN2C 100
CEBPA 100 CREBBP 100 CSF3R 100
CTNNA1 100 CUX1 100 CXCR4 100

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 7 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Gene Coverage (%) Gene Coverage (%) Gene Coverage (%)


CYLD 100 DIS3 100 DNMT3A 100
EP300 100 EPHA7 100 ETNK1 100
ETV6 100 EZH2 100 FAS 100
FBXW7 100 FGFR3 100 FLT3 100
FYN 100 GATA1 100 GATA2 100
GATA3 100 GNA13 100 GNAS 100
HNRNPA2B1 100 HRAS 100 ID3 100
IDH1 100 IDH2 100 IKZF1 100
INPP5D 100 IRF4 100 ITPKB 100
JAK1 100 JAK2 100 JAK3 100
KDM6A 100 KIT 100 KLF2 100
KLHL14 100 KMT2A 100 KMT2D 100
KRAS 100 MAP2K1 100 MEF2B 100
MFHAS1 100 MPL 100 MYBBP1A 100
MYD88 100 NF1 100 NFE2 100
NOTCH1 100 NOTCH2 100 NPM1 100
NRAS 100 OSBPL10 100 PAX5 100
PDCD1LG2 100 PDGFRA 100 PDGFRB 100
PHF6 100 PIK3CA 100 PLCG1 100
POT1 100 PRDM1 100 PRKCB 100
PRPF8 100 PTEN 100 PTPN1 100
PTPN11 100 RAD21 100 RB1 100
REL 100 RHOA 100 RUNX1 100
SETBP1 100 SETD2 100 SF3B1 100
SGK1 100 SMARCA4 100 SMC1A 100
SMC2 100 SMC3 100 SOCS1 100
SRSF2 100 STAG2 100 STAT3 100
STAT5B 100 STAT6 100 SUSD2 100
TCF3 100 TENT5C 100 TET1 100
TET2 100 TNFAIP3 100 TNFRSF14 100
TP53 100 TRAF3 100 U2AF1 100
VAV1 100 WT1 100 XPO1 100
ZRSR2 100

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 8 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

CLINICALLY RELEVANT FUSIONS ANALYSED

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
ABL1 **BCR-ABL1 BCR ABL1 t(9;22)(q34.12;q11.23) MPD, AML, ALL
ABL1 CENPC-ABL1 CENPC ABL1 t(4;9)(q13.2;q34.12) ALL
ABL1 EML1-ABL1 EML1 ABL1 t(9;14)(q34.12;q32.2) ALL
ABL1 ETV6-ABL1 ETV6 ABL1 t(9;12)(q34.12;p13.2) ALL, AML, MDS, MPD
ABL1 FOXP1-ABL1 FOXP1 ABL1 t(3;9)(p13;q34.12) ALL, NHL
ABL1 LSM14A-ABL1 LSM14A ABL1 t(9;19)(q34.12;q13.11) ALL
ABL1 NUP153-ABL1 NUP153 ABL1 t(6;9)(p22.3;q34.12) ALL
ABL1 NUP214-ABL1 NUP214 ABL1 t(9;9)(q34.13;q34.12) ALL
ABL1 RANBP2-ABL1 RANBP2 ABL1 t(2;9)(q12.3;q34.12) ALL
ABL1 RCSD1-ABL1 RCSD1 ABL1 t(1;9)(q24.2;q34.12) ALL
ABL1 SFPQ-ABL1 SFPQ ABL1 t(1;9)(p34.3;q34.12) ALL
ABL1 SNX1-ABL1 SNX1 ABL1 SNX1/ABL1 ALL
ABL1 SNX2-ABL1 SNX2 ABL1 t(5;9)(q23.2;q34.12) ALL
ABL1 SPTNA1-ABL1 SPTNA1 ABL1 SPTNA1/ABL1 ALL
ABL1 ZMIZ1-ABL1 ZMIZ1 ABL1 t(9;10)(q34.12;q22.3) ALL, AML
ABL2 ETV6-ABL2 ETV6 ABL2 t(1;12)(q25.2;p13.2) AML
ABL2 PAG1-ABL2 PAG1 ABL2 PAG1-ABL2 ALL
ABL2 RCSD1-ABL2 RCSD1 ABL2 t(1;1)(q24.2;q25.2) ALL
ABL2 ZC3HAV1-ABL2 ZC3HAV1 ABL2 t(1;7)(q25;q34) ALL
ALK ALK-CTLC ALK CTLC t(2;17)(p23;q23) NHL
ALK ATIC-ALK ATIC ALK inv(2)(p23q35) NHL
ALK CLTC-ALK CLTC ALK t(2;17)(p23;q23) NHL
ALK DUSP22-FRA7H DUSP22 FRA7H t(6;7)(p25.3;q32.3) NHL
ALK MYH9-ALK MYH9 ALK t(2;22)(p23;q11) NHL
ALK NPM1-ALK NPM1 ALK t(2;5)(p23;q35) NHL
ALK RANBP2-ALK RANBP2 ALK NA MDS/MPN,JMML,CMML, AML
ALK RNF213-ALK RNF213 ALK t(2;17)(p23;q25) NHL
ALK SEC31A-ALK SEC31A ALK t(4;2)(q21.22;p23.2) NHL
ALK SQSTM1-ALK SQSTM1 ALK t(5;2)(q35.3;p23.2) NHL
ALK TBL1XR1-TP63 TBL1XR1 TP63 inv(3)(q26q28) NHL
ALK TFG-ALK TFG ALK t(2,3)(p23;q12.2) NHL
ALK TPM3-ALK TPM3 ALK t(1;2)(q25;p23) NHL
ALK TPM4-ALK TPM4 ALK t(2;19)(p23;p13) NHL
BCL11B BCL11B-TLX3 BCL11B TLX3 t(5;14)(q35;q32) ALL
BCL11B IKZF2-BCL11B IKZF2 BCL11B t(2;14)(q34;q32) NHL
BCL2 IGH-BCL2 IGH BCL2 t(14;18)(q32.33;18q21.33) ALL, NHL
BCL3 IGK-BCL3 IGK BCL3 t(2;19)(p12;q13.3) CLL
BCL3 IGL-BCL3 IGL BCL3 t(19;22)(q13.32;q11.22) NHL
BCL6 BCL6-MYBL1 BCL6 MYBL1 t(3;8)(q27;q13) NHL

