Top

Published in:

01-03-2020 | Fluorescence in Situ Hybridization | Brief Report

Malignant mesothelioma in situ diagnosed by methylthioadenosine phosphorylase loss and homozygous deletion of CDKN2A: a case report

Authors: Kazuhiro Minami, Naoe Jimbo, Yugo Tanaka, Daisuke Hokka, Yoshifumi Miyamoto, Tomoo Itoh, Yoshimasa Maniwa

Published in: Virchows Archiv | Issue 3/2020

Abstract

Malignant pleural mesothelioma (MPM), associated with unfavorable outcomes, is closely associated with asbestos exposure. Early detection and treatment are critical to prolong survival of patients with MPM because of the rapid progression and resistance to treatment. The recently defined malignant mesothelioma in situ (MIS) has been gaining increasing attention with advances in genome-based methods including fluorescence in situ hybridization (FISH) as well as immunohistochemistry. We herein report the case of a MIS in a 73-year-old male with a history of asbestos exposure presenting with massive pleural effusion in the right thoracic cavity. Video-assisted thoracoscopic surgery with pleural biopsy of the right side revealed a single layer of atypical mesothelial cells without invasive lesions by hematoxylin and eosin staining. However, these mesothelial cells exhibited a loss of methylthioadenosine phosphorylase (MTAP) by immunohistochemistry and homozygous deletion of CDKN2A (p16) by FISH, leading to the diagnosis of MIS.

Tsao AS, Wistuba I, Roth JA, Kindler HL (2009) Malignant pleural mesothelioma. J Clin Oncol 27(12):2081–2090CrossRef

Stayner L, Welch LS, Lemen R (2013) The worldwide pandemic of asbestos-related diseases. Annu Rev Public Health 34(1):205–216CrossRef

Whitaker D, Henderson DW, Shilkin KB (1992) The concept of mesothelioma in situ: implications for diagnosis and histogenesis. Semin Diagn Pathol 9(2):151–161PubMed

Hiroshima K, Yusa T, Kameya T, Ito I, Kaneko K, Kadoyama C, Kishi H, Saitoh Y, Ozaki D, Itami M, Iwata T, Iyoda A, Kawai T, Yoshino I, Nakatani Y (2009) Malignant pleural mesothelioma: clinicopathology of 16 extrapleural pneumonectomy patients with special reference to early stage features. Pathol Int 59(8):537–545CrossRef

Hida T, Hamasaki M, Matsumoto S, Sato A, Tsujimura T, Kawahara K, Iwasaki A, Okamoto T, Oda Y, Honda H, Nabeshima K (2017) Immunohistochemical detection of MTAP and BAP1 protein loss for mesothelioma diagnosis: comparison with 9p21 FISH and BAP1 immunohistochemistry. Lung Cancer 104:98–105CrossRef

Churg A, Hwang H, Tan L, Qing G, Taher A, Tong A, Bilawich AM, Dacic S (2018) Malignant mesothelioma in situ. Histopathology 72(6):1033–1038CrossRef

Kinoshita Y, Hida T, Hamasaki M, Matsumoto S, Sato A, Tsujimura T, Kawahara K, Hiroshima K, Oda Y, Nabeshima K (2018) A combination of MTAP and BAP1 immunohistochemistry in pleural effusion cytology for the diagnosis of mesothelioma. Cancer Cytopathol 126(1):54–63CrossRef

Churg A, Sheffield BS, Galateau-Salle F (2016) New markers for separating benign from malignant mesothelial proliferations: are we there yet? Arch Pathol Lab Med 140(4):318–321CrossRef

Illei PB, Rusch VW, Zakowski MF, Ladanyi M (2003) Homozygous deletion of CDKN2A and codeletion of the methylthioadenosine phosphorylase gene in the majority of pleural mesotheliomas. Clin Cancer Res 9(6):2108–2113PubMed

10.

Chiosea S, Krasinskas A, Cagle PT, Mitchell KA, Zander DS, Dacic S (2008) Diagnostic importance of 9p21 homozygous deletion in malignant mesotheliomas. Modern Pathol 21(6):742–747CrossRef

11.

Husain AN, Colby TV, Ordóñez NG, Allen TC, Attanoos RL, Beasley MB, Butnor KJ, Chirieac LR, Churg AM, Dacic S, Galateau-Sallé F, Gibbs A, Gown AM, Krausz T, Litzky LA, Marchevsky A, Nicholson AG, Roggli VL, Sharma AK, Travis WD, Walts AE, Wick MR (2017) Guidelines for pathologic diagnosis of malignant mesothelioma 2017 update of the consensus statement from the international mesothelioma interest group. Arch Pathol Lab Med 142(1):89–108CrossRef

12.

Simon F, Johnen G, Krismann M, Muller KM (2005) Chromosomal alterations in early stages of malignant mesotheliomas. Virchows Arch 447(4):762–767CrossRef

13.

Krismann M, Muller KM, Jaworska M, Johnen G (2002) Molecular cytogenetic differences between histological subtypes of malignant mesotheliomas: DNA cytometry and comparative genomic hybridization of 90 cases. J Pathol 197(3):363–371CrossRef

14.

Hwang H, Tse C, Rodriguez S, Gown A, Churg A (2014) p16 FISH deletion in surface epithelial mesothelial proliferations is predictive of underlying invasive mesothelioma. Am J Surg Pathol 38(5):681–688CrossRef

Title: Malignant mesothelioma in situ diagnosed by methylthioadenosine phosphorylase loss and homozygous deletion of CDKN2A: a case report
Authors: Kazuhiro Minami
Naoe Jimbo
Yugo Tanaka
Daisuke Hokka
Yoshifumi Miyamoto
Tomoo Itoh
Yoshimasa Maniwa
Publication date: 01-03-2020
Publisher: Springer Berlin Heidelberg
Keywords: Fluorescence in Situ Hybridization
Pleural Effusion
Mesothelioma
Published in: Virchows Archiv / Issue 3/2020
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-019-02674-x

At a glance: The STEP trials

Springer Medicine

Malignant mesothelioma in situ diagnosed by methylthioadenosine phosphorylase loss and homozygous deletion of CDKN2A: a case report

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2020

Compound blue nevus: a reappraisal of the concept in the genomic era

Assessing the impact of the 2018 American Society of Clinical Oncology/College of American Pathologists recommendations on human epidermal growth factor receptor 2 testing by fluorescence in situ hybridization in breast carcinoma

A review on tumor heterogeneity and evolution in multiple myeloma: pathological, radiological, molecular genetics, and clinical integration

GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma

Assessment of two different HER2 scoring systems and clinical relevance for colorectal cancer

Loss of microfibril-associated protein 5 (MFAP5) expression in colon cancer stroma