Spectral karyotyping reveals 17;22 fusions in a cytogenetically atypical dermatofibrosarcoma protuberans with a large marker chromosome as a sole abnormality

Genes, Chromosomes & Cancer
K MrózekJ Limon

Abstract

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 fusi...Continue Reading

References

Jan 1, 1992·Cancer Genetics and Cytogenetics·C F StephensonA A Sandberg
Oct 15, 1990·Cancer Genetics and Cytogenetics·J A BridgeA A Sandberg
Jun 15, 1987·International Journal of Cancer. Journal International Du Cancer·N MandahlF Mitelman
May 1, 1995·Genes, Chromosomes & Cancer·F MinolettiG Sozzi
Mar 1, 1995·Cancer Genetics and Cytogenetics·R D CraverT Van Brunt
Jul 15, 1994·Cancer Genetics and Cytogenetics·J Sinovic, J A Bridge
Jul 26, 1996·Science·E SchröckT Ried
Jul 1, 1996·Cancer Genetics and Cytogenetics·N MandahlF Mitelman
Jul 15, 1996·Cancer Genetics and Cytogenetics·F PedeutourC Turc-Carel
Apr 13, 1999·Cancer Genetics and Cytogenetics·H SonobeK Shimizu
Jul 27, 1999·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·N J LindnerW F Enneking
Aug 30, 2000·Virchows Archiv : an International Journal of Pathology·R VanniK P O'Brien
Jan 1, 1995·International Journal of Oncology·G StenmanL Kindblom

❮ Previous
Next ❯

Citations

Dec 17, 2016·The American Journal of Dermatopathology·Jad SaabTravis J Hollmann
Jul 23, 2009·The American Journal of Surgical Pathology·Wael Al-DarajiMarkku Miettinen
Oct 21, 2009·World Journal of Gastroenterology : WJG·Takehiro OkabayashiKazuhiro Hanazaki

❮ 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.