CASE REPORT
Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis
1
Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland
2
Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland
3
Department of Urology, Saint Raphael Voivodship Specialist Hospital, Checiny, Poland
4
Department of Pathology, Holy Cross Oncology Centre, Kielce, Poland
5
Department of General Pathomorphology, Medical University of Bialystok, Bialystok, Poland
6
Department of Clinical Oncology, Holy Cross Oncology Centre, Kielce, Poland
7
Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland
Publication date: 2020-05-20
Pol J Pathol 2020;71(1):69-74
KEYWORDS
ABSTRACT
Molecular next gene sequencing was used to evaluate mutations in 409 common mutated cancer-related genes in malignant mesothelioma of tunica vaginalis testis (MMTVT) of 81-year-old man. Multifocal papillary-solid areas contained necrosis among highly cellular fields with multiple mitoses. It was positive for WT1, CKAE1/AE3, calretinin, CK7 with negativity for CK5, PSA, TTF-1. Following mutations were revealed in PARP1 (NM_001618: c.2285TG, p.K135R), MTRR (NM_024010: c.147A>G, p.I49M) and two sorts of mutations in structure of KMT2C gene (NM_170606: c.2447_2448insA (c.2447dupA), p.Y816fs and NM_170606: c.1042G>A, p.D348N) for the first time in MMTVT.
REFERENCES (41)
1.
Shimada S, Ono K, Suzuki Y, Mori N. Malignant mesothelioma of the tunica vaginalis testis: a case with a predominant sarcomatous component. Pathol Int 2004; 54: 930-934.
2.
Trenti E, Palermo SM, D’Elia C, et al. Malignant mesothelioma of tunica vaginalis testis: Report of a very rare case with review of the literature. Arch Ital Urol Androl 2018; 90: 212-214.
3.
Mezei G, Chang ET, Mowat FS, Moolgavkar SH. Epidemiology of mesothelioma of the pericardium and tunica vaginalis testis. Ann Epidemiol 2017; 27: 348-359.e11.
4.
Baqui AA, Boire NA, Baqui TT, Etwaru DJ. Malignant Mesothelioma of the Tunica Vaginalis Testis-A Malignancy Associated With Asbestos Exposure and Trauma: A Case Report and Literature Review. J Investig Med High Impact Case Rep 2019; 7: 2324709619827335.
5.
Attanoos RL, Gibbs AR. Primary malignant gonadal mesotheliomas and asbestos. Histopathology 2000; 37:150-159.
6.
Chekol SS, Sun CC. Malignant mesothelioma of the tunica vaginalis testis: diagnostic studies and differential diagnosis. Arch Pathol Lab Med 2012; 136:113-117.
7.
Recabal P, Rosenzweig B, Bazzi WM, et al. Malignant Mesothelioma of the Tunica Vaginalis Testis: Outcomes Following Surgical Management Beyond Radical Orchiectomy. Urology 2017; 107: 166-170.
8.
Zhang S, Zhang Q, Sun Q, et al. Genome Evolution Analysis of Recurrent Testicular Malignant Mesothelioma by Whole-Genome Sequencing. Cell Physiol Biochem 2018; 45: 163-174.
9.
Brierley JD, Gospodarowicz MK, Wittekind C. TNM Classification of Malignant Tumours. 8th Edition. Wiley-Blackwell 2017; 1-272.
10.
Brimo F, Illei PB, Epstein JI. Mesothelioma of the tunica vaginalis: a series of eight cases with uncertain malignant potential. Mod Pathol 2010; 23: 1165-1172.
11.
Yu H, Ma H, Yin M, et al. Association between PARP-1 V762A polymorphism and cancer susceptibility: a meta-analysis. Genet Epidemiol 2012; 36: 56-65.
12.
Qin Q, Lu J, Zhu H, et al. PARP-1 Val762Ala polymorphism and risk of cancer: a meta-analysis based on 39 case-control studies. PLoS One 2014; 9:e98022.
13.
Roszak A, Lianeri M, Sowiñska A, et al. Involvement of PARP-1 Val762Ala polymorphism in the onset of cervical cancer in caucasian women. Mol Diagn Ther 2013; 17: 239-245.
14.
Srinivasan G, Sidhu GS, Williamson EA, et al. Synthetic lethality in malignant pleural mesothelioma with PARP1 inhibition. Cancer Chemother Pharmacol 2017; 80: 861-867.
15.
Zhang Q, Liu Y, Zhang D, et al. RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance. J Neurosurg 2017; 126: 1106-1113.
17.
