Abstract
Rhabdomyosarcoma (RMS) is a malignant mesenchymal (myogenic) tumor , and diagnosed on cytology as one of the Blue round cell tumors of paediatric age group. Here we are reporting a case of right side abdominal mass in a three-year-old child whose FNA smears, along with immunocytochemistry was diagnosed as RMS. The intriguing finding on smears was the presence of a large number of malignant elongated cells which stained with both desmin and myogenin, as crisply as the round cell component.The diagnosis of Spindle cell variant of subtype, embryonal was further confirmed on histopathology sections and extended IHC panel.This variant is itself rare and nonparatesticular regions are further infrequent in paediatric population.
Highlights
Rhabdomyosarcoma (RMS) is a malignant mesenchymal tumor of myogenic origin
Spindle cell variant of embryonal RMS was firstdescribed in children in 1992
Frequent and recurrent MyoD1 homozygous p.L122R mutations have been identified as pathognomonic events in adult-type spindle cell RMS 10–12 and have unfavorable prognosis because of broader morphological spectrum, including sclerosing and pseudovascular types. 12
Summary
Rhabdomyosarcoma (RMS) is a malignant mesenchymal tumor of myogenic origin. Three major variants with characteristic histologic appearances are embryonal, alveolar, and pleomorphic. Alveolar RMS is associated with a specific chromosomal translocation, t(2;13)(q35;q14), or its variant, t(1;13)(p36;q14), resulting in the formation of a fusion gene, PAX3-FKHR or PAX7-FKHR , while recurrent genetic alteration has not been identified in either embryonal and pleomorphic RMS. Recurrent NCOA2 gene rearrangements in a small subset of spindle cell RMS occurring in infants has been noted.
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