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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

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

Emiko Udo¹, Bungo Furusato², Kazuko Sakai³

¹Department of Pathology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.

Diagnostic Pathology

|August 24, 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:

AKT1 BRAF CMPT Ciliated muconodular papillary tumor Mutation Next-generation sequencing RAS

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Keywords:

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