Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases
Jazyk angličtina Země Anglie, Velká Británie Médium print
Typ dokumentu kazuistiky, časopisecké články
Grantová podpora
Q39
Charles University Research Fund
FN 00669806
Charles University Research Fund
PubMed
30851202
DOI
10.1111/his.13856
Knihovny.cz E-zdroje
- Klíčová slova
- carcinoid, kidney, next-generation sequencing, primary, well-differentiated neuroendocrine tumour,
- MeSH
- buněčná diferenciace MeSH
- CD antigeny genetika MeSH
- dioxygenasy MeSH
- DNA vazebné proteiny genetika MeSH
- dospělí MeSH
- imunohistochemie MeSH
- kadheriny genetika MeSH
- karcinoid genetika metabolismus patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery genetika metabolismus MeSH
- nádory ledvin genetika metabolismus patologie MeSH
- neuroendokrinní nádory genetika metabolismus patologie MeSH
- protoonkogenní proteiny genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- ztráta heterozygozity MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- CD antigeny MeSH
- CDH1 protein, human MeSH Prohlížeč
- dioxygenasy MeSH
- DNA vazebné proteiny MeSH
- kadheriny MeSH
- nádorové biomarkery MeSH
- protoonkogenní proteiny MeSH
- TET2 protein, human MeSH Prohlížeč
AIMS: Primary renal well-differentiated neuroendocrine tumour (NET) (hereafter referred to as renal NET) is rare, with ~100 cases having been reported in the literature. There are also limited data on the molecular-genetic background of primary renal NETs. METHODS AND RESULTS: We analysed 11 renal NETs by using next-generation sequencing (NGS) to identify characteristic genetic aberrations. All tumours were positive for synaptophysin, and also expressed insulinoma-associated protein 1 (10/11), chromogranin-A (8/11), and CD56 (3/11). Cytoplasmic positivity of CD99 was present in eight of 11 cases, and strong nuclear expression of α-thalassaemia/mental retardation syndrome X-linked (ATRX) was retained in all 11 cases. Molecular-genetic analysis of aberration of VHL gave negative results in all cases. Loss of heterozygosity on chromosome 3p21 was found in three of nine analysable cases. NGS was successful in nine cases, showing a total of 56 variants being left after the updated filtering process, representing an average of five variants per sample. All analysable cases were negative for ATRX and DAXX (death-domain associated protein X) mutations. The most frequently mutated genes were CDH1 and TET2, with three mutations in two cases. Mutations in AKT3, ROS1, PIK3R2, BCR and MYC were found in two cases. The remaining 41 genes were found to be mutated only in individual cases. In four cases, the mutations affected a subset of genes related to angiogenesis. CONCLUSIONS: Overall, the mutation profile of primary renal NETs is variable, and none of the studied genes or affected pathways seems to be specific for renal NET.
Department of Diagnostic Pathology Kochi Red Cross Hospital Kochi Japan
Department of Pathology Central Military Hospital Prague Prague Czech Republic
Department of Pathology Centro Medico Mexico City Mexico
Department of Pathology Cytopathos Bratislava Slovakia
Department of Pathology Faculty of Medicine in Plzen Charles University Prague Pilsen Czech Republic
Department of Pathology INCAN Mexico City Mexico
Department of Pathology Regional Hospital Havirov Havirov Czech Republic
Department of Pathology School of Medicine Zagreb Croatia
Department of Pathology University of Erlangen Erlangen Germany
Department of Pathology Wojewódzki Szpital Specjalistyczny Wroclaw Poland
Department of Urology Faculty of Medicine in Plzeň Charles University Prague Pilsen Czech Republic
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