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- Title
Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation.
- Authors
Emiko Udo; Bungo Furusato; Kazuko Sakai; Prentice, Leah M.; Tomonori Tanaka; Yuka Kitamura; Tomoshi Tsuchiya; Naoya Yamasaki; Takeshi Nagayasu; Kazuto Nishio; Junya Fukuoka
- 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.
- Subjects
PAPILLARY carcinoma; PULMONARY nodules; EXFOLIATIVE cytology; IMMUNOHISTOCHEMISTRY; HEPATOCYTE nuclear factors; GENETIC mutation
- Publication
Diagnostic Pathology, 2017, Vol 12, p1
- ISSN
1746-1596
- Publication type
Article
- DOI
10.1186/s13000-017-0651-2