Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
- MeSH
- bazocelulární nádory genetika patologie MeSH
- buněčná diferenciace MeSH
- deubikvitinizační enzym CYLD MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- lidé MeSH
- mladiství MeSH
- mnohočetné primární nádory genetika patologie MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory kožních adnex genetika patologie MeSH
- nádory kůže genetika patologie MeSH
- Patched receptory MeSH
- receptor Patched 1 MeSH
- receptory buněčného povrchu genetika MeSH
- rodokmen MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- CYLD protein, human MeSH Prohlížeč
- deubikvitinizační enzym CYLD MeSH
- nádorové supresorové proteiny MeSH
- Patched receptory MeSH
- PTCH1 protein, human MeSH Prohlížeč
- receptor Patched 1 MeSH
- receptory buněčného povrchu MeSH
We report a patient with multiple trichoepitheliomas whose biopsy material also demonstrated a range of other neoplasms with follicular differentiation, including small nodular trichoblastoma, small nodular basal cell carcinoma (BCC), and areas resembling infundibulocystic BCC/basaloid follicular hamartoma. These were all intimately associated with otherwise typical trichoepitheliomas that dominated the microscopic appearances. Peripheral blood and tumor tissues of the patient and his 2 daughters, who apparently had a milder phenotype, were studied for alterations in the CYLD and PTCH genes, but mutations or loss of heterozygosity was not found in either gene. The occurrence of multiple follicular neoplasms within a single lesion adds evidence that, although in most cases BCC and trichoblastoma are distinct lesions, the 2 neoplasms do encompass a morphological spectrum of follicular differentiation, which is probably more overtly expressed in syndromic patients.
Citace poskytuje Crossref.org
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