Published in:
Open Access
01-12-2017 | Research
Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation
Authors:
Emiko Udo, Bungo Furusato, Kazuko Sakai, Leah M Prentice, Tomonori Tanaka, Yuka Kitamura, Tomoshi Tsuchiya, Naoya Yamasaki, Takeshi Nagayasu, Kazuto Nishio, Junya Fukuoka
Published in:
Diagnostic Pathology
|
Issue 1/2017
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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.