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Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma.
Mod Pathol 2019MP

Abstract

Neurofibromatosis type 2 (NF2) gene, a tumor suppressor gene located on chromosome 22q12.2, is frequently abnormal in mesothelioma. Recent studies have revealed the effectiveness of diagnostic assays for differentiating malignant pleural mesothelioma from reactive mesothelial hyperplasia. These include detection of homozygous deletion of the 9p21 locus by fluorescence in situ hybridization (FISH) (9p21 FISH), loss of expression of BAP1 as detected by immunohistochemistry, and loss of expression of methylthioadenosine phosphorylase (MTAP) as detected by immunohistochemistry. However, the application of FISH detection of NF2 gene deletion (NF2 FISH) in differentiation of malignant pleural mesothelioma from reactive mesothelial hyperplasia has not been fully evaluated. In this study, we investigated whether NF2 FISH, either alone or in a combination with other diagnostic assays (9p21 FISH, MTAP immunohistochemistry, and BAP1 immunohistochemistry), is effective for distinguishing malignant pleural mesothelioma from reactive mesothelial hyperplasia. This study cohort included malignant pleural mesothelioma (n = 47) and reactive mesothelial hyperplasia cases (n = 27) from a period between 2001 and 2017. We used FISH to examine deletion status of NF2 and 9p21 and immunohistochemistry to examine expression of MTAP and BAP1 in malignant pleural mesothelioma and in reactive mesothelial hyperplasia. Hemizygous NF2 loss (chromosome 22 monosomy or hemizygous deletion) was detected in 25 of 47 (53.2%) mesothelioma cases. None of the mesothelioma cases showed homozygous NF2 deletion. Hemizygous NF2 loss showed 53.2% sensitivity and 100% specificity in differentiating malignant pleural mesothelioma from reactive mesothelial hyperplasia. A combination of NF2 FISH, 9p21 FISH, and BAP1 immunohistochemistry yielded greater sensitivity (100%) than that detected for either diagnostic assay alone (53.2% for NF2 FISH, 78.7% for 9p21 FISH, 70.2% for MTAP immunohistochemistry, or 57.4% for BAP1 immunohistochemistry). Thus, NF2 FISH in combination with other diagnostic assays is effective for distinguishing malignant pleural mesothelioma from reactive mesothelial hyperplasia.

Authors+Show Affiliations

Department of Pathology, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan. Department of Respiratory Medicine, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan.Department of Pathology, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan.Department of Pathology, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan.Department of Pathology, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan.Department of Thoracic Surgery, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan.Department of Pathology, Fukuoka University Hospital and School of Medicine, Fukuoka, Japan. kaznabes@fukuoka-u.ac.jp.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31231129

Citation

Kinoshita, Yoshiaki, et al. "Hemizygous Loss of NF2 Detected By Fluorescence in Situ Hybridization Is Useful for the Diagnosis of Malignant Pleural Mesothelioma." Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019.
Kinoshita Y, Hamasaki M, Yoshimura M, et al. Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma. Mod Pathol. 2019.
Kinoshita, Y., Hamasaki, M., Yoshimura, M., Matsumoto, S., Iwasaki, A., & Nabeshima, K. (2019). Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma. Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, doi:10.1038/s41379-019-0309-6.
Kinoshita Y, et al. Hemizygous Loss of NF2 Detected By Fluorescence in Situ Hybridization Is Useful for the Diagnosis of Malignant Pleural Mesothelioma. Mod Pathol. 2019 Jun 23; PubMed PMID: 31231129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma. AU - Kinoshita,Yoshiaki, AU - Hamasaki,Makoto, AU - Yoshimura,Masayo, AU - Matsumoto,Shinji, AU - Iwasaki,Akinori, AU - Nabeshima,Kazuki, Y1 - 2019/06/23/ PY - 2019/04/04/received PY - 2019/05/27/accepted PY - 2019/05/27/revised PY - 2019/6/25/entrez JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JO - Mod. Pathol. N2 - Neurofibromatosis type 2 (NF2) gene, a tumor suppressor gene located on chromosome 22q12.2, is frequently abnormal in mesothelioma. Recent studies have revealed the effectiveness of diagnostic assays for differentiating malignant pleural mesothelioma from reactive mesothelial hyperplasia. These include detection of homozygous deletion of the 9p21 locus by fluorescence in situ hybridization (FISH) (9p21 FISH), loss of expression of BAP1 as detected by immunohistochemistry, and loss of expression of methylthioadenosine phosphorylase (MTAP) as detected by immunohistochemistry. However, the application of FISH detection of NF2 gene deletion (NF2 FISH) in differentiation of malignant pleural mesothelioma from reactive mesothelial hyperplasia has not been fully evaluated. In this study, we investigated whether NF2 FISH, either alone or in a combination with other diagnostic assays (9p21 FISH, MTAP immunohistochemistry, and BAP1 immunohistochemistry), is effective for distinguishing malignant pleural mesothelioma from reactive mesothelial hyperplasia. This study cohort included malignant pleural mesothelioma (n = 47) and reactive mesothelial hyperplasia cases (n = 27) from a period between 2001 and 2017. We used FISH to examine deletion status of NF2 and 9p21 and immunohistochemistry to examine expression of MTAP and BAP1 in malignant pleural mesothelioma and in reactive mesothelial hyperplasia. Hemizygous NF2 loss (chromosome 22 monosomy or hemizygous deletion) was detected in 25 of 47 (53.2%) mesothelioma cases. None of the mesothelioma cases showed homozygous NF2 deletion. Hemizygous NF2 loss showed 53.2% sensitivity and 100% specificity in differentiating malignant pleural mesothelioma from reactive mesothelial hyperplasia. A combination of NF2 FISH, 9p21 FISH, and BAP1 immunohistochemistry yielded greater sensitivity (100%) than that detected for either diagnostic assay alone (53.2% for NF2 FISH, 78.7% for 9p21 FISH, 70.2% for MTAP immunohistochemistry, or 57.4% for BAP1 immunohistochemistry). Thus, NF2 FISH in combination with other diagnostic assays is effective for distinguishing malignant pleural mesothelioma from reactive mesothelial hyperplasia. SN - 1530-0285 UR - https://www.unboundmedicine.com/medline/citation/31231129/Hemizygous_loss_of_NF2_detected_by_fluorescence_in_situ_hybridization_is_useful_for_the_diagnosis_of_malignant_pleural_mesothelioma L2 - http://dx.doi.org/10.1038/s41379-019-0309-6 DB - PRIME DP - Unbound Medicine ER -