Inherited skin tumour syndromes

Brown, Sarah M.; Brennan, Paul; Rajan, Neil

doi:10.7861/clinmedicine.17-6-562

Cited by 8 publications

(5 citation statements)

References 16 publications

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“…Учитывая множественный характер трихоэпителиом, мы продолжили диагностический поиск на предмет наличия генетических вариантов или мутаций [4,[10][11][12]. Большинство наследственных синдромов были исключены из дифференциальной диагностики на основании данных инструментальных исследований, клинических и гистологических данных.…”

Section: дерматоонкологияunclassified

Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas

Gaydina¹,

Дворников²,

Скрипкина³

et al. 2022

Russian Journal of Skin and Venereal Diseases

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BrookeSpiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance. It is clinically manifested by the development of multiple neoplasms of skin appendages such as spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Several phenotypic variants with mutations in gene CYLD have been described in the scientific literature. They are classic BrookeSpiegler syndrome; multiple familial trichoepithelioma syndrome (multiple trichoepitheliomas without cylindromas, spiradenomas, etc.); familial cylindromatosis (multiple cylindromas on the scalp i.e., "turban tumor"); syndrome of multiple spiradenomas or spiradenocylindromas without other neoplasms of the skin appendages. For four diseases associated with CYLD mutations, the prevalence is 1/1 000 000. The scientific literature describes more than 200 cases of BrookeSpiegler syndrome, which is more common in women. Phenotypic manifestations of the CYLD mutation are variable, so there is no reliable statistics on the frequency of occurrence of clinical variants of BrookeSpiegler syndrome. The variety of neoplasms of the skin appendages, the commonality of their histogenesis, the similarity of clinical and histological patterns significantly complicate the diagnosis. Verification of the diagnosis of BrookeSpiegler syndrome is based on histological examination and sequencing of the CYLD gene.

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Section: дерматоонкологияunclassified

Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas

Gaydina¹,

Дворников²,

Скрипкина³

et al. 2022

Russian Journal of Skin and Venereal Diseases

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“…HLRCC is caused by a germline mutation in the fumarate hydratase (FH) gene located on chromosome 1q42. FH encodes an enzyme responsible for catalyzing the conversion of fumarate to malate in the Krebs cycle [25][26][27][28]. This mutation subsequently leads to an accumulation of intracellular fumarate, which mediates various proteomic and epigenetic events, ultimately resulting in activation of HIF-1.…”

Section: Hereditary Papillary Renal Cell Carcinoma (Prcc)mentioning

confidence: 99%

Hereditary renal cell tumors: Clinicopathologic importance

Singh¹,

Divatia²,

Baek³

et al. 2021

ann urol oncol

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Hereditary renal cancer syndromes represent approximately 5% of renal malignancies and have distinctive clinical, histopathologic, and genetic features. Next-generation sequencing and other molecular testing methods have uncovered several hereditary renal cancer syndromes. Several autosomal dominant hereditary renal cell carcinoma (RCC) syndromes, including those related to germline pathogenic variants in VHL, BAP1, MITF, MET, FH, TSC1/TSC2, FLCN, SDH, and CDC73 have been confirmed. FH- and BAP1-related RCCs are associated with more aggressive disease. Identifying the clinical and pathological features in these hereditary RCC syndromes is important as, relative to familial cohorts, these patients require early screening and intervention and regular surveillance to improve their clinical prognosis and long-term outcomes. More importantly, identification of these syndromes plays a vital role in personalized management and systemic treatment selection in this modern era of precision medicine. Ongoing studies have demonstrated that treatment based on genetic pathway targeting is a promising approach for hereditary renal cancer management. This review describes updates in the diagnostic criteria for and management of familial kidney cancer syndromes.

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“…Basaloid cells of sebaceomas are immune reactive for podoplanin. Additionally, podoplanin is non-reactive or focally immune reactive in majority of sebaceous carcinomas, although basaloid variant of sebaceous carcinomas can exhibit the aforementioned immune reactivity [7,8].…”

Section: Immune Histochemical Elucidationmentioning

confidence: 99%

Basaloid and lobulated: Sebaceous adenoma.

Bajaj¹

2019

medical-oncology

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Epithelial membrane antigen (EMA) and non-reactive for Carcino-embryonic antigen (CEA). Basaloid cells of sebaceous neoplasm are immune reactive for cytokeratin 7. Sebaceous adenoma requires distinction from sebaceous hyperplasia, sebaceous carcinoma, disorders with sebaceous differentiation, clear cell variations of eccrine, melanocytic, keratinocytic and xanthomatous conditions. Sebaceous adenoma is adequately managed by a comprehensive surgical excision with consequent minimal tumour reoccurrence.

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Inherited skin tumour syndromes

Cited by 8 publications

References 16 publications

Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas

Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas

Hereditary renal cell tumors: Clinicopathologic importance

Basaloid and lobulated: Sebaceous adenoma.

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