MEDICAL GENETICS LABORATORIES

2450 Holcombe Blvd - Houston, TX 77021 - 1-800-411-4363 Fax:

713-798-2787 - www.bcmgeneticlabs.org - genetictest@ bcm.edu
CANCER GENETICS LABORATORY

SAMPLE REPORT

Cancer Gene Mutation Panel by Next Generation Sequencing

Leukemia Mutation Panel

RESULTS IDH1 c.394C>T (p.R132C) AND SRSF2 c.284C>T (p.P95L) MUTATIONS DETECTED
INTERPRETATION:
We were requested to perform next generation sequence analysis for a panel of over 3,200 mutations in 48 key cancer genes
associated with leukemia on the leukemic blood sample of this individual using the techniques described in methodology section
below.

Our next generation sequencing analysis identified a c.394C>T (p.R132C) mutation of IDH1gene and c.284C>T (p.P95L) mutation of
SRSF2 gene in the leukemic blood sample from the patient. Recent studies showed that IDH1 mutations were found in 7% patients
with AML and R132 was the most common mutated amino acid in IDH1 gene. IDH1 mutations has been described to be associated
with favorable clinical outcome (Patel JP et al., 2012). SRSF2 mutations are commonly seen in myeloid neoplasms with highest
frequencies in CMML, followed by AML with MDS features and MDS subtypes RARS/RCMD-RS (Yoshida K et al., 2011). Recent
studies have indicated that SRSF2 mutations are predictive for shorter survival (Makishima H, at al, 2011).

Patel JP et al., N Engl J Med. 2012 Mar 22;366(12):1079-89. Epub 2012 Mar
14. Yoshida K et al., Nature. 2011 Sep 11;478(7367):64-9.
Makishima H, et al., Blood. 2012 Apr 5;119(14):3203-10.

Mutation(s)
Gene Nucleotide Change Amino Acid Change Exon COSMIC ID Reference(s) / Comments
IDH1 c.394C>T p.R132C 4 28747 confirmed
SRSF2 c.284C>T p.P95L 1 146288 confirmed

Benign Variant(s)
Nucleotide Amino Acid
Gene Change Change Exon COSMIC ID Reference(s) / Comments
PDGFRA c.2472C p.V824V 18 22413 db SNP: rs2228230
>T
No Mutation Detected
ABL1 ASXL1 BRAF CBL CDKN2A CEBPA CREBBP CRLF2
CSF1R CTCF DNM2 DNMT3A EED EP300 ETV6 EZH2
FBXW 7 FLT3 GATA1 HRAS IDH2 IKZF1 IKZF3 IL7R
JAK2 JAK3 KIT KRAS MPL NOTCH1 NPM1 NRAS
PAX5 PDGFRA PHF6 PTEN PTPN11 RELN RUNX1 SF3B1
SUZ12 TAL1 TET2 TP53 U2AF1 WT1

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 MEDICAL GENETICS LABORATORIES
2450 Holcombe Blvd - Houston, TX 77021 - 1-800-411-4363 Fax:
713-798-2787 - www.bcmgeneticlabs.org - genetictest@ bcm.edu
CANCER GENETICS LABORATORY

SAMPLE REPORT

Target below 100X

Gene Target(s)
CDKN p.M53, p.V51
2A
FLT3 p.K614
RB1 E137,
RUNX p.A60, p.D75, p.G69, p.H105, p.L56, p.M466, p.M52, p.R76, p.S100
1
SRSF p.P95
2
W T1 p.H69

METHODOLOGY:
Genomic DNA extracted from this patient’s sample was used for multiplex PCR amplification of 287 amplicons, which target over
3,000 mutations in 48 key cancer genes associated with leukemia, with the Ion AmpliSeq™ Kit. Next generation sequencing was
performed on the Ion Torrent Personal Genome Machine and analyzed with the Torrent Suite Software. DNA sequences used as
references for this panel of genes can be found at http://www.ncbi.nlm.nih.gov/refseq/rsg/. The mutation nomenclature is based on the
convention recommended by the Human Genome Variation Society (http://www.hgvs.org/mutnomen/).

This mutation panel is designed to detect targeted mutations only. Other mutations in the 287 amplicons may not be detected. The 48
genes covered are not all sequenced in their entirety. Mutations outside the 287 amplicons will not be detected. The limit of detection is
5% at 500X coverage and 10% at 200X coverage. This technology cannot reliably detect mutations at coverage below 100X.
Confirmation of mutations is performed by castPCR™ , pyrosequencing, or Sanger sequencing.

Individuals being studied should understand that rare diagnostic errors may occur. Possible sources of diagnostic errors include
sample mix-ups and genotyping errors. Genotyping errors can result from trace contamination of PCR, from rare genetic variants
which interfere with analysis, from mosaicism at levels below standard detection, and from other sources.

Christine M. Eng, M.D. Liu Liu, Ph.D. FACMG

Medical Director Assistant Laboratory Director

This test was developed and its performance determined by this laboratory. It has not been cleared or approved by U.S. Food and Drug Administration. Since FDA is not required for clinical use of this
test, this laboratory has established and validated the test's accuracy and precision, pursuant to the requirement of CLIA '88. This laboratory is licensed and/or accredited under CLIA and CAP. (CAP#
2109314 / CLIA# 45D0660090)

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