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

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

Hematology / Oncology / Cancer Center / Breast Clinic

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Journal	Rare Tumors
Volume	13
DOIs	https://doi.org/10.1177/20363613211012929
State	Published - 2021

Keywords

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

ASJC Scopus subject areas

Histology
Oncology

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10.1177/20363613211012929

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title = "BRAF p.V600E associated poly-neoplastic syndrome",

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",

author = "{Alhaj Moustafa}, Muhamad and Liuyan Jiang and Kuhlman, {Justin J.} and Jeremy Jones and Yanyan Lou and Olayemi Sokumbi and Tun, {Han W.}",

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year = "2021",

doi = "10.1177/20363613211012929",

language = "English (US)",

volume = "13",

journal = "Rare Tumors",

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T1 - BRAF p.V600E associated poly-neoplastic syndrome

AU - Alhaj Moustafa, Muhamad

AU - Jiang, Liuyan

AU - Kuhlman, Justin J.

AU - Jones, Jeremy

AU - Lou, Yanyan

AU - Sokumbi, Olayemi

AU - Tun, Han W.

N1 - Publisher Copyright: © The Author(s) 2021.

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - BRAF p.V600E mutation

KW - chronic lymphocytic leukemia

KW - histiocytosis

KW - lung Cancer

KW - melanoma

KW - poly-neoplastic Syndrome

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DO - 10.1177/20363613211012929

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JO - Rare Tumors

JF - Rare Tumors

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BRAF p.V600E associated poly-neoplastic syndrome

Abstract

Keywords

ASJC Scopus subject areas

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