A clinicopathologic and molecular analysis of five cases of bronchiolar adenoma with rare mutations.
ALK rearrangement
BRAF V600E
NRAS
bronchiolar adenoma
ciliated muconodular papillary tumor
Journal
Pathology international
ISSN: 1440-1827
Titre abrégé: Pathol Int
Pays: Australia
ID NLM: 9431380
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
16
11
2021
accepted:
25
01
2022
pubmed:
3
3
2022
medline:
19
5
2022
entrez:
2
3
2022
Statut:
ppublish
Résumé
Bronchiolar adenoma (BA) is a rare benign lung tumor that shows proliferation of bland bronchiolar-type epithelium containing a continuous layer of basal cells. This tumor entity has been newly added to the recent World Health Organization (WHO) classification 5th edition. This entity encompasses a spectrum of lesions: the classic ciliated muconodular papillary tumor (CMPT) and the non-classic CMPT. Although BA is reported to have driver mutations including BRAF V600E, EGFR, and KRAS, the molecular profile of BA is still incompletely understood. Five resected BAs at our institutions were analyzed. The BA lesions were subdivided into two groups: three proximal-type BAs and two distal-type BAs. NRAS codon 12/13 mutation and EML4 exon 20-ALK exon 20 fusion were found in two of the three proximal-types. BRAF V600E mutation was found in one of the two distal-types. Two cases coexisted with lung adenocarcinoma, with EGFR exon 19 deletion and KRAS mutation, respectively. No recurrence was observed at a median of 12 months (range 2-84 months) of follow-up. BA has uncommon variants of mutation seen in lung adenocarcinoma. NRAS mutation and ALK fusion partner has not been reported previously. The present cases may reinforce the distinctive biology of BA from lung adenocarcinoma.
Substances chimiques
ErbB Receptors
EC 2.7.10.1
Receptor Protein-Tyrosine Kinases
EC 2.7.10.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
273-282Informations de copyright
© 2022 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
Références
Chang JC, Beasley MB, Ishikawa Y, Rekhtman N, Yoshida A. Bronchiolar adenoma/ciliated muconodular papillary tumor. In: Borczuk AC, Cooper WA, Dacic S, Galateau-Salle F, Jain D, Kerr KM et al. editors. WHO classification of tumours. Thoracic tumours. 5th ed. Lyon: International Agency for Research on Cancer; 2021. p. 48-50.
Ishikawa Y. Ciliated muconodular papillary tumor of the peripheral lung: benign or malignant? Pathol Clin Med (Byori-to-Rinsho). 2002;20:964-5(in Japanese).
Chang JC, Montecalvo J, Borsu L, Lu S, Larsen BT, Wallace WD, et al. Bronchiolar adenoma: expansion of the concept of ciliated muconodular papillary tumors with proposal for revised terminology based on morphologic, immunophenotypic, and genomic analysis of 25 cases. Am J Surg Pathol. 2018;42:1010-26.
Sato S, Koike T, Homma K, Yokoyama A. Ciliated muconodular papillary tumour of the lung: a newly defined low-grade malignant tumour. Int Cardiovasc Thorac Surg. 2010;11:685-7.
Hata Y, Yuasa R, Sato F, Otsuka H, Goto H, Isobe K, et al. Ciliated muconodular papillary tumor of the lung: a newly defined low-grade malignant tumor with CT findings reminiscent of adenocarcinoma. Jpn J Clin Oncol. 2013;43:205-7.
Chuang HW, Liao JB, Chang HC, Wang JS, Lin SL, Hsieh PP. Ciliated muconodular papillary tumor of the lung: a newly defined peripheral pulmonary tumor with conspicuous mucin pool mimicking colloid adenocarcinoma: a case report and review of literature. Pathol Int. 2014;64:352-7.
Kamata T, Yoshida A, Kosuge T, Watanabe S, Asamura H, Tsuta K. Ciliated muconodular papillary tumors of the lung: a clinicopathologic analysis of 10 cases. Am J Surg Pathol. 2015;39:753-60.
Kamata T, Sunami K, Yoshida A, Shiraishi K, Furuta K, Shimada Y, et al. Frequent BRAF or EGFR mutations in ciliated muconodular papillary tumors of the lung. J Thorac Oncol. 2015;11:261-5.
Liu L, Aesif SW, Kipp BR, Voss JS, Daniel S, Aubry MC, et al. Ciliated muconodular papillary tumor of the lung can occur in western patients and show mutations in BRAF and AKT1. Am J Surg Pathol. 2016;40:1631-6.
