BRAF p.V600E associated poly-neoplastic syndrome

Muhamad Alhaj Moustafa; Liuyan Jiang; Justin J Kuhlman; Jeremy Jones; Yanyan Lou; Olayemi Sokumbi; Han W Tun

doi:10.1177/20363613211012929

BRAF p.V600E associated poly-neoplastic syndrome

Rare Tumors. 2021 Apr 27:13:20363613211012929. doi: 10.1177/20363613211012929. eCollection 2021.

Authors

Muhamad Alhaj Moustafa¹, Liuyan Jiang², Justin J Kuhlman³, Jeremy Jones¹, Yanyan Lou¹, Olayemi Sokumbi⁴, Han W Tun¹

Affiliations

¹ Division of Hematology and Medical Oncology, Mayo Clinic Florida, Jacksonville, FL, USA.
² Department of Pathology, Mayo Clinic Florida, Jacksonville, FL, USA.
³ Department of Internal Medicine, Mayo Clinic Florida, Jacksonville, FL, USA.
⁴ Department of Dermatology, Mayo Clinic Florida, Jacksonville, FL, USA.

Abstract

We report a male patient who developed eight different cancers between ages 57 and 64. BRAF p.V600E mutation was detected in Langerhans cell histiocytosis, chronic lymphocytic leukemia, histiocytic sarcoma, melanoma, and adenocarcinoma of the lung. It was not detected in multiple myeloma, basal cell carcinoma, and papillary thyroid cancer. BRAF p.V600E was not detected in normal skin tissue biopsy indicating that BRAF V600E was a somatic mutation affecting cancer cells. The presence of eight different cancers with five of them positive for BRAF p.V600E in a single patient is unprecedented. This type of BRAF p.V600E-associated poly-neoplastic syndrome has never been reported in the medical literature.

Keywords: BRAF p.V600E mutation; chronic lymphocytic leukemia; histiocytosis; lung Cancer; melanoma; poly-neoplastic Syndrome.

Publication types

Case Reports