A novel aberration of COL1A1-PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location.

Journal of Cutaneous Pathology
Alexander DaoudJacqueline R Batanian

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare sarcoma of the skin arising from the dermis. Its location is most commonly presented on the trunk of middle-aged adults and rarely on the face. The characteristic genetic aberration in the form of a reciprocal translocation t(17;22)(q21;q13) or a ring fusing the COL1A1 and PDGFB genes is found in 90% of DFSP. We present a case of a 42-year-old man who presented with a DFSP on the left cheek with foci of myxoid-fibrosarcomatous transformation. A conventional chromosomal analysis revealed a complex karyotype without a supernumerary ring chromosome or a linear translocation t(17;22). Comparative genome hybridization and fluorescence in-situ hybridization revealed the fusion of COL1A1 and PDGFB probes inserted in chromosome 15. This is a unique case of DFSP characterized by a rare body location, unique histopathological features, and novel chromosome COL1A1-PDGFB insertion, and may help guide future diagnostic and patient care modalities.

References

Jun 3, 2006·Archives of Pathology & Laboratory Medicine·Osama M Al-Agha, Farah Tabassum
Jan 12, 2010·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Bizhan BandarchiGolnar Rasty
Mar 3, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Piotr RutkowskiUNKNOWN Southwest Oncology Group
Feb 8, 2011·Head & Neck Oncology·Nikolaos AngouridakisAngelos Nikolaou
Aug 2, 2011·Ophthalmic Plastic and Reconstructive Surgery·Jeff M GosheJulian D Perry
Jan 24, 2012·Journal of Clinical Imaging Science·Joseph L GatlinMajid Khan
Feb 1, 2012·Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.]·Benjamin BoguckiEva A Hurst
Aug 24, 2012·International Journal of Dermatology·Kelechi EguzoDanny Milner
Apr 24, 2014·Journal of the American Academy of Dermatology·Christine A LiangChrysalyne D Schmults
Nov 4, 2016·Annals of Diagnostic Pathology·Khin ThwayCyril Fisher
Jun 30, 2018·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Bérengère Dadone-MontaudiéDaniel Pissaloux
Jul 18, 2018·Genes, Chromosomes & Cancer·Brendan C DicksonCristina R Antonescu

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.