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 9 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
BCL6 IGH-BCL6 IGH BCL6 NHL
BIRC3 BIRC3-MALT1 BIRC3 MALT1 t(11;18)(q21;q21) NHL, CLL
CBL KANK1-CBL KANK1 CBL t(9;11)(p24.3;q23.3) ALL
CCND1 IGH-CCND1 IGH CCND1 t(11;14)(q13;q32) NHL, CLL, MM
CCND3 IGH-CCND3 IGH CCND3 t(6;14)(p21;q32) MM, NHL
CDK6 CDK6-KMT2A CDK6 KMT2A t(7;11)(q21.2;q23.3) ALL
CHIC2 CHIC2-ETV6 CHIC2 ETV6 t(4;12)(q12;p13.2) AML, ALL
CIITA CIITA-CD274 CIITA CD274 t(9;16)(p24;p13) NHL
CIITA CIITA-PDCD1LG2 CIITA PDCD1LG2 t(9;16)(p24;p13) NHL
CIITA CIITA-RALGDS CIITA RALGDS t(9;16)(q34;p13) NHL
CIITA CIITA-RMI2 CIITA RMI2 (16p13) NHL
CRLF2 IGH-CRLF2 IGH CRLF2 t(X;14)(p22;q32), t(Y;14)(p11;q32) ALL
CRLF2 P2RY8-CRLF2 P2RY8 CRLF2 del(X)(p22p22), del(Y)(p11p11) ALL
CSF1R MEF2D-CSF1R MEF2D CSF1R t(1;5)(q22;q33) AML
CSF1R SSBP2-CSF1R SSBP2 CSF1R t(5;5)(q14.1;q32) ALL
CSF1R TBL1XR1-CSF1R TBL1XR1 CSF1R t(3;5)(q26.32;q32) ALL, NHL
CSF2RA CSF2RA-CRLF2 CSF2RA CRLF2 del(X)(p22.33p22.33) ALL
DEK DEK-NUP214 DEK NUP214 t(6;9)(p22;q34) AML, MDS
DEK NUP214-DEK NUP214 DEK t(6;9)(p22;q34) AML, MDS
DNTT DNTT-BLNK DNTT BLNK t(10;10)(q24;q24) ALL
DUSP22 DUSP22-IRF4 DUSP22 IRF4 not specified
EBF1 HMGA2-EBF1 HMGA2 EBF1 t(5;12)(q33.3;q14.3)
EBF1 IGH-EBF1 IGH EBF1 t(14;5)(q32.33;q33.3) NHL
EGFR IGH-EGFR IGH EGFR t(7;14)(p11;q32) MM
EPOR EPOR-CRLF2 EPOR CRLF2 EPOR / CRLF2 ALL
EPOR IGH-EPOR IGH EPOR t(14;19)(q32.33;p13.2) ALL
EPOR IGK-EPOR IGK EPOR t(14;19)(q32;p13) ALL
EPOR LAIR1-EPOR LAIR1 EPOR t(14;19)(q32;p13) ALL
EPOR THADA-EPOR THADA EPOR THADA-EPOR ALL
ERG FUS-ERG FUS ERG t(16;21)(p11;q22) AML, MDS
ETV6 ETV6-IGH ETV6 IGH t(12;14)(p13.2;q32.33) NHL, ALL
ETV6 MNX1-ETV6 MNX1 ETV6 t(7;12)(q36;p13) AML, ALL
ETV6 PAX5-ETV6 PAX5 ETV6 dic(9;12)(p13;p13) ALL, NHL, CLL, MPD
FGFR1 BCR-FGFR1 BCR FGFR1 t(22;8)(q11.23;p11.23) MPD
FGFR1 CNTRL-FGFR1 CNTRL FGFR1 t(8;9)(p12;q33) MPD, NHL
FGFR1 CPSF6-FGFR1 CPSF6 FGFR1 t(12;8)(q15;p11.23) MDS/MPN,JMML,CMML
FGFR1 CUX1-FGFR1 CUX1 FGFR1 t(7;8)(q22.1;p11.23) ALL
FGFR1 FGFR1OP-FGFR1 FGFR1OP FGFR1 t(6;8)(q27;p11.23) MDS/MPN, JMML, CMML, MPD, ALL
FGFR1 FGFR1OP2- FGFR1OP2 FGFR1 t(12;8)(p11.23;p11.23) MPD, NHL
FGFR1
FGFR1 HERVK-FGFR1 HERVK FGFR1 t(8;19)(p11.2;p13.3) AML
FGFR1 LRRF1P1-FGFR1 LRRF1P1 FGFR1 t(2;8)(q37.3;p11.23) MDS

