Loss of expression of BAP1 is very rare in non-small cell lung carcinoma

Pathology

Volumn 48, Issue 4, 2016, Pages 336-340

  Andrici, Juliana ^a,b   Parkhill, Thomas R ^a   Jung, Jason ^a   Wardell, Kathryn L ^a   Verdonk, Brandon ^a   Singh, Arjun ^a   Sioson, Loretta ^b   Clarkson, Adele ^b,c   Watson, Nicole ^b   Sheen, Amy ^b   Farzin, Mahtab ^b   Toon, Christopher W ^a,b,d   Gill, Anthony J ^a,b,c  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ROYAL NORTH SHORE HOSPITAL   (Australia)

^d Histopath   (Australia)

Author keywords

BAP1; BRCA1 associated protein 1; Lung cancer

Indexed keywords

BAP1 PROTEIN; BEREP4 PROTEIN; CALRETININ; CYTOKERATIN 5; CYTOKERATIN 6; NAPSIN A; PROTEIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; BAP1 PROTEIN, HUMAN; UBIQUITIN THIOLESTERASE;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LUNG ADENOCARCINOMA; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NON SMALL CELL LUNG CANCER; PROTEIN DEPLETION; PROTEIN EXPRESSION; SQUAMOUS CELL LUNG CARCINOMA; TISSUE MICROARRAY; ADENOCARCINOMA; FACTUAL DATABASE; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; LUNG TUMOR; METABOLISM; PATHOLOGY; SQUAMOUS CELL CARCINOMA; VERY ELDERLY;

ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, SQUAMOUS CELL; DATABASES, FACTUAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE;

EID: 84978655870     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.1016/j.pathol.2016.03.005     Document Type: Article

References (47)

