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Article

Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome.

Journal of medical genetics - 1 Sept 2022

Igaz Peter, Toth Geza, Nagy Peter, Dezső Katalin, Turai Peter Istvan, Medvecz Marta, Wikonkal Norbert, Huszty Gergely, Piros László, Toth Erika, Bozsik Aniko, Likó István, Patócs Attila, Butz Henriett

Abstract excerpt

Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed...

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PMID: 34916233
DOI: 10.1136/jmedgenet-2021-108082

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