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 10 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
FGFR1 LRRFIP1-FGFR1 LRRFIP1 FGFR1 t(2;8)(q37.3;p11.23) MDS
FGFR1 MYO18A-FGFR1 MYO18A FGFR1 t(17;8)(q11.2;p11.23) MPD
FGFR1 RANBP2-FGFR1 RANBP2 FGFR1 t(2;8)(q12.3;p11.23); t(2;8)(q13;p11 .2) MDS/MPN, JMML, CMML
FGFR1 TPR-FGFR1 TPR FGFR1 t(1;8)(q31.1;p11.23) MPD
FGFR1 TRIM24-FGFR1 TRIM24 FGFR1 t(7;8)(q33;p11.23) AML
FGFR1 ZNF198-FGFR1 ZNF198 FGFR1 t(8;13)(p11;q12) MPD
FGFR1 ZMYM2-FGFR1 ZMYM2 FGFR1 t(8;13)(p11.23;q12.11) MPD
FGFR3 ETV6-FGFR3 ETV6 FGFR3 t(4;12)(p16.3;p13.2) ALL
FGFR3 IGH-FGFR3 IGH FGFR3 t(4;14)(p16;q32) MM
FLT3 ZMYM2-FLT3 ZMYM2 FLT3 t(13;13)(q12;q12) ALL
GLIS2 CBFA2T3-GLIS2 CBFA2T3 GLIS2 inv(16)(p13q24) AML
GLIS2 GLIS2-CBFA2T3 GLIS2 CBFA2T3 inv(16)(p13.3q24.3) AML
HOXA11 DPY19L1- DPY19L1 HOXA11 t(7;7)(p14.2;p15.2) ALL
HOXA11
HOXA11 HOXA11-BZW2 HOXA11 BZW2 t(7;7)(p15.2;p21.1) AML
HOXA11 NUP98-HOXA11 NUP98 HOXA11 t(7;11)(p15.2;p15.4) MDS/MPN, JMML, CMML
HOXA11 PUM1-HOXA11 PUM1 HOXA11 t(1;7)(p35.2;p15.2) ALL
HOXA11 TRB-HOXA11 TRB HOXA11 inv(7)(p15.2q34), t(7;7)(p15.2;q34) AML, ALL
HOXA13 NUP98-HOXA13 NUP98 HOXA13 t(7;11)(p15.2;p15.4) AML, MPD
HOXA1O TRB-HOXA10 TRB HOXA10 t(7;7)(p15.2;q34); inv(7)(p15.2q34) ALL, NHL
HOXA9 GATA2-HOXA9 GATA2 HOXA9 t(3;7)(q21.3;p15.2) AML
HOXA9 HOXA9-ANGPT1 HOXA9 ANGPT1 t(7;8)(p15.2;q23.1) AML
HOXA9 MED12-HOXA9 MED12 HOXA9 t(X;7)(q13.1;p15.2) ALL
HOXA9 MSI2-HOXA9 MSI2 HOXA9 t(7;17)(p15.2;q23) CML
HOXA9 NIPBL-HOXA9 NIPBL HOXA9 t(5;7)(p13.2;p15.2) AML
HOXA9 NUP98-HOXA9 NUP98 HOXA9 t(7;11)(p15.2;p15.4) AML, MPD
HOXA9 TRB-HOXA9 TRB HOXA9 t(7;7)(p15.2;q34) ALL
HOXC11 NUP98-HOXC11 NUP98 HOXC11 t(11;12)(p15.4;q13.13) AML
HOXC13 NUP98-HOXC13 NUP98 HOXC13 t(11;12)(p15.4;q13.13) AML
IKZF1 IKZF1-BCL6 IKZF1 BCL6 t(3;7)(q27;p12) NHL
IL3 IGH-IL3 IGH IL3 t(5;14)(q31;q32) ALL
IQGAP2 IQGAP2-TSLP IQGAP2 TSLP IQGAP2/TSLP ALL
JAK2 ATF7IP-JAK2 ATF7IP JAK2 t(9;12)(p24.1;p13.1) ALL
JAK2 BCR-JAK2 BCR JAK2 t(9;22)(p24;q11.23) MPD, MDS/MPN, JMML, CMML, AML,
ALL, CLL
JAK2 EBF1-JAK2 EBF1 JAK2 t(5;9)(q33.3;p24.1) ALL
JAK2 ETV6-JAK2 ETV6 JAK2 t(9;12)(p24.1;p13.2) MPD, MDS, ALL
JAK2 GOLGA5-JAK2 GOLGA5 JAK2 GOLGA5-JAK2 ALL
JAK2 HMBOX1-JAK2 HMBOX1 JAK2 t(8;9)(p21.1;p24.1) ALL
JAK2 JAK2-ETV6 JAK2 ETV6 t(9;12)(p24.1;p13.2) ALL, MPD, MDS
JAK2 OFD1-JAK2 OFD1 JAK2 t(X;9)(p22.2;p24.1) ALL

