P53 Gene Mutation Identified by Next Generation Sequencing in Poorly Differentiated Neuroendocrine Carcinoma of the Nasal Cavity

P53 Gene Mutation Identified by Next Generation Sequencing in Poorly Differentiated... Neuroendocrine carcinomas (NECs) are epithelial neoplasms showing morphologic, immunophenotypic or ultrastructural evidence of neuroendocrine differentiation. The 2017 WHO Classification of Head and Neck Tumours classifies NECs into well, moderately and poorly differentiated NECs according to light microscopic features, mitotic rate and presence of tumour necrosis. In this study, we performed next generation sequencing (NGS) using a targeted 161 cancer gene panel on a poorly differentiated NEC of the nasal cavity. The tumour was composed of large cells arranged in poorly formed glands and solid nests. The mitotic count rate was 30/10 HPFs and p53 protein was strongly expressed in all tumour cells. NGS identified a missense mutation, c.764T > G (p.Ile255Ser) in the TP53 gene with an allele frequency of 85%. This mutation results in an isoleucine to serine substitution and a non-functional protein. No other mutations were identified. These results suggest that TP53 mutations may drive oncogenesis in poorly differentiated NECs of the head and neck. Keywords Neuroendocrine carcinoma · TP53 mutation · Next-generation sequencing · Head and neck · Nasal cavity Introduction with or without necrosis. The latter category includes small and large cell NECs, which are distinguished based on the Neuroendocrine carcinomas (NECs) are malignant epithe- cytologic features of the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Head and Neck Pathology Springer Journals

P53 Gene Mutation Identified by Next Generation Sequencing in Poorly Differentiated Neuroendocrine Carcinoma of the Nasal Cavity

Loading next page...
 
/lp/springer_journal/p53-gene-mutation-identified-by-next-generation-sequencing-in-poorly-00T880lpgQ
Publisher
Springer US
Copyright
Copyright © 2018 by Springer Science+Business Media, LLC, part of Springer Nature
Subject
Medicine & Public Health; Pathology; Otorhinolaryngology; Oral and Maxillofacial Surgery; Dentistry
eISSN
1936-0568
D.O.I.
10.1007/s12105-018-0934-2
Publisher site
See Article on Publisher Site

Abstract

Neuroendocrine carcinomas (NECs) are epithelial neoplasms showing morphologic, immunophenotypic or ultrastructural evidence of neuroendocrine differentiation. The 2017 WHO Classification of Head and Neck Tumours classifies NECs into well, moderately and poorly differentiated NECs according to light microscopic features, mitotic rate and presence of tumour necrosis. In this study, we performed next generation sequencing (NGS) using a targeted 161 cancer gene panel on a poorly differentiated NEC of the nasal cavity. The tumour was composed of large cells arranged in poorly formed glands and solid nests. The mitotic count rate was 30/10 HPFs and p53 protein was strongly expressed in all tumour cells. NGS identified a missense mutation, c.764T > G (p.Ile255Ser) in the TP53 gene with an allele frequency of 85%. This mutation results in an isoleucine to serine substitution and a non-functional protein. No other mutations were identified. These results suggest that TP53 mutations may drive oncogenesis in poorly differentiated NECs of the head and neck. Keywords Neuroendocrine carcinoma · TP53 mutation · Next-generation sequencing · Head and neck · Nasal cavity Introduction with or without necrosis. The latter category includes small and large cell NECs, which are distinguished based on the Neuroendocrine carcinomas (NECs) are malignant epithe- cytologic features of the

Journal

Head and Neck PathologySpringer Journals

Published: May 29, 2018

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off