Melanoma With Loss of BAP1 Expression in Patients With No Family History of BAP1-Associated Cancer Susceptibility Syndrome: A Case Series.

The American Journal of Dermatopathology
Phyu P AungCarlos A Torres-Cabala

Abstract

The presence of multiple BAP1-negative melanocytic neoplasms is a hallmark of familial cancer susceptibility syndrome caused by germline mutations in BAP1. Melanocytic tumors lacking BAP1 expression may also present as sporadic lesions in patients lacking a germline BAP1 mutation. Here, we report histomorphologic and clinical characteristics of cutaneous melanomas with loss of BAP1 expression in 4 patients with no known history of BAP1-associated cancer susceptibility syndrome. The lesions were nodular melanomas composed predominantly of intradermal large epithelioid (Spitzoid) melanocytes with nuclear pseudoinclusions as well as scattered multinucleated cells, arising in association with a typical intradermal nevus. Of the 4 patients, only 1 had recurrence. This patient had multiple recurrences with in-transit and regional lymph node metastases. To the best of our knowledge, this is the first reported series of cutaneous melanomas with loss of BAP1 expression arising in patients without a family history of cancer.

References

Aug 30, 2011·Nature Genetics·Joseph R TestaMichele Carbone
Aug 30, 2011·Nature Genetics·Thomas WiesnerMichael R Speicher
Sep 1, 2012·Journal of Translational Medicine·Michele CarboneHaining Yang
Oct 4, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Thomas WiesnerMichael R Speicher
Apr 4, 2013·Nature Reviews. Cancer·Michele CarboneGiovanni Gaudino
May 21, 2013·American Journal of Human Genetics·Tatiana PopovaMarc-Henri Stern
Aug 27, 2013·PloS One·Lauren G AoudeNicholas K Hayward
Sep 11, 2013·Pathology·Rajmohan MuraliRichard A Scolyer
Apr 8, 2014·The American Journal of Surgical Pathology·Iwei YehPhilip E LeBoit
Dec 7, 2014·Human Pathology·Adriano PirisMai P Hoang

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Citations

Feb 26, 2020·Journal of Cutaneous Pathology·Lyn M Duncan, Michael T Tetzlaff
Jul 24, 2020·Journal of Cutaneous Pathology·Shyam S RaghavanRyanne A Brown
Nov 2, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Victor G Prieto
Jul 11, 2020·The American Journal of Dermatopathology·Amber LouwNima Mesbah Ardakani
Aug 10, 2020·The American Journal of Dermatopathology·Michele DonatiDmitry V Kazakov
Sep 21, 2020·Archives of Medical Research·Carlos Torres-CabalaWen-Jen Hwu
Dec 4, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Michele DonatiDmitry V Kazakov

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