BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome

Atypical Presentation of BAP-1 Inactivated Melanocytic Tumor

“…BIMT is considered a type of intermediate melanocytic tumor, that has been recently described [ 1 ]. Clinically BIMTs are described as a unique skin-colored to reddish-brown, dome-shaped to pedunculated well-circumscribed papule, from 2 to 10 mm in diameter [ 2 ]. Dermoscopically BIMTs are characterized by homogenous pink or milky red background with sparse linear or arborising vessels [ 3 ].…”

“…BAP1 is a tumor suppressor gene, and mutations of this gene result in some human cancers. Germline mutations have been described in families with a hereditary increased risk of certain cancers like cutaneous and uveal melanoma, malignant mesothelioma, renal cell carcinoma and other internal malignancies like lung or breast cancer [ 2 , 4 ].…”

“…If the proliferation is higher, it is considered a high-grade dysplasia BIMT and the suggested resection margins are from 5 to 10 mm [ 1 ]. Genetic counseling should be given according to personal and familial history of malignancies and in cases of multiples BIMTs [ 2 , 5 ].…”

A Spitzoid Tumor dataset with clinical metadata and Whole Slide Images for Deep Learning models

“…HRAS mutations can also be found in these tumors. Furthermore, the genetic studies have helped to separate different entities, like BAP1-inactivated melanocytic tumors, which were initially considered a subgroup of ST since their histologic features overlap with STUMP 10 – 12 . Also, the presence of TERT promotor mutations favors the malignant potential of these neoplasms 2 , 8 , 13 .…”