Kon T, Baba Y, Fukai I, Watanabe G, Uchiyama T, Murata T. Ciliated muconodular papillary tumor of the lung: a report of five cases. Pathol Int. 2016;66:633-9.
Lau KW, Aubry MC, Tan GS, Lim CH, Takano AM. Ciliated muconodular papillary tumor: a solitary peripheral lung nodule in a teenage girl. Hum Pathol. 2016;49:22-6.
Ishikawa M, Sumitomo S, Imamura N, Nishida T, Mineura K, Ono K. Ciliated muconodular papillary tumor of the lung: report of five cases. J Surg Case Rep. 2016;8:1-4.
Jin Y, Shen X, Shen L, Sun Y, Chen H, Li Y. Ciliated muconodular papillary tumor of the lung harboring ALK gene rearrangement: case report and review of the literature. Pathol Int. 2017;67:171-5.
Taguchi R, Higuchi K, Sudo M, Misawa K, Miyamoto T, Mishima O, et al. A case of anaplastic lymphoma kinase (ALK)-positive ciliated muconodular papillary tumor (CMPT) of the lung. Pathol Int. 2017;67:99-104.
Kim L, Kim YS, Lee JS, Choi SJ, Park IS, Han JY, et al. Ciliated muconodular papillary tumor of the lung harboring BRAF V600E mutation and p16INK4a overexpression without proliferative activity may represent an example of oncogene-induced senescence. J Thorac Dis. 2017;9:E1039-44.
Udo E, Furusato B, Sakai K, Prentice LM, Tanaka T, Kitamura Y, et al. Ciliated muconodular papillary tumors of the lung with KRAS/BRAF/AKT1 mutation. Diagn Pathol. 2017;12:62.
Miyai K, Takeo H, Nakayama T, Obara K, Aida S, Sato K, et al. Invasive form of ciliated muconodular papillary tumor of the lung: a case report and review of the literature. Pathol Int. 2018;68:530-5.
Zheng Q, Luo R, Jin Y, Shen X, Shan L, Shen L, et al. So-called “non-classic” ciliated muconodular papillary tumors: a comprehensive comparison of the clinicopathological and molecular features with classic ciliated muconodular papillary tumors. Human Pathol. 2018;82:193-201.
Kataoka T, Okudela K, Matsumura M, Mitsui H, Suzuki T, Koike C, et al. A molecular pathological study of four cases of ciliated muconodular papillary tumors of lung. Pathol Int. 2018;68:353-8.
Abe M, Osoegawa A, Miyawaki M, Noda D, Karashima T, Takumi Y, et al. Ciliated muconodular papillary tumor of the lung: a case report and literature review. Gen Thorac Cardiovasc Surg. 2020;68:1344-9.
Cheung FMF, Guan J, Luo QG, Sihoe ADL, Shen XP. Ciliated muconodular papillary tumor of the lung mimicking mucinous adenocarcinoma: a case report and literature review. Hong Kong Med J. 2019;25:71-3.
Kashima J, Hishima T, Tonooka A, Horiguchi S, Motoi T, Okuma Y, et al. Genetic and immunohistochemical analyses of ciliated muconodular papillary tumors of the lung: a report of five cases. SAGE Open Med Case Rep. 2019;7:1-5.
Mikubo M, Maruyama R, Kakinuma H, Yoshida T, Satoh Y. Ciliated muconodular papillary tumor of the lung: cytologic features and diagnostic pitfalls in intraoperative examinations. Diagn Cytopathol. 2019;47:716-9.
Shao K, Wang Y, Xue Q, Mu J, Gao Y, Wang Y, et al. Clinicopathological features and prognosis of ciliated muconodular papillary tumor. J Cardiothorac Surg. 2019;14:143.
Shen L, Lin J, Ren Z, Wang B, Zhao K, Lu Y, et al. Ciliated muconodular papillary tumor of the lung: report of two cases and review of the literature. J Surg Case Rep. 2019;8:1-3.
Uchida T, Matsubara H, Ohnuki Y, Sugimura A, Matsuoka H, Ichihara T, et al. Ciliated muconodular papillary tumor of the lung presenting with polymyalgia rheumatica-like symptoms: a case report. AME Case Rep. 2019;3:37.
Yao X, Gong Y, Zhou J, Lyu M, Zhang H, Zhou H, et al. A surgical case of ciliated muconodular papillary tumor. Thorac Cancer. 2019;10:1019-22.
