Naslov
Case Report on Croatian Family with BAP1 predisposition syndrome (mother and daughter)

Autori
Ferara, Nikola ; Vujević, Luka ; Haralović, Vanda ; Buljan, Marija ;

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
EADV 31TH CONGRESS 2022 / - , 2022, 86-86

Skup
EADV 31TH CONGRESS 2022

Mjesto i datum
Milano, Italija, 07.09.2022. - 10.09.2022

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
BAP-oma ; melanoma ; BAP1 tumor predisposition syndrome ;

Sažetak
BAP1 tumour predisposition syndromeis caused by germline mutations in the BRCA1 associated protein 1 (BAP1) gene, atumour suppressor genelocated on chromosome 3.Family members affected by the mutation tend to develop characteristic melanocytic neoplasms, so called BAP1 negative melanocytic tumours (BIMTs), along with several types of visceral malignancies (pleural mesothelioma, uveal melanoma, clear cell renal cell carcinomaand other). Here wereportacase of a 48-year old female patientand her 27-year old daughter, both currently under assessment of BAP1 tumour predisposition syndrome. Initially, 48-year old patient noticed poor vision in her left eye. MRI scan of theleft orbitand brain showed growing uveal tumour, which is why patient underwent enucleation of theleft bulbus. Histopathological examination confirmed melanoma of thecilliary body (pG2, pT4b) with athickness of 13 mm.Further diagnostic imaging (neck and abdomen ultrasonography, skeletal scintigraphy, chest x-ray) did not show any spread of the primary tumour. Additionally, during skin examination, a peduncular tumour on the upper back, clinically resembling skin tag was noted. Although it was dermoscopically inconspicuous, dueto therepetitivetrauma(irritated by clothing) it was fully excised. Histopathological analysis revealed melanocytic tumor of uncertain malignant potential (MELTUMP), which was later on verified as a BIMT, using immunohistochemical (IHC) staining that demonstrated negative nuclear staining on BAP1 protein (lack of BAP1 in nucleus). Dueto IHC analysis and the history of uveal melanoma, BAP1 tumour predisposition syndrome was suspected and reexcision around thescar was performed, together with sentinel lymph node biopsy (SLNB) of nodes in both axillas and PETscan, which was unremarkable. In addition, one more BIMT was diagnosed, beneath theleft scapula. Clinically it was soft, tan and dome- shaped papule with thefollowing dermoscopicaspect: red background with diffuselinear and arborising vessels and shiny whitelines.Thorough family history revealed that patient’s mother also had an eyetumour, because of which she underwent bulbus enucleation. Because of the high suspicion on BAP1 predisposition syndrome patient’s siblings werealso examined. Her son had no suspicious skin lesions, but her daughter had two peculiar tumors on the neck and trunk excised and afterwards proven to be BIMTs, by histopathological examination and IHC staining. Currently thereare no specific, evidence- based guidelines for management of patients with BIMTs, but malignant potential of BIMTs is uncertain and transformation into melanomacan occur. Additionally, BAP1 tumor predisposition syndromeis related to visceral malignancies.Therefore, both of our patients arescheduled for regular skin examinations and periodical screening for visceral malignancies.Since BIMT’s usually precedevisceral malignancies, early and cautious dermoscopy of sometimes inconspicuous skin lesion is of substantial valuein diagnosing BAP1 tumour predisposition syndrome and possibly improving prognosis in these patients. Clinical, dermoscopic , histological and IHC images of BIMT will be provided as well.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA