BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

Abstract

BackgroundBRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations.Case presentationHere, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings.ConclusionsThis knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors.

Dermoscopy of BAP1‐inactivated melanocytic tumours

“…In comparison, we encountered all of the above‐mentioned patterns in our case series, except network with raised, structureless pink‐to‐tan areas. Moreover, several other sporadic case reports confirmed that these lesions most commonly present as well‐defined pink or pinkish/brownish papules/nodules, which may or may not have subtle linear/comma vessels or pigmented parts (globules or network) at the periphery 2,4,7–10 . Additional dermoscopic features in our case series include shiny white lines and a bluish hue, both found in clinically otherwise unremarkable pink‐to‐tan dome‐shaped papules.…”

“…1 Only a small number of studies describing both clinical and dermoscopic findings of BIMTs are published in the literature and are summarised in Table 1. [2][3][4][5][6][7][8][9][10] The largest study by Yelamos and colleagues included 48 lesions from 31 patients in which the dermoscopic findings were grouped into 5 patterns: structureless pink-to-tan with irregular dots/globules located eccentrically; structureless pink-to-tan with peripheral vessels; structureless pink-to-tan; network with raised, structureless, pink-to-tan areas; and globular pattern. The structureless pink-to-tan with irregular dots/globules pattern was significantly more frequent in syndromic cases, as well as the pattern showing network and raised structureless areas, while a purely globular pattern was not found in any syndromic case in their study.…”

“…Only a small number of studies describing both clinical and dermoscopic findings of BIMTs are published in the literature and are summarised in Table 1 2–10 …”

BAP1 inactivated melanocytic tumor: a case report.

“…Clinically, they appear as dome‐shaped, pink, well‐circumscribed, smooth papules averaging 5 mm in diameter, typically on the head and neck as well as the trunk and upper extremities 10 . Patients with a BAP1 tumor predisposition syndrome usually develop multiple BIMT (between 5 and 50 tumors each in affected family members) 11 . A clinical resemblance to dermal nevi or fibromas can be seen 10 .…”

BAP1‐inaktivierter melanozytärer Tumor: ein Fallbericht

“…Klinisch imponieren sie als kuppelförmige, rosafarbene, gut umschriebene, glatte, durchschnittlich 5 mm durchmessende Papeln, typischerweise im Kopf‐ und Halsbereich sowie an Rumpf und oberen Extremitäten 10 . Patienten mit BAP1 ‐Tumorprädispositionssyndrom entwickeln in der Regel multiple BIMT (bei betroffenen Familienmitgliedern jeweils zwischen 5 und 50 Tumoren) 11 . Es besteht eine klinische Ähnlichkeit mit dermalen Naevi oder Fibromen 10 .…”