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Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation


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Title: Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation
Authors: Udo, Emiko / Furusato, Bungo / Sakai, Kazuko / Prentice, Leah M / Tanaka, Tomonori / Kitamura, Yuka / Tsuchiya, Tomoshi / Yamasaki, Naoya / Nagayasu, Takeshi / Nishio, Kazuto / Fukuoka, Junya
Issue Date: 22-Aug-2017
Publisher: BioMed Central Ltd.
Citation: Diagnostic Pathology, 12, 62; 2017
Abstract: Background: Ciliated muconodular papillary tumors (CMPTs) are newly recognized rare peripheral lung nodules that are histologically characterized by ciliated columnar, goblet, and basal cells. Although recent studies have shown that CMPTs constitute a neoplastic disease, the complete histogenesis of CMPTs is not fully understood and molecular data are limited. Methods: We reviewed four cases of CMPT and performed immunohistochemical and genomic analyses to establish CMPT profiles. Results: All cases were positive for hepatocyte nuclear factor-4α and mucin 5B and negative for programmed death ligand 1 expression, as determined by immunohistochemistry. The genetic analysis revealed three pathogenic mutations (BRAF V600E, AKT1 E17K, and KRAS G12D), with the KRAS mutation reported here for the first time. Conclusion: Histological and genetic profiles indicate that CMPTs are likely neoplastic and exhibit features similar to mucinous adenocarcinoma. This suggests that some CMPTs may be a precursor lesion of mucinous adenocarcinoma.
Keywords: Ciliated muconodular papillary tumor / CMPT / Next-generation sequencing / Mutation / BRAF / RAS / AKT1
URI: http://hdl.handle.net/10069/37764
DOI: 10.1186/s13000-017-0651-2
Rights: © The Author(s). 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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.
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/37764

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