Solid Papillary Breast Carcinomas Resembling the Tall Cell Variant of Papillary Thyroid Neoplasms (Solid Papillary Carcinomas with Reverse Polarity) Harbor Recurrent Mutations Affecting IDH2 and PIK3CA A Validation Cohort. /
AIMS: Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (BPTC), also known as solid papillary carcinoma with reverse polarity, is a rare histologic type of breast cancer that morphologically resembles the tall cell variant of papillary thyroid carcinoma...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2018
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| Sorozat: | HISTOPATHOLOGY
73 No. 2 |
| doi: | 10.1111/his.13522 |
| mtmt: | 3361212 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/14418 |
| LEADER | 02778nab a2200265 i 4500 | ||
|---|---|---|---|
| 001 | publ14418 | ||
| 005 | 20190116144136.0 | ||
| 008 | 190116s2018 hu o 0|| angol d | ||
| 022 | |a 0309-0167 | ||
| 024 | 7 | |a 10.1111/his.13522 |2 doi | |
| 024 | 7 | |a 3361212 |2 mtmt | |
| 040 | |a SZTE Publicatio Repozitórium |b hun | ||
| 041 | |a angol | ||
| 100 | 1 | |a Lozada John R. | |
| 245 | 1 | 0 | |a Solid Papillary Breast Carcinomas Resembling the Tall Cell Variant of Papillary Thyroid Neoplasms (Solid Papillary Carcinomas with Reverse Polarity) Harbor Recurrent Mutations Affecting IDH2 and PIK3CA |h [elektronikus dokumentum] : |b A Validation Cohort. / |c Lozada John R. |
| 260 | |c 2018 | ||
| 300 | |a 339-344 | ||
| 490 | 0 | |a HISTOPATHOLOGY |v 73 No. 2 | |
| 520 | 3 | |a AIMS: Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (BPTC), also known as solid papillary carcinoma with reverse polarity, is a rare histologic type of breast cancer that morphologically resembles the tall cell variant of papillary thyroid carcinoma. BPTCs are characterized by IDH2 R172 hotspot somatic mutations or mutually exclusive TET2 somatic mutations, concurrently with mutations affecting PI3K pathway-related genes. We sought to characterize their histology, and investigate the frequency of IDH2 and PIK3CA mutations in an independent cohort of BPTCs, as well as in conventional solid papillary carcinomas (SPCs). METHODS AND RESULTS: Six BPTCs, not previously analyzed molecularly, and 10 SPCs were centrally reviewed. Tumor DNA was extracted from microdissected histological sections, and subjected to Sanger sequencing of the IDH2 R172 hotspot locus and exons 9 and 20 of PIK3CA. All six BPTCs were characterized by solid, papillary and follicular architecture with circumscribed, invasive tumor nodules composed of epithelial cells with reverse polarity. IDH2 mutations were identified in all six BPTCs (3 R172S, 2 R172T, and 1 R172G), four of which also harbored PIK3CA mutations (2 H1047R, 1 Q546K, and 1 Q546R). By contrast, all SPCs lacked IDH2 mutations, whilst 1/10 harbored a PIK3CA mutation (H1047R). CONCLUSION: We validated the presence of IDH2 R172 hotspot mutations and PIK3CA hotspot mutations in 100% and 67% BPTCs tested, respectively, and documented absence of IDH2 R172 mutations in SPCs. These findings confirm the genotypic-phenotypic correlation previously reported in BPTC, which constitutes an entity distinct from conventional SPC. This article is protected by copyright. All rights reserved. | |
| 700 | 0 | 1 | |a Basili Thais |e aut |
| 700 | 0 | 1 | |a Pareja Fresia |e aut |
| 700 | 0 | 1 | |a Alemar Barbara |e aut |
| 700 | 0 | 1 | |a Paula Arnaud Da Cruz |e aut |
| 700 | 0 | 1 | |a Cserni Gábor |e aut |
| 856 | 4 | 0 | |u http://publicatio.bibl.u-szeged.hu/14418/1/3361212.pdf |z Dokumentum-elérés |