REVIEW ARTICLE
Review of prognostic and predictive aspects of mutated TP53 in Wilms’ tumor biology with morphological report and molecular analysis of 37-year-old man’s nephroblastoma
Submission date: 2016-04-05
Final revision date: 2016-06-20
Acceptance date: 2016-07-04
Publication date: 2017-02-10
Pol J Pathol 2016;67(4):307-312
KEYWORDS
TOPICS
ABSTRACT
Here we review prognostic and predictive aspects of mutated TP53 in Wilms’ tumor biology on the basis of the morphological report and molecular analysis of adult nephroblastoma (diffuse blastemal pattern) of a 37-year-old man. Among quite different proteins, TP53 affects expression of several genes such as hypoxia inducible proteins GLUT1 and EPO as well as multidrug resistance (MDR) mediated by P-glycoprotein (Pgp/MDR1) and multidrug-resistant related protein (MRP1), with certain clinical implications. TP53 mutation was found both in our primary tumor (c.746G>T p.R249M frequency 92%) and in nodal metastasis (c.746G>T p.R249M frequency 90%), and the common polymorphism p.P72R in the same gene was revealed with frequency of about 97% in both primary tumor and metastatic disease with appliance of NGS technology (IonTorrent – LifeTechnology) using Ion AmpliSeq Cancer Hotspot Panel v2.
REFERENCES (24)
1.
Huszno J, Starzyczny-Słota D, Jaworska M, et al. Adult Wilms’ tumor - diagnosis and current therapy. Cent European J Urol 2013; 66: 39-44.
2.
Trappe RU, Riess H, Lippek F, et al. Effective use of high-dose chemotherapy and autologous stem cell rescue for relapsed adult Wilms’ tumor and a novel alteration in intron 1 of the WT1 gene. J Pediatr Hematol Oncol 2004; 26: 820-823.
3.
Bellin MF, Maidenberg M, Raveau V, et al. MR imaging of adult Wilms’ tumor: correlation with US, CT, and pathology. Urol Radiol 1990; 12: 148-150.
4.
Babaian RJ, Skinner DG, Waisman J. Wilms’ tumor in the adult patient: diagnosis, management, and review of the world medical literature. Cancer 1980; 45: 1713-1719.
5.
Andrade RC, Cardoso LC, Ferman SE, et al. Association of TP53 polymorphisms on the risk of Wilms’ tumor. Pediatr Blood Cancer 2014; 61: 436-441.
7.
Slevin NJ, McWilliam LJ, Pearson D. Adult nephroblastoma – five cases treated by surgery, radiotherapy and chemotherapy. Clin Radiol 1987; 38: 483-486.
8.
Perrino CM, Wang JF, Chen AC, et al. Adult Wilms’ tumor metastatic to the lung: Endobronchial ultrasound-guided fine needle aspiration biopsy. Diagn Cytopathol 2014; 42: 950-955.
9.
Lin F, Krishnamurthy S. Fine needle aspiration cytology of a skeletal metastasis of adult Wilms’ tumor. A case report. Acta Cytol 2001; 45: 393-398.
10.
Ali EM, Elnashar AT. Adult Wilms’ tumor: review of literature. J Oncol Pharm Pract 2012; 18: 148-151.
11.
Huszno J, Starzyczny-Słota D, Jaworska M, et al. Unfavorable prognosis of nephroblastoma in adults. Cent European J Urol 2013; 66: 45-48.
12.
Hupperets PS, Havenith MG, Blijham GH. Recurrent adult nephroblastoma. Long-term remission after surgery plus adjuvant high-dose chemotherapy, radiation therapy, and allogeneic bone marrow transplantation. Cancer 1992; 69: 2990-2992.
13.
Kattan J, Droz JP, Culine S, et al. Recombinant interferon-alpha efficacy in relapsed adult nephroblastoma: a case report. J Urol 1994; 151: 411-412.
14.
Watanabe S, Naganuma H, Shimizu M, et al. Adult nephroblastoma with predominant epithelial component: a differential diagnostic candidate of papillary renal cell carcinoma and metanephric adenoma-report of three cases. Case Rep Pathol 2013; 2013: 675875.
15.
Taran K, Kobos J, Sporny S. Number of mitotic figures in microscopic picture of nephroblastoma histologic types – estimation of the value of the oldest known prognostic factor. Pol J Pathol 2008; 59: 43-47.
16.
Subbiah V, Brown RE, Jiang Y, et al. Morphoproteomic profiling of the mammalian target of rapamycin (mTOR) signaling pathway in desmoplastic small round cell tumor (EWS/WT1), Ewing’s sarcoma (EWS/FLI1) and Wilms’ tumor (WT1). PLoS One 2013; 8: e68985.
17.
Magro G, Longo FR, Angelico G, et al. Immunohistochemistry as potential diagnostic pitfall in the most common solid tumors of children and adolescents. Acta Histochem 2015; 117: 397-414.
18.
Arnold MA, Schoenfield L, Limketkai BN, et al. Diagnostic pitfalls of differentiating desmoplastic small round cell tumor (DSRCT) from Wilms’ tumor (WT): overlapping morphologic and immunohistochemical features. Am J Surg Pathol 2014; 38: 1220-1226.
19.
Salvatorelli L, Parenti R, Leone G, et al. Wilms’ tumor 1 (WT1) protein: Diagnostic utility in pediatric tumors. Acta Histochem 2015; 117: 367-378.
20.
Rakheja D, Khokhar S, Mitui M, et al. Immunohistochemical expression of GLUT1 and its correlation