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 11 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
JAK2 PAX5-JAK2 PAX5 JAK2 t(9;9)(p13.2;p24.1), del(9)(p13.2;p24.1), ALL
inv(9)(p13.2;24.1)
JAK2 PCM1-JAK2 PCM1 JAK2 t(8;9)(p22;p24.1) MPD, AML, ALL, NHL
JAK2 PPFIBP1-JAK2 PPFIBP1 JAK2 PPFIBP1-JAK2 ALL
JAK2 RFX3-JAK2 RFX3 JAK2 t(9;9)(p24.2;p24.1) ALL
JAK2 SEC31A-JAK2 SEC31A JAK2 t(4;9)(q21.22;p24.1) HL
JAK2 SMU1-JAK2 SMU1 JAK2 t(9;9)(p21.1;p24.1) ALL
JAK2 SNX29-JAK2 SNX29 JAK2 t(9;16)(p24.1;p13.13) ALL
JAK2 SSBP2-JAK2 SSBP2 JAK2 t(5;9)(q14.1;p24.1) ALL
JAK2 STRN3-JAK2 STRN3 JAK2 t(9;14)(p24.1;q12) ALL
JAK2 TERF2-JAK2 TERF2 JAK2 TERF2-JAK2 ALL
JAK2 TPM3-JAK2 TPM3 JAK2 t(1;9)(q21.3;p24.1) ALL
JAK2 TPR-JAK2 TPR JAK2 TPR-JAK2 ALL
JAK2 USP25-JAK2 USP25 JAK2 t(9;21)(p24.1;q21.1) ALL
JAK2 ZBTB46-JAK2 ZBTB46 JAK2 NA
JAK2 ZNF274-JAK2 ZNF274 JAK2 t(9;19)(p24.1;q13.43) ALL
JAK2 ZNF340-JAK2 ZNF340 JAK2 ZNF340-JAK2 ALL
KAT6A CREBBP-KAT6A CREBBP KAT6A t(16;8)(p13.3;p11.21) AML
KAT6A KAT6A-CREBBP KAT6A CREBBP t(8;16)(p11;p13) AML
KAT6A KAT6A-EP300 KAT6A EP300 t(8;22)(p11;q13) AML
KDM5A NUP98-KDM5A NUP98 KDM5A t(11;12)(p15.4;p13.33), AML
t(11;12)(p15.5;p13.5)
KLF2 TPM4-KLF2 TPM4 KLF2 TPM4-KLF2 AML
KMT2A KMT2A-AFF1 KMT2A AFF1 t(4;11)(q21.3;q23.3) ALL
KMT2A KMT2A-CREBBP KMT2A CREBBP t(11;16)(q23.3;p13.3) MDS/MPN,JMML,CMML
KMT2A KMT2A-ELL KMT2A ELL t(11;19)(q23;p13.1) AML
KMT2A KMT2A-EP300 KMT2A EP300 t(11;22)(q23.3;q13.2) AML
KMT2A KMT2A-EPS15 KMT2A EPS15 t(1;11)(p32;q23) ALL, AML, MDS
KMT2A KMT2A-FOXO3 KMT2A FOXO3 t(11;6)(q23.3;q21) AML
KMT2A KMT2A-FOXO4 KMT2A FOXO4 t(X;11)(q13;q23) AML, ALL
KMT2A KMT2A-MLLT1 KMT2A MLLT1 t(11;19)(q23;p13.3) ALL, AML
KMT2A KMT2A-MLLT10 KMT2A MLLT10 t(10;11)(p12;q23) AML
KMT2A KMT2A-MLLT11 KMT2A MLLT11 t(1;11)(q21;q23) AML, ALL
KMT2A **KMT2A- KMT2A MLLT3 t(9;11)(p21;q23) AML
MLLT3
KMT2A **KMT2A- KMT2A MLLT4 t(6;11)(q27;q23) ALL
MLLT4
KMT2A KMT2A-MLLT6 KMT2A MLLT6 t(11;17)(q23.3;q12) AML
KMT2A KMT2A-PICALM KMT2A PICALM t(11;11)(q14;q23), inv(11)(q14q23) AML, ALL
KMT2A KMT2A-SEPT6 KMT2A SEPT6 t(X;11)(q24;q23.3) AML
KMT2A KMT2A-SEPT9 KMT2A SEPT9 t(11;17)(q23.3;q25.2) MDS, AML, ALL
KMT2A KMT2A-TET1 KMT2A TET1 t(10;11)(q22;q23) ALL