Zhang K, Zhang M, Zhu J, et al. Screening of gene mutations associated with bone metastasis in nonsmall cell lung cancer. J Cancer Res Ther 2016; 12: C186-C190.
18.
Cavuoto P, Fenech MF. A review of methionine dependency and the role of methionine restriction in cancer growth control and life-span extension. Cancer Treat Rev 2012; 38: 726-736.
19.
Chaturvedi S, Hoffman RM, Bertino JR. Exploiting methionine restriction for cancer treatment. Biochem Pharmacol 2018; 154: 170-173.
20.
Yap TA, Aerts JG, Popat S, et al. Novel insights into mesothelioma biology and implications for therapy. Nat Rev Cancer 2017; 17: 475-488.
21.
Xiang L, Kong B. PAX8 is a novel marker for differentiating between various types of tumor, particularly ovarian epithelial carcinomas. Oncol Lett 2013; 5: 735-738.
22.
Laury AR, Hornick JL, Perets R, et al. PAX8 reliably distinguishes ovarian serous tumors from malignant mesothelioma. Am J Surg Pathol 2010; 34: 627-35.
23.
Kouzarides T. Chromatin modifications and their function. Cell 2007; 128: 693-705.
24.
Watanabe Y, Castoro RJ, Kim HS, et al. Frequent alteration of MLL3 frameshift mutations in microsatellite deficient colorectal cancer. PLoS One 2011; 6: e23320.
25.
Wang L, Zhao Z, Ozark PA, et al. Resetting the epigenetic balance of Polycomb and COMPASS function at enhancers for cancer therapy. Nat Med 2018; 24: 758-769.
26.
Lu YW, Zhang HF, Liang R, et al. Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing. PLoS One 2016; 11: e0152673.
27.
Ji S, Yang W, Liu J, et al. High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors. Pancreatology 2018; 18: 318-327.
28.
Witkiewicz AK, McMillan EA, Balaji U, et al. Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets. Nat Commun 2015; 6: 6744.
29.
Shankar GM, Lelic N, Gill CM, et al. BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology. Acta Neuropathol 2016; 131: 147-150.
30.
Shankar GM, Taylor-Weiner A, Lelic N, et al. Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. Acta Neuropathol Commun 2014; 2: 167.
31.
Hylebos M, Van Camp G, van Meerbeeck JP, et al. The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing. J Thorac Oncol 2016; 11: 1615-1626.
32.
Kim JE, Kim D, Hong YS, et al. Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS. Transl Oncol 2018; 11: 268-274.
33.
Ito T, Hamasaki M, Matsumoto S, et al. p16/CDKN2A FISH in Differentiation of Diffuse Malignant Peritoneal Mesothelioma From Mesothelial Hyperplasia and Epithelial Ovarian Cancer. Am J Clin Pathol 2015; 143: 830-838.
34.
Chekol SS, Sun CC. Malignant mesothelioma of the tunica vaginalis testis: diagnostic studies and differential diagnosis. Arch Pathol Lab Med 2012; 136: 113-117.
35.
Trpkov K, Barr R, Kulaga A, el al. Mesothelioma of tunica vaginalis of uncertain malignant potential – an evolving concept: case report and review of the literature. Diagn Pathol 2011; 6: 78.
36.
Smith-Hannah A, Naous R. Primary peritoneal Epithelioid mesothelioma of clear cell type with a novel VHL gene mutation: a case report. Hum Pathol 2019; 83: 199-203.
37.
Inaguma S, Lasota J, Wang Z, et al. Expression of ALCAM (CD166) and PD-L1 (CD274) independently predicts shorter survival in malignant pleural mesothelioma. Hum Pathol 2018; 71: 1-7.
38.
Abello A, Steinkeler J, Das AK. A Bilateral Metachronous Mesothelioma of the Tunica Vaginalis. Urology 2018; 120: e1-e2.
39.
Domaga³a P, Hybiak J, Sul¿yc-Bielicka V, et al. KRAS mutation testing in colorectal cancer as an example of the pathologist's role in personalized targeted therapy: a practical approach. Pol J Pathol 2012; 63: 145-164.
40.
Wójcik P, Okoñ K, Osuch C, et al. BRAF mutations in sporadic colorectal carcinoma from polish patients. Pol J Pathol 2010; 61: 23-26.
41.
Lasota J, Kowalik A, Wasag B, et al. Detection of the BRAF V600E mutation in colon carcinoma: critical evaluation of the imunohistochemical approach. Am J Surg Pathol 2014; 38: 1235-1241.
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| ISSN: | 1233-9687 |
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