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Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas
Published on: September 13, 2019
Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
Sabine Rudnik-Schöneborn1, Dirk Anhuf, Ewa Koscielniak
1Institute for Human Genetics, University Clinic, University of Technology, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany. srudnik-schoeneborn@ukaachen.de
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.
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