1. 1 Torre, L.A., Bray, F., Siegel, R.L., Ferlay, J., Lortet-Tieulent, J., Jemal, A., Global cancer statistics, 2012. CA Cancer J Clin 65 (2015), 87–108.
2. 2 Siegel, R.L., Miller, K.D., Jemal, A., Cancer statistics, 2015. CA Cancer J Clin 65 (2015), 5–29.
3. 3 Alberg, A.J., Brock, M.V., Ford, J.G., Samet, J.M., Spivack, S.D., Epidemiology of lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines. Chest 143 (2013), e1S–e29.
4. 4 Turati, F., Negri, E., Vecchia, C.L., Family history and the risk of cancer: genetic factors influencing multiple cancer sites. Exp Rev Anticancer Ther 14 (2014), 1–4.
5. 5 Lissowska, J., Foretova, L., Dąbek, J., et al. Family history and lung cancer risk: international multicentre case–control study in Eastern and Central Europe and meta-analyses. Cancer Causes Control 21 (2010), 1091–1104.
6. 6 Coté, M.L., Liu, M., Bonassi, S., et al. Increased risk of lung cancer in individuals with a family history of the disease: a pooled analysis from the International Lung Cancer Consortium. Eur J Cancer 48 (2012), 1957–1968.
7. 7 Chen, Z., Li, Z., Niu, X., et al. The effect of CYP1A1 polymorphisms on the risk of lung cancer: a global meta-analysis based on 71 case–control studies. Mutagenesis 26 (2011), 437–446.
8. 8 Osann, K.E., Epidemiology of lung cancer. Curr Opin Pulm Med 4 (1998), 198–204.
9. 9 Murali, R., Wiesner, T., Scolyer, R.A., Tumours associated with BAP1 mutations. Pathology 45 (2013), 116–126.
10. 10 Battaglia, A., The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: clinical management and risk assessment. Clin Med Insights Oncol, 8, 2014, 37.
11. 11 Ventii, K.H., Devi, N.S., Friedrich, K.L., et al. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res 68 (2008), 6953–6962.
12. 12 Nasu, M., Emi, M., Pastorino, S., et al. High incidence of somatic BAP1 alterations in sporadic malignant mesothelioma. J Thorac Oncol 10 (2015), 565–576.
13. 13 Farzin, M., Toon, C.W., Clarkson, A., et al. Loss of expression of BAP1 predicts longer survival in mesothelioma. Pathology 47 (2015), 302–307.
14. 14 Andrici, J., Goeppert, B., Sioson, L., et al. Loss of BAP1 expression occurs frequently in intrahepatic cholangiocarcinoma. Medicine, 95, 2016, e2491.
15. 15 Chan-on, W., Nairismagi, M.-L., Ong, C.K., et al. Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. Nat Genet 45 (2013), 1474–1478.
16. 16 Brugarolas, J., Molecular genetics of clear-cell renal cell carcinoma. J Clin Oncol 32 (2014), 1968–1976.
17. 17 Harbour, J.W., Onken, M.D., Roberson, E.D.O., et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330 (2010), 1410–1413.
18. 18 Wiesner, T., Obenauf, A.C., Murali, R., et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 43 (2011), 1018–1021.
19. 19 Andrici, J., Jung, J., Sheen, A., et al. Loss of BAP1 expression is very rare in peritoneal and gynaecological serous adenocarcinomas and can be useful in the differential diagnosis with abdominal mesothelioma. Hum Pathol 51 (2016), 9–15.
20. 20 Tayao, M.A.J., Farzin, M., Clarkson, A., et al. Loss of BAP1 expression is very rare in pancreatic ductal adenocarcinoma. PLoS One, 11, 2016, e0150338.
21. 21 Zabarovsky, E.R., Lerman, M.I., Minna, J.D., Tumor suppressor genes on chromosome 3p involved in the pathogenesis of lung and other cancers. Oncogene 21 (2002), 6915–6935.
22. 22 Angeloni, D., Molecular analysis of deletions in human chromosome 3p21 and the role of resident cancer genes in disease. Brief Funct Genomic Proteomic 6 (2007), 19–39.
23. 23 Belinsky, S.A., Unmasking the lung cancer epigenome. Ann Rev Physiol 77 (2015), 453–474.
24. 24 Dehan, E., Ben-Dor, A., Liao, W., et al. Chromosomal aberrations and gene expression profiles in non-small cell lung cancer. Lung Cancer 56 (2007), 175–184.
25. 25 Lerman, M.I., Minna, J.D., The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. Cancer Res 60 (2000), 6116–6133.
26. 26 de la Fouchardière, A., Cabaret, O., Savin, L., et al. Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clin Genet 88 (2015), 273–277.
27. 27 Abdel-Rahman, M.H., Pilarski, R., Cebulla, C.M., et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 48 (2011), 856–859.
28. 28 Aoude, L.G., Wadt, K., Bojesen, A., et al. A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers. PLoS One, 8, 2013, e72144.
29. 29 Popova, T., Hebert, L., Jacquemin, V., et al. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Human Genet 92 (2013), 974–980.
30. 30 Houang, M., Toon, C.W., Clarkson, A., et al. ALK and ROS1 overexpression is very rare in colorectal adenocarcinoma. Appl Immunohistochem Mol Morphol 23 (2015), 134–138.
31. 31 Westaway, D.D., Toon, C.W., Farzin, M., et al. The International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society grading system has limited prognostic significance in advanced resected pulmonary adenocarcinoma. Pathology 45 (2013), 553–558.
32. 32 Houang, M., Sioson, L., Clarkson, A., et al. EGFR mutation specific immunohistochemistry is a useful adjunct which helps to identify false negative mutation testing in lung cancer. Pathology 46 (2014), 501–508.
33. 33 Houang, M., Toon, C.W., Clarkson, A., et al. Reflex ALK immunohistochemistry is feasible and highly specific for ALK gene rearrangements in lung cancer. Pathology 46 (2014), 383–388.
34. 34 Travis, W.D.B.E., Burke, A.P., Marx, A., Nicholson, A.G., WHO Classification of Tumours of the Lung, Pleura, Thymus and Heart. 2015, IARC, Lyon.
35. 35 Travis, W.D., Brambilla, E., Noguchi, M., et al. International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society: international multidisciplinary classification of lung adenocarcinoma: executive summary. Proc Am Thorac Soc 8 (2011), 381–385.
36. 36 Rusch, V., Appelman, H., Blackstone, E., et al. AJCC Cancer Staging Manual. 7th edition, 2009, American Joint Committee on Cancer, Springer, Chicago.
37. 37 COSMIC: Catalogue of Somatic Mutations in Cancer. Cited 20 Jan 2016. http://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=BAP1.
38. 38 Andrici, J., Sheen, A., Sioson, L., et al. Loss of expression of BAP1 is a useful adjunct, which strongly supports the diagnosis of mesothelioma in effusion cytology. Mod Pathol 28 (2015), 1360–1368.
39. 39 Testa, J.R., Cheung, M., Pei, J., et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 43 (2011), 1022–1025.
40. 40 Wadt, K., Choi, J., Chung, J.Y., et al. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res 25 (2012), 815–818.
41. 41 Wiesner, T., Murali, R., Fried, I., et al. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am J Surg Pathol, 36, 2012, 818.
42. 42 Peña-Llopis, S., Vega-Rubín-de-Celis, S., Liao, A., et al. BAP1 loss defines a new class of renal cell carcinoma. Nat Genet 44 (2012), 751–759.
43. 43 Njauw, C.-N.J., Kim, I., Piris, A., et al. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS One, 7, 2012, e35295.
44. 44 Hwang, H.C., Sheffield, B.S., Rodriguez, S., et al. Utility of BAP1 immunohistochemistry and p16 (CDKN2A) FISH in the diagnosis of malignant mesothelioma in effusion cytology specimens. Am J Surg Pathol 40 (2016), 120–126.
45. 45 Churg, A., Sheffield, B.S., Galateau-Salle, F., New markers for separating benign from malignant mesothelial proliferations: are we there yet?. Arch Pathol Lab Med 140 (2016), 318–321.
46. 46 Sheffield, B.S., Hwang, H.C., Lee, A.F., et al. BAP1 immunohistochemistry and p16 FISH to separate benign from malignant mesothelial proliferations. Am J Surg Pathol 39 (2015), 977–982.
47. 47 McGregor, S.M., Dunning, R., Hyjek, E., Vigneswaran, W., Husain, A.N., Krausz, T., BAP1 facilitates diagnostic objectivity, classification, and prognostication in malignant pleural mesothelioma. Hum Pathol 46 (2015), 1670–1678.