Role of p16 deletion and BAP1 loss in the diagnosis of malignant mesothelioma

Liu, Jing; Liao, Xuanzhi; Gu, Yingying; Fu, Lin; Li, Longguang; Chen, Zhucheng; Jiang, Juhong

doi:10.21037/jtd.2018.08.59

Cited by 16 publications

(15 citation statements)

References 43 publications

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“…While calretinin and CK5/6 are other markers often used in mesotheliomas, they have been reported by Hartel et al to be focally positive in synovial sarcoma . Other ancillary tests such as deletion of p16 [cyclin‐dependent kinase inhibitor 2A ( CDKN2A )] by FISH and loss of BRCA1‐associated protein 1 (BAP1) by immunohistochemistry will favor mesothelioma . A mesenchymal tumor that could have both spindle and epithelioid differentiation is clear cell sarcoma (also known as melanoma of soft parts).…”

Section: Discussionmentioning

confidence: 95%

“…7 The lack of characteristic molecular alterations, particularly by immunohistochemistry will favor mesothelioma. 40 A mesenchymal tumor that could have both spindle and epithelioid differentiation is clear cell sarcoma (also known as melanoma of soft parts). The presence of immunoreactivity of the tumor cells with melanocytic markers and characteristic molecular alteration t(12;22)(q13;q12) translocation can help support this diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Cytological findings of monophasic synovial sarcoma presenting as a lung mass: report of a case and review of the literature

Dermawan

Policarpio‐Nicolas

2019

Diagnostic Cytopathology

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Synovial sarcomas are rare malignant mesenchymal tumors that can arise from any anatomic site. Although they are often located at the paraarticular region of the extremities, the incidence of synovial sarcomas in the lungs is rare, with only a few cytology case reports to date. We report a case of synovial sarcoma presenting as a lung mass diagnosed on fine‐needle aspiration (FNA) cytology. The patient is a 38‐year‐old chronic smoker who presented with cough, worsening dyspnea, and weight loss. Computerized tomography of his chest revealed an 8‐cm left lower lobe pleural‐based mass. An FNA of the lung mass showed cellular smears composed of monotonous population of singly scattered to sheets of bland spindle cells with elongated nuclei, fine chromatin pattern, and scant to moderate amount of delicate cytoplasm. Immunohistochemical stains performed on the cell block showed that the tumor cells were positive for calretinin and focally positive for pancytokeratin, CAM5.2, and smooth muscle myosin heavy chain. The tumor cells were negative for S‐100, podoplanin, and CD34. Fluorescence in situ hybridization performed on the cell block demonstrated the presence of SYT (18q11) translocation, supporting the diagnosis of synovial sarcoma.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Cytological findings of monophasic synovial sarcoma presenting as a lung mass: report of a case and review of the literature

Dermawan

Policarpio‐Nicolas

2019

Diagnostic Cytopathology

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“…Due to the greater expense and longer turnaround time of p16 FISH, an immunohistochemical alternative has been attempted. However, IHC loss of p16 is not specific for CDKN2A homozygous deletion and there is limited concordance (11,13,37) 100% (11,12) 100% (5,7,11,14) 100% (13,27,29,37,38) between the loss of p16 IHC and homozygous deletion of CDKN2A (7,32). Homozygous deletions of p16 are considered to be relatively specific for MPM, however, point mutations and DNA methylation may occur in benign mesothelial cells.…”

Section: The Fish Assay -Loss Of P16 Mtap and Nf2 Markersmentioning

confidence: 99%

“…Sensitivity and specificity of individual and combined immunohistochemical markers and p16 loss by FISH. − 67.0%(11,13,37) 42.2 − 74.2%(7,11,12) 76.5 − 90.0%(5,7,11,14) 80.0 − 100%(7,13,27,29,37) Specificity 100%…”

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confidence: 99%

The Use of Immunohistochemistry, Fluorescence in situ Hybridization, and Emerging Epigenetic Markers in the Diagnosis of Malignant Pleural Mesothelioma (MPM): A Review

et al. 2020

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Malignant pleural mesothelioma (MPM) is an aggressive asbestos related disease that is generally considered to be difficult to diagnose, stage and treat. The diagnostic process is continuing to evolve and requires highly skilled pathology input, and generally an extensive list of biomarkers for definitive diagnosis. Diagnosis of MPM requires histological evidence of invasion by malignant mesothelial cells often confirmed by various immunohistochemical biomarkers in order to separate it from pleural metastatic carcinoma. Often when invasion of neoplastic mesothelial cells into adjacent tissue is not apparent, further immunohistochemical testing-namely BAP1 and MTAP, as well as FISH testing for loss of p16 (CDKN2A) are used to separate reactive mesothelial proliferation due to benign processes, from MPM. Various combinations of these markers, such as BAP1 and/or MTAP immunohistochemistry alongside FISH testing for loss of p16, have shown excellent sensitivity and specificity in the diagnosis of MPM. Additionally, over the recent years, research into epigenetic marker use in the diagnosis of MPM has gained momentum. Although still in their research stages, various markers in DNA methylation, long non-coding RNA, micro RNA, circular RNA, and histone modifications have all been found to support diagnosis of MPM with generally good sensitivity and specificity. Many of these studies are however, limited by small sample sizes or other study limitations and further research into the area would be beneficial. Epigenetic markers show promise for use in the future to facilitate the diagnosis of MPM.

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“…BAP-1 protein loss in MPM ranges from 56% to 68% (12) and is particularly common in epithelioid tumours rather than sarcomatoid subtypes (13). There are no current reports of BAP-1 protein loss in benign mesothelial proliferations; therefore, it is a useful marker to differentiate benign versus malignant (14,15).…”

Section: Discussionmentioning

confidence: 99%

A challenging diagnosis of malignant mesothelioma with osteosarcomatous differentiation metastasizing to bone

Brown

Jersmann

Crowhurst

et al. 2020

Respirology Case Reports

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Malignant pleural mesothelioma (MPM) is an insidious primary neoplasm of the pleura that can be challenging to diagnose and is commonly considered to be only locally invasive. We present the case of a 74-year-old male who presented with clinical features of MPM but from whom pleural fluid and biopsies initially suggested benign pathology. He later developed diffuse bony metastases and re-examination of pleural biopsies using modern immunohistochemistry and molecular testing revealed a diagnosis of sarcomatoid and desmoplastic MPM with heterologous osteosarcomatous differentiation. This case not only demonstrates the rare potential of skeletal metastasis of MPM, but also highlights the importance of recognizing the utility of modern diagnostic tests and their potential to prevent the need for unnecessary invasive procedures. To our knowledge this is the first description of this rare histological sub-type presenting with skeletal metastases.

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Role of p16 deletion and BAP1 loss in the diagnosis of malignant mesothelioma

Cited by 16 publications

References 43 publications

Cytological findings of monophasic synovial sarcoma presenting as a lung mass: report of a case and review of the literature

Cytological findings of monophasic synovial sarcoma presenting as a lung mass: report of a case and review of the literature

The Use of Immunohistochemistry, Fluorescence in situ Hybridization, and Emerging Epigenetic Markers in the Diagnosis of Malignant Pleural Mesothelioma (MPM): A Review

A challenging diagnosis of malignant mesothelioma with osteosarcomatous differentiation metastasizing to bone

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