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 12 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
KMT2A NUP98-KMT2A NUP98 KMT2A t(11;11)(inv)(p15.4;q23.3) AML, ALL, MM, MDS, HCL
LYN GATAD2A-LYN GATAD2A LYN t(8;19)(q12.1;p13.11) ALL
LYN NCOR1-LYN NCOR1 LYN t(8;17)(q12.1;p11) ALL
MALT1 IGH-MALT1 IGH MALT1 t(14;18)(q32.33;q21.32) NHL
MECOM ETV6-MECOM ETV6 MECOM t(12;3)(p13.2;q26.2) AML, MDS, MPD
MECOM GATA2-MECOM GATA2 MECOM inv(3)(q21.3q26.2) , t(3;3)(q21.3;q26.2) AML
MECOM MECOM-CDK6 MECOM CDK6 t(3;7)(q26.2;q21.2) AML,MPD
MKL1 RBM15-MKL1 RBM15 MKL1 t(1;22)(p13.3;q13.1) AML
MLF1 NPM1-MLF1 NPM1 MLF1 t(3;5)(q25;q34) MPD
MLLT10 PICALM-MLLT10 PICALM MLLT10 t(10;11)(p12;q21) AML, ALL
MYB MYB-GATA1 MYB GATA1 t(X;6)(p11;q23) AML
MYC BCL11A-MYC BCL11A MYC t(2;8)(p15;q24.21) NHL
MYC BCL3-MYC BCL3 MYC t(8;19)(q24.21;q13.32) CLL
MYC BCL6-MYC BCL6 MYC t(3;8)(q27;q24) NHL
MYC BTG1-MYC BTG1 MYC t(8;12)(q24.21;q22) ALL
MYC IGH-MYC IGH MYC t(8;14)(q24.21;q32.33) ALL, NHL
MYC IGK-MYC IGK MYC t(2;8)(p12;q24.21) ALL, NHL
MYC IGL-MYC IGL MYC t(8;22)(q24.21;q11.12) ALL, NHL
MYC LRMP-MYC LRMP MYC t(8;12)(q24.21;p12.1) CLL
MYC MYC-SUPT3H MYC SUPT3H t(6;8)(p21.1;q24.2) MPD
MYC MYC-ZBTB5 MYC ZBTB5 t(8;9)(q24.21;p13.2) NHL
MYC MYC-ZCCHC7 MYC ZCCHC7 t(8;9)(q24;p13) NHL
MYC RNF213-MYC RNF213 MYC t(8;17)(q24.21;q25.3) NHL
MYC TRA-MYC TRA MYC t(8;14)(q24.21;q11.2) ALL
MYH11 **CBFB-MYH11 CBFB MYH11 inv(16)(p13q22), t(16;16)(p13;q22), AML, MDS
del(16)(q22)
MYH9 MYH9-IL2RB MYH9 IL2RB NA ALL
NF1 NF1-LRRC37B NF1 LRRC37B (17q11) AML
NFKB2 IGH-NFKB2 IGH NFKB2 t(14;10)(q32.33;q24.32) MM, CLL
NOTCH1 NOTCH1- NOTCH1 NUP214 t(9;9)(q34.3;q34.13)
NUP214
NSD1 NUP98-NSD1 NUP98 NSD1 t(5;11)(q35;p15.5) AML
NTRK3 ETV6-NTRK3 ETV6 NTRK3 t(12;15)(p13.2;q25.3) AML, MPD, ALL
NUP214 SQSTM1- SQSTM1 NUP214 t(5;9)(q35.3;q34.13) ALL, AML
NUP214
PAX5 PAX5-IGH PAX5 IGH t(9;14)(p13.2;q32.33) CLL
PAX5 PAX5-PML PAX5 PML t(9;15)(p13.2;q24.1) ALL
PBX1 AFF1-PBX1 AFF1 PBX1 t(1;4)(q23.3;21.3) ALL
PBX1 **TCF3-PBX1 TCF3 PBX1 t(1;19)(q23;p13.3) ALL, NHL
PDGFRA BCR-PDGFRA BCR PDGFRA t(4;22)(q12;q11) MPD
PDGFRA CDK5RAP2- CDK5RAP2 PDGFRA t(9;4)(q33.2;q12) MPD
PDGFRA

