title: Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
abstract: We report two unrelated patients with infantile spinal muscular atrophy (SMA) types II and IIIa who developed alveolar rhabdomyosarcoma (ARMS) at 15 and 19 years, respectively. The tumours were located in the forearm, within severely atrophic flexor muscles. They displayed a similar histology and shared the most common translocation, t(2;13)(q35;14) in ARMS. Since cell proliferation is increased in de- and regenerating muscle and the PAX3/FKHR fusion protein activates myogenic transcription, it is tempting to speculate whether severe muscle atrophy in SMA might predispose to malignant transformation in long-standing disease.
authors.affiliation: Institute for Human Genetics, University Clinic, University of Technology, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany. srudnik-schoeneborn@ukaachen.de
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Dirk
authors.initials: D
authors.lastname: Anhuf
authors.forename: Ewa
authors.initials: E
authors.lastname: Koscielniak
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
mesh_terms: D000293:Adolescent; D049109:Cell Proliferation; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D004198:Disease Susceptibility; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D006801:Humans; D008297:Male; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D018232:Rhabdomyosarcoma, Alveolar / Q000209:etiology* / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors