Document Detail

Spectral karyotyping reveals 17;22 fusions in a cytogenetically atypical dermatofibrosarcoma protuberans with a large marker chromosome as a sole abnormality.
MedLine Citation:
PMID:  11319805     Owner:  NLM     Status:  MEDLINE    
The presence of an extra ring chromosome containing material from 17q and 22q, or, less frequently, a t(17;22)(q22;q13), is a cytogenetic hallmark of dermatofibrosarcoma protuberans (DFSP). However, occasionally tumors with other, atypical karyotypes are encountered. We describe a case of recurrent DFSP without a ring chromosome or a t(17;22) on standard cytogenetic analysis. In all cells analyzed by G-banding, an additional, large marker chromosome was present as a sole abnormality. This chromosome apparently included chromosome 8 or the 8q arm, but the origin of its remaining part could not be determined with certainty. To characterize further the abnormal chromosome, we applied spectral karyotyping (SKY). SKY confirmed the presence of an extra chromosome 8 or arm 8q in the marker and showed that its remaining part was composed of segments from chromosomes 7, 17, 21, and 22, with two copies of a 17;22 fusion. Our results and the literature data suggest that, in addition to a specific 17;22 fusion, amplification of material from chromosomes 17, 22, 8, 5, 7, and 21 may play a role in DFSP development and/or progression. Furthermore, our case demonstrates the usefulness of SKY in detection of a diagnostically relevant 17;22 fusion in DFSP patients who have unusual karyotypic features.
K Mrózek; M Iliszko; J Ryś; M Babińska; A Niezabitowski; C D Bloomfield; J Limon
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  31     ISSN:  1045-2257     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-04-25     Completed Date:  2001-07-12     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  182-6     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Division of Hematology and Oncology, and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA.
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MeSH Terms
Chromosome Painting
Chromosomes, Human, Pair 17 / genetics*
Chromosomes, Human, Pair 22 / genetics*
Chromosomes, Human, Pair 8 / genetics
Dermatofibrosarcoma / genetics*
Genetic Markers / genetics
Karyotyping / methods
Neoplasm Recurrence, Local
Ring Chromosomes
Skin Neoplasms / genetics*
Translocation, Genetic / genetics*
Grant Support
Reg. No./Substance:
0/Genetic Markers

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