Alhaj Moustafa Muhamad, Jiang Liuyan, Kuhlman Justin J, Jones Jeremy, Lou Yanyan, Sokumbi Olayemi, Tun Han W
Division of Hematology and Medical Oncology, Mayo Clinic Florida, Jacksonville, FL, USA.
Department of Pathology, Mayo Clinic Florida, Jacksonville, FL, USA.
Rare Tumors. 2021 Apr 27;13:20363613211012929. doi: 10.1177/20363613211012929. eCollection 2021.
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.
我们报告了一名男性患者,他在57岁至64岁之间患了八种不同的癌症。在朗格汉斯细胞组织细胞增多症、慢性淋巴细胞白血病、组织细胞肉瘤、黑色素瘤和肺腺癌中检测到BRAF p.V600E突变。在多发性骨髓瘤、基底细胞癌和甲状腺乳头状癌中未检测到该突变。在正常皮肤组织活检中未检测到BRAF p.V600E,这表明BRAF V600E是一种影响癌细胞的体细胞突变。一名患者身上出现八种不同癌症,其中五种BRAF p.V600E呈阳性,这是前所未有的。医学文献中从未报道过这种类型的BRAF p.V600E相关的多肿瘤综合征。