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 13 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
PDGFRA ETV6-PDGFRA ETV6 PDGFRA t(4;12)(q12;p13.2) MPD
PDGFRA FIP1L1-PDGFRA FIP1L1 PDGFRA del(4)(q12q12) MPD
PDGFRA KIF5B-PDGFRA KIF5B PDGFRA t(10;4)(p11.22;q12) MPD
PDGFRA STRN-PDGFRA STRN PDGFRA t(2;4)(p22.2;q12) MPD
PDGFRA TNKS2-PDGFRA TNKS2 PDGFRA TNKS2 / PDGFRA MPD
PDGFRB ATF7IP-PDGFRB ATF7IP PDGFRB t(5;12)(q32;p13.1) ALL
PDGFRB BIN2-PDGFRB BIN2 PDGFRB t(5;12)(q32;q13.13) MPD
PDGFRB CAPRIN1- CAPRIN1 PDGFRB t(5;11)(q32;p13) MPD
PDGFRB
PDGFRB CCDC6-PDGFRB CCDC6 PDGFRB t(5;10)(q32;q21.2) MPD
PDGFRB CCDC88C- CCDC88C PDGFRB t(5;14)(q32;q32.11) MPD
PDGFRB
PDGFRB COL1A1- COL1A1 PDGFRB t(5;17)(q32;q21.3) MDS/MPN, JMML, CMML
PDGFRB
PDGFRB DTD1-PDGFRB DTD1 PDGFRB t(5;20)(q32;p11.23) MPD
PDGFRB EBF1-PDGFRB EBF1 PDGFRB t(5;5)(q32;q33.3); del(5)(q32q33.3) ALL
PDGFRB ERC1-PDGFRB ERC1 PDGFRB t(5;12)(q32;p13.33) AML
PDGFRB ETV6-PDGFRB ETV6 PDGFRB t(5;12)(q32;p13.2) MDS/MPN, JMML, CMML
PDGFRB GIT2-PDGFRB GIT2 PDGFRB t(5;12)(q32;q24.11) MPD
PDGFRB GOLGA4- GOLGA4 PDGFRB t(3;5)(p22.2;q32) MPD
PDGFRB
PDGFRB HECW1-PDGFRB HECW1 PDGFRB t(5;7)(q32;p14.1) MDS/MPN, JMML, CMML
PDGFRB HIP1-PDGFRB HIP1 PDGFRB t(5;7)(q32;q11.23) MDS/MPN, JMML, CMML
PDGFRB KANK1-PDGFRB KANK1 PDGFRB t(5;9)(q32;p24.3) MDS/MPN, JMML, CMML
PDGFRB MYO18A- MYO18A PDGFRB t(5;17)(q32;q11.2) MPD
PDGFRB
PDGFRB NDE1-PDGFRB NDE1 PDGFRB t(5;16)(q32;p13.11) MDS
PDGFRB NIN-PDGFRB NIN PDGFRB t(5;14)(q32;q22.1) MPD
PDGFRB PDE4DIP- PDE4DIP PDGFRB t(1;5)(q21;q32) MDS/MPN, JMML, CMML, MPD, ALL
PDGFRB
PDGFRB PRKG2-PDGFRB PRKG2 PDGFRB t(4;5)(q21;q33) MPD
PDGFRB RABEP1- RABEP1 PDGFRB t(5;17)(q32;p13.2) MDS/MPN, JMML, CMML, MPD
PDGFRB
PDGFRB SART3-PDGFRB SART3 PDGFRB t(5;12)(q32;q23.3) MDS/MPN, JMML, CMML
PDGFRB SNX29-PDGFRB SNX29 PDGFRB SNX29/PDGFRB ALL
PDGFRB SPECC1-PDGFRB SPECC1 PDGFRB t(5;17)(q32;p11.2) MDS/MPN, JMML, CMML
PDGFRB SPTBN1- SPTBN1 PDGFRB t(2;5)(p16.2;q32) MPD
PDGFRB
PDGFRB SSBP2-PDGFRB SSBP2 PDGFRB SSBP2-PDGFRB ALL
PDGFRB TNIP1-PDGFRB TNIP1 PDGFRB t(5;5)(q32;q33.1) ALL
PDGFRB TP53BP1- TP53BP1 PDGFRB t(5;15)(q32;q15.3) MPD
PDGFRB

