Karyotypic characterization of infant embryonal rhabdomyosarcoma

Muntean, Andrea; Bergsträsser, Eva; Diepold, Miriam; Niggli, Felix K; Betts, David R (2008). Karyotypic characterization of infant embryonal rhabdomyosarcoma. Cancer genetics and cytogenetics, 180(2), pp. 145-8. New York, N.Y.: Elsevier 10.1016/j.cancergencyto.2007.09.020

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Despite embryonal rhabdomyosarcoma (eRMS) representing the most frequent form of RMS, the karyotypic characterization of this tumor subtype is still incomplete. We report the karyotypic analysis of two new cases of infant-onset eRMS. Both cases had a hyperdiploid karyotype, including gain of chromosomes 2 and 8. Only one of the cases showed a structural aberration, an unbalanced rearrangement involving 4p. These cases, together with a review of the literature, suggest that a karyotypic subgroup exists in infant eRMS that is defined by hyperdiploidy (<53 chromosomes) and includes gain of chromosomes 2, 8, 11, and 17, with few or no structural aberrations. Hence, this report illustrates that distinct karyotypic subgroups may be found in eRMS, which ultimately may be shown to have prognostic relevance.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Diepold, Miriam
ISSN:	0165-4608
ISBN:	18206541
Publisher:	Elsevier
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 15:03
Last Modified:	05 Dec 2022 14:19
Publisher DOI:	10.1016/j.cancergencyto.2007.09.020
PubMed ID:	18206541
Web of Science ID:	000252841800009
URI:	https://boris.unibe.ch/id/eprint/27184 (FactScience: 104899)