Tachibana M, Saito M, Kobayashi J, Isono T, Yatabe Y, Tsutsumi Y. Distal-type bronchiolar adenoma of the lung expressing p16INK4a - morphologic, immunohistochemical, ultrastructural and genomic analysis - report of a case and review of the literature. Pathol Int. 2020;70:179-85.
Guo Y, Shi Y, Tong J. Bronchiolar adenoma: a challenging diagnosis based on frozen sections. Pathol Int. 2020;70:186-8.
Sun Y, Liu M, Jiang Z, Li B. Bronchiolar adenoma with diffuse pulmonary nodules: a extremely rare case report and review of literature. BMC Pulm Med. 2020;20:192.
Murakami K, Yutaka Y, Nakajima N, Yoshizawa A, Date H. Ciliated muconodular papillary tumor with a growing cavity shadow that mimicked colorectal metastasis to the lung: a case report. Surg Case Rep. 2020;6:231.
Yang X, Hou Y, Geng J, Geng J, Meng H. Ciliated muconodular papillary tumors of the lung: distinct molecular features of an insidious tumor. Front Genet. 2020;11:579737.
Liu S, Liu N, Xiao M, Wang L, Wang EH. First case of bronchiolar adenoma lined purely by mucinous luminal cells with molecular analysis. Medicine. 2020;99:e22322.
Yang C, Wang X, Da J, Ma K. Distal-type bronchiolar adenoma of the lung harboring an EGFR exon 21 p.L858R mutation: a case report. Thorac Cancer. 2020;11:3596-8.
Shao J, Yin JC, Bao H, Zhao R, Han Y, Zhu L, et al. Morphological, immunohistochemical, and genetic analyses of bronchiolar adenoma and its putative variants. J Pathol Clin Res. 2021;7:287-300.
Shirsat H, Zhou F, Chang JC, Rekhtman N, Saqi A, Argyropoulos K, et al. Bronchiolar adenoma/pulmonary ciliated muconodular papillary tumor: potential pitfall on frozen sections. Am J Clin Pathol. 2020;155:832-44.
Wang Y, Wang D, Wang J, Zhao S, Ren D, Chen G, et al. Primary ciliated muconodular papillary tumor: a rare pulmonary disease and literature review of 65 cases. Thorac Cancer. 2021;12:1917-22.
Suzuki S, Komori M, Hirai M, Ureshino N, Kimura S. Development of a novel, fully-automated genotyping system: principle and applications. Sensors. 2012;12:16614-27.
Fujii T, Uchiyama T, Matsuoka M, Myojin T, Sugimoto S, Nitta Y, et al. Evaluation of DNA and RNA quality from archival formalin-fixed paraffin-embedded tissue for next-generation sequencing-retrospective study in Japanese single institution. Pathol Int. 2020;70:602-11.
Kinno T, Tsuta K, Shiraishi K, Mizukami T, Suzuki M, Yoshida A, et al. Clinicopathological features of non-small cell lung carcinomas with BRAF mutations. Ann Oncol. 2014;25:138-42.
Shigematsu H, Gazdar AF. Somatic mutations of epidermal growth factor receptor signaling pathway in lung cancers. Int J Cancer. 2006;118:257-62.
Solomon B, Varella-Garcia M, Camidge R. ALK gene rearrangements: a new therapeutic target in a molecularly defined subset of non-small cell lung cancer. J Thorac Oncol. 2009;4:1450-4.
Horn L, Pao W. EML4-ALK: honing in on a new target in non-small-cell lung cancer. J Clin Oncol. 2009;27:4232-5.
Sasaki T, Rodig SJ, Chirieac LR, Jänne PA. The biology and treatment of EML4-ALK non-small cell lung cancer. Eur J Cancer. 2010;46:1773-80.
Ohashi K, Sequist LV, Arcila ME, Lovly CM, Chen X, Rudin CM, et al. Characteristics of lung cancers harboring NRAS mutations. Clin Cancer Res. 2013;19:2584-91.
Haigis KM, Kendall KR, Wang Y, Cheung A, Haigis MC, Glickman JN, et al. Differential effects of oncogenic K-Ras and N-Ras on proliferation, differentiation and tumor progression in the colon. Nat Genet. 2008;40:600-8.
Jura N, Scotto-Lavino E, Sobczyk A, Bar-Sagi D. Differential modification of Ras proteins by ubiquitination. Mol Cell. 2006;21:679-87.