Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors

Journal of Cutaneous Pathology
Dmitry V KazakovMichal Michal

Abstract

The authors report a case of Brooke-Spiegler syndrome (BSS) with a novel germline CYLD mutation and various somatic mutations identified in the lesional tissues. The patient was a 46-year-old man with multiple lesions on the face. The available histopathological material included 24 trichoepitheliomas, 2 large nodular basal cell carcinomas (BCCs), 2 spiradenomas, 1 spiradenocylindroma and 1 trichoblastoma composed of large and small nodules with prominent clear cell differentiation. Whereas one of the two BCCs manifested a conventional morphology, the second neoplasm additionally showed foci with high grade cytological features characterized by marked pleomorphism and numerous mitotic figures. There were also numerous signet ring cells and cells containing intracytoplasmic eosinophilic inclusions. The germline mutation was a substitution mutation c.1684 + 1G> A. Somatic mutations were investigated in eight tissue blocks from which high quality genomic DNA had been successfully extracted. Somatic mutations included loss of heterozygosity (LOH) in four lesions and a single sequence mutation, namely a single base deletion c. 2322delA causing a frameshift mutation E774DfsX2. LOH occurred in both BCCs, one trichoepithelioma and one ...Continue Reading

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Citations

Jan 12, 2012·Journal of Skin Cancer·K C MasoumiRamin Massoumi
Dec 25, 2012·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Daman Deep SinghJörg Handschel
Jul 25, 2012·Critical Reviews in Oncology/hematology·Giovanni PontiAldo Tomasi
Mar 15, 2016·Head and Neck Pathology·Dmitry V Kazakov
Aug 19, 2014·Journal of the European Academy of Dermatology and Venereology : JEADV·D GuardoliC Longo
Feb 6, 2017·Surgical Pathology Clinics·Raja R Seethala
Oct 28, 2014·The American Journal of Dermatopathology·Tomas VanecekDmitry V Kazakov
Sep 27, 2018·The American Journal of Dermatopathology·Gunes Cakmak GencBurcin Acuner
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Sep 8, 2016·Cancers of the Head & Neck·Krista Roberta VerhoeftVivian Wai Yan Lui
Apr 29, 2021·The Journal of Dermatology·Tomoyuki MinowaHisashi Uhara

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