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Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis
BACKGROUND: Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is an extremely uncommon pancreatic neoplasm that comprises less than 1% of all exocrine pancreatic tumors. To date, cases and data from whole-exome sequencing (WES) analysis have been reported by specific studies. We r...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318525/ https://www.ncbi.nlm.nih.gov/pubmed/32590950 http://dx.doi.org/10.1186/s12876-020-01351-7 |
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author | Yang, Guangjian Yin, Jiangxia Ou, Kai Du, Qiang Ren, Wenhao Jin, Yujing Peng, Liming Yang, Lin |
author_facet | Yang, Guangjian Yin, Jiangxia Ou, Kai Du, Qiang Ren, Wenhao Jin, Yujing Peng, Liming Yang, Lin |
author_sort | Yang, Guangjian |
collection | PubMed |
description | BACKGROUND: Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is an extremely uncommon pancreatic neoplasm that comprises less than 1% of all exocrine pancreatic tumors. To date, cases and data from whole-exome sequencing (WES) analysis have been reported by specific studies. We report a case of pancreatic UC-OGC with a literature review, and provide novel insights into the molecular characteristics of this tumor entity. CASE PRESENTATION: A 31-year-old male presented with intermittent abdominal pain for several months, and positron emission tomography (PET) showed isolated high metabolic nodules during the pancreatic uncinate process that were likely to be malignant disease. Pathological examination after radical excision revealed UC-OGC associated with poorly differentiated adenocarcinoma at the head of the pancreas. The disease recurred 7.4 months after radical surgery. The KRAS p.G12D (c.35G > A) and somatic BRCA2 p.R2896C (c.8686C > T) mutations were detected by subsequent WES analysis. The patient showed no response to platinum-based systemic chemotherapy, and his condition quickly worsened. He finally died, with an overall survival of 1 year. CONCLUSIONS: As an extremely uncommon tumor entity, UC-OGC is really a unique variant of conventional pancreatic ductal adenocarcinoma due to its similarities, as shown by genomic WES analysis. Clinical examination and molecular analysis by WES could further indicate potential treatment strategies for UC-OGC. |
format | Online Article Text |
id | pubmed-7318525 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-73185252020-06-29 Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis Yang, Guangjian Yin, Jiangxia Ou, Kai Du, Qiang Ren, Wenhao Jin, Yujing Peng, Liming Yang, Lin BMC Gastroenterol Case Report BACKGROUND: Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is an extremely uncommon pancreatic neoplasm that comprises less than 1% of all exocrine pancreatic tumors. To date, cases and data from whole-exome sequencing (WES) analysis have been reported by specific studies. We report a case of pancreatic UC-OGC with a literature review, and provide novel insights into the molecular characteristics of this tumor entity. CASE PRESENTATION: A 31-year-old male presented with intermittent abdominal pain for several months, and positron emission tomography (PET) showed isolated high metabolic nodules during the pancreatic uncinate process that were likely to be malignant disease. Pathological examination after radical excision revealed UC-OGC associated with poorly differentiated adenocarcinoma at the head of the pancreas. The disease recurred 7.4 months after radical surgery. The KRAS p.G12D (c.35G > A) and somatic BRCA2 p.R2896C (c.8686C > T) mutations were detected by subsequent WES analysis. The patient showed no response to platinum-based systemic chemotherapy, and his condition quickly worsened. He finally died, with an overall survival of 1 year. CONCLUSIONS: As an extremely uncommon tumor entity, UC-OGC is really a unique variant of conventional pancreatic ductal adenocarcinoma due to its similarities, as shown by genomic WES analysis. Clinical examination and molecular analysis by WES could further indicate potential treatment strategies for UC-OGC. BioMed Central 2020-06-26 /pmc/articles/PMC7318525/ /pubmed/32590950 http://dx.doi.org/10.1186/s12876-020-01351-7 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Yang, Guangjian Yin, Jiangxia Ou, Kai Du, Qiang Ren, Wenhao Jin, Yujing Peng, Liming Yang, Lin Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis |
title | Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis |
title_full | Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis |
title_fullStr | Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis |
title_full_unstemmed | Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis |
title_short | Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis |
title_sort | undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring kras and brca mutations: case report and whole exome sequencing analysis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318525/ https://www.ncbi.nlm.nih.gov/pubmed/32590950 http://dx.doi.org/10.1186/s12876-020-01351-7 |
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