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Embryonal Rhabdomyosarcoma: Pathophysiology Flowchart: Modifiable Risk Factors Non-Modifiable Risk Factors

Embryonal rhabdomyosarcoma (ERMS) exhibits loss of imprinting and loss of heterozygosity on chromosomes 11p, 11q, and 16q which can lead to tumor formation. Histopathological analysis shows ERMS expresses low levels of PAX3 and elevated PAX7. Parameningeal RMS arises from mesenchymal cells and can invade the base of the skull or extend intracranially. Symptoms vary depending on the site of the tumor but may include nasal congestion, eye proptosis, or cranial nerve palsies.

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121 views

Embryonal Rhabdomyosarcoma: Pathophysiology Flowchart: Modifiable Risk Factors Non-Modifiable Risk Factors

Embryonal rhabdomyosarcoma (ERMS) exhibits loss of imprinting and loss of heterozygosity on chromosomes 11p, 11q, and 16q which can lead to tumor formation. Histopathological analysis shows ERMS expresses low levels of PAX3 and elevated PAX7. Parameningeal RMS arises from mesenchymal cells and can invade the base of the skull or extend intracranially. Symptoms vary depending on the site of the tumor but may include nasal congestion, eye proptosis, or cranial nerve palsies.

Uploaded by

Danekka Tan
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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EMBRYONAL RHABDOMYOSARCOMA: PATHOPHYSIOLOGY FLOWCHART

Non-modifiable Risk Factors Modifiable Risk Factors


 Age  Exposures before birth
 Sex  There are no proven lifestyle-
 Inherited conditions related or environmental
 Gene changes causes of RMS

 ERMS exhibits a loss of imprinting (LOI), leading to a twofold gene dosage effect
 Most tumors have at least one 15-Mb region with loss of heterozygosity (LOH) along
chromosome 11
 The allelotype of ERMS demonstrates a high frequency of LOH on chromosomes 11p, 11q, and
16q
 ERMS tumorigenesis can result from the inactivation of the parental bias of chromosome
11p15, which is the most common rearrangement in ERMS
 In histopathological analysis, ERMS expresses low PAX3 levels and elevated PAX7 levels
 Hosoi et al. identified a hidden 2q35 breakpoint as a novel PAX3 rearrangement in complex
chromosomal translocations in ERMS

Parameningeal rhabdomyosarcomas (PM RMS) arise


from pluripotent mesenchymal cells that have the
ability to differentiate into skeletal muscle
Sites: nasopharynx, nasal cavity, PNS, middle ear,
pterygopalatine fossa

Have propensity for base skull invasion and


intracranial extension
Sites: nasopharynx, nasal cavity, PNS, middle ear, Have propensity for base skull invasion and
pterygopalatine fossa intracranial extension

May present with nasal, aural, or sinus Orbit


“congestion” and/or obstruction.
Rapidly progressive eye proptosis, is a common
Often children will also have mucopurulent or manifestation and less commonly
sanguineous discharge. opthalmoplegia in tumors of the orbit.

Tumors may also cause cranial nerve palsies. Headache, vomiting, and systemic hypertension
may occur if the tumor has extended
intracranially.

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