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Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma
- Source :
- Modern Pathology. 33:235-244
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
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.
- Subjects :
- Male
0301 basic medicine
Pathology
medicine.medical_specialty
Monosomy
Tumor suppressor gene
Pleural Neoplasms
Pathology and Forensic Medicine
03 medical and health sciences
Mesothelial hyperplasia
0302 clinical medicine
Predictive Value of Tests
Biomarkers, Tumor
otorhinolaryngologic diseases
medicine
Humans
Genetic Predisposition to Disease
Mesothelioma
In Situ Hybridization, Fluorescence
Aged
Retrospective Studies
Aged, 80 and over
Hemizygote
Neurofibromin 2
BAP1
Hyperplasia
medicine.diagnostic_test
business.industry
Tumor Suppressor Proteins
Mesothelioma, Malignant
Reproducibility of Results
Middle Aged
respiratory system
Prognosis
medicine.disease
Immunohistochemistry
respiratory tract diseases
Phenotype
030104 developmental biology
Purine-Nucleoside Phosphorylase
030220 oncology & carcinogenesis
Female
Chromosomes, Human, Pair 9
business
Ubiquitin Thiolesterase
Chromosome 22
Gene Deletion
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 08933952
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- Modern Pathology
- Accession number :
- edsair.doi.dedup.....8c5e8aed35ee65b520c393f1ed4da73f