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 14 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Oncogenic
Fusion 5'Gene 3'Gene Chromosomal Aberration Major Disease type
partner
PDGFRB TPM3-PDGFRB TPM3 PDGFRB t(1;5)(q21.3;q32) MPD
PDGFRB TRIP11-PDGFRB TRIP11 PDGFRB t(5;14)(q32;q32.12) AML
PDGFRB WDR48-PDGFRB WDR48 PDGFRB t(3;5)(p22.2;q32) MPD
PDGFRB ZEB2-PDGFRB ZEB2 PDGFRB ZEB2/PDGFRB ALL
PDGFRB ZMYND8- ZMYND8 PDGFRB t(5;20)(q32.13;q13) ALL
PDGFRB
PRDM16 ETV6-PRDM16 ETV6 PRDM16 t(1;12)(p36.32;p13.2) AML
PTK2B KDM6A-PTK2B KDM6A PTK2B KDM6A-PTK2B ALL
RARA ETV6-RARA ETV6 RARA t(12;17)(p13.2;q21.2) AML
RARA FIP1L1-RARA FIP1L1 RARA t(4;17)(q12;q21.2) MDS/MPN, JMML, CMML, AML
RARA GTF2I-RARA GTF2I RARA t(7;17)(q11.23;q21.2) AML
RARA NPM1-RARA NPM1 RARA t(5;17)(q35.1;q21.2) AML
RARA NUMA1-RARA NUMA1 RARA t(11;17)(q13.4;q21.2) AML
RARA **PML-RARA PML RARA t(15;17)(q24;q21) AML
RARA STAT5B-RARA STAT5B RARA t(17;17)(q21;q21), dup(17)(q12q21) AML
RARA ZBTB16-RARA ZBTB16 RARA t(11;17)(q23;q21) AML
RUNX1 (AML1) **ETV6-RUNX1 ETV6 RUNX1 t(12;21)(p13;q22) ALL
RUNX1 (AML1) MECOM-RUNX1 MECOM RUNX1 t(3;21)(q26.2;q22.1) CML,MDS,AML
RUNX1 (AML1) RUNX1- RUNX1 CBFA2T3 t(21;16)(q22.12;q24.3) MDS,AML
CBFA2T3
RUNX1 (AML1) RUNX1-FGA7 RUNX1 FGA7 t(4;21)(q28;q22) ALL
RUNX1 (AML1) RUNX1-PRDM16 RUNX1 PRDM16 t(21;1)(q22.12;p36.32) AML,MDS
RUNX1 (AML1) **RUNX1- RUNX1 RUNX1T1 t(8;21)(q22;q22.1) AML
RUNX1T1
SET FUS-SET FUS SET t(9;16)(q34.11;p11.2) ALL
SET SET-NUP214 SET NUP214 t(9;9)(q34.11;q34.13) ALL
SETD2 SETD2-CCDC12 SETD2 CCDC12 3p21 ALL
STIL **TAL1-STIL TAL1 STIL TAL1-STIL ALL
TCF3 TCF3-HLF TCF3 HLF t(17;19)(q22;p13) ALL
TCF3 TCF3-ZNF384 TCF3 ZNF384 t(12;19)(p13;p13) ALL
TFE3 NONO-TFE3 NONO TFE3 t(X;X)(p11;q13) ALL
TFE3 TFE3-NONO TFE3 NONO t(X;X)(p11;q13) ALL
TOP1 NUP98-TOP1 NUP98 TOP1 t(11;20)(p15.4;q12), t(11;20)(p15.4;q11) AML
TYK2 MYB-TYK2 MYB TYK2 MYB-TYK2 ALL
TYK2 NPM1-TYK2 NPM1 TYK2 t(5;19)(q35.1;p13.2) NHL
TYK2 SMARCA4-TYK2 SMARCA4 TYK2 t(19;19)(p13.2;p13.2) ALL
TYK2 ZNF340-TYK2 ZNF340 TYK2 ZNF340-TYK2 ALL

