Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy

Journal of Cutaneous Pathology
Susan M BigbyPennie J Symmans

Abstract

The most frequent molecular abnormality observed in dermatofibrosarcoma protuberans (DFSP) is the formation of a supernumerary ring chromosome or translocation resulting in fusion of the gene encoding the alpha-chain of type 1 collagen, COL1A1 from 17q22, to the platelet-derived growth factor beta-chain, PDGFB gene from 22q13. Rare cases documenting variant ring or marker chromosomes involving regions other than 17q22 and 22q13 have been reported. Further analysis in three of these cases demonstrated the presence of the COL1A1 and PDGFB genes. We report a further case of DFSP with a rare variant ring chromosome. The tumor appeared to undergo accelerated growth during pregnancy, then metastasized following pregnancy. We describe the clinical, histological, immunohistochemical, and cytogenetic features. The metastatic tumor showed a variant r(17;?) chromosome. A locus-specific probe was required to demonstrate presence of the PDGFB gene within the ring, indicating cryptic molecular rearrangement between chromosomes 17 and 22, and recombination with an unknown chromosome. Cryptic rearrangement of chromosomes 17 and 22 should be suspected in variant ring chromosomes and translocations. Pregnancy may contribute to accelerated growth...Continue Reading

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Citations

Sep 25, 2007·The American Journal of Dermatopathology·Thomas MentzelMichal Michal
Jul 19, 2012·Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.]·Kyle A Anderson, Allison T Vidimos
Jun 7, 2016·Clinics in Dermatology·Joanna L WalkerMartin A Weinstock
Jan 31, 2012·Actas dermo-sifiliográficas·C Serra-GuillénO Sanmartín
Jun 8, 2018·Journal of Surgical Oncology·Tian MengXiao Long
Mar 16, 2019·Current Treatment Options in Oncology·Takeshi IwasakiYoshinao Oda
Apr 6, 2021·International Journal of Dermatology·Nour KibbiGauri Panse

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