Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors

Virchows Archiv : an International Journal of Pathology
Emilie PerronArnaud de la Fouchardiere

Abstract

The current classification of melanocytic tumors includes clinical, pathological, and molecular data. A subset of lesions remains difficult to classify according to these complex multilayer schemes. We report two cases of deeply infiltrating melanomas with a sclerosing background. The first case occurred on the back of a middle-aged man appearing clinically as a dermatofibroma. The architectural and cytological aspects resembled those of a desmoplastic melanoma but the strong expression of both melanA and HMB45, two stainings usually reported as negative in this entity, raised the question of an alternate diagnosis. The second case was a large, slowly growing, perivulvar tumor in a middle-aged woman. The morphology was complex with a central junctional spitzoid pattern associating an epidermal hyperplasia with large nests of large spindled melanocytes. The dermal component was made of deeply invasive strands and nests of nevoid unpigmented melanocytes surrounded by fibrosis; a perineural invasion was present at the periphery of the lesion. In both cases, aCGH found, among many other anomalies, a chromosomal breakpoint at the BRAF locus. RNA sequencing identified in both an AKAP9-BRAF gene fusion. A complementary resection was p...Continue Reading

References

Feb 7, 2004·International Journal of Surgical Pathology·Paul A KayAntonio G Nascimento
Jan 5, 2005·The Journal of Clinical Investigation·Raffaele CiampiYuri E Nikiforov
Jan 19, 2006·Genes, Chromosomes & Cancer·Viswanathan MuthusamyMarcus W Bosenberg
Feb 16, 2007·The Journal of Investigative Dermatology·Barbara DessarsPierre Heimann
Jun 8, 2010·Nature Medicine·Nallasivam PalanisamyArul M Chinnaiyan
Dec 27, 2012·Journal of the American Academy of Dermatology·Lucy L ChenAshfaq A Marghoob
Jul 31, 2013·Pigment Cell & Melanoma Research·Thomas BottonBoris C Bastian
Dec 19, 2013·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Katherine E HutchinsonWilliam Pao
Jan 22, 2014·Nature Communications·Thomas WiesnerBoris C Bastian
Jan 28, 2014·Annual Review of Pathology·Boris C Bastian
Sep 11, 2014·Nature Communications·Nicolas StranskyChristoph Lengauer
Jun 16, 2015·Pigment Cell & Melanoma Research·Alexander M MenziesGeorgina V Long
Sep 1, 2015·International Journal of Cancer. Journal International Du Cancer·Jeffrey S RossPhilip J Stephens
Oct 25, 2016·The American Journal of Surgical Pathology·Sapna M AminPedram Gerami
Nov 20, 2016·Pigment Cell & Melanoma Research·Jacqueline TurnerWilliam Robinson
May 4, 2017·Nature·Nicholas K HaywardGraham J Mann

❮ Previous
Next ❯

Citations

Aug 27, 2019·The American Journal of Dermatopathology·Michele DonatiDmitry V Kazakov
Aug 11, 2020·Journal of Cutaneous Pathology·Daniel KimPedram Gerami
Aug 23, 2019·The American Journal of Dermatopathology·Carmelo Urso
Aug 31, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Pedram GeramiKlaus Busam
Jun 4, 2019·Journal of Cutaneous Pathology·Victor L QuanPedram Gerami
Mar 21, 2021·The American Journal of Dermatopathology·Daniel KimPedram Gerami
Aug 28, 2021·Dermatopathology·Arnaud de la FouchardièreNicolas Macagno

❮ 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.