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 15 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

ABBREVIATIONS

aCML Atypical Chronic Myeloid Leukemia


AL Acute Leukemia
ALCL Anaplastic Large Cell Lymphoma
ALL Acute Lymphoblastic Leukemia
AML Acute Myeloid Leukemia
AMKL/AM Acute Megakaryoblastic Leukemia
APML/AML Acute Promyelocytic Leukemia
B-ALL B-Cell Acute Lymphoblastic Leukemia
B-CLL B-Cell Chronic Lymphoblastic Leukemia
BL Burkitt Lymphoma
BLL B Cell Lymphoblastic Leukemia
CBL Chronic Basophilic Leukemia
CEL Chronic Eosinophilic Leukemia
CLL Chronic Lymphocytic Leukaemia
CML Chronic Myeloid Leukemia
CMML Chronic Myelomonocytic Leukemia
DLBCL Diffused Large B-Cell Lymphoma
FL Follicular Lymphoma
HCL Hairy Cell Leukemia
HL Hodgkin Lymphoma
IMT Inflammatory Myofibroblastic Tumor
JMML Juvenile Myelomonocytic Leukemia
MCL Mantle Cell Lymphoma
MDS Myelodysplastic Syndrome
MM Multiple Myeloma
MPD Myeloproliferative Disorder
MPN Myeloproliferative Neoplasm
MPS Myeloproliferative Syndrome
NHL Non-Hodgkin Lymphoma
PCL Plasma Cell Leukemia
PCM Plasma cell Myeloma
PCNSL Primary Central Nervous System Lymphoma
PMBCL Primary Mediastinal B-Cell Lymphoma
PV Polycythemia vera
SLVL Splenic Lymphoma with Villous Lymphocytes
SMCD Systemic Mast Cell Disease
T-ALL T-Cell Acute Lymphoblastic Leukemia
TLL T-Cell Lymphocytic Lymphoma
TRL Treatment/Therapy Related Leukemia

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 16 of 17
Shazia
AGE: 25 years | Gender: Female | Coupon/UID: NA / NA

Dr. Ritika Chauhan, Ph.D Dr. Shruthi. P. S., M.D. Pathology


Lead Genome analyst Senior Hematopathologist
KMC Registration No. 78159

END OF REPORT

MedGenome Labs Ltd. Sy. Nos. 94/1C and 94/2, Tower 1, Ground Floor,
Veerasandra Village, Attibele Hobli, Electronic City Phase-1, Electronics City, Tel : 1800 296 9696 www.medgenome.com
Bangalore, Bangalore South, Karnataka, India, 560100 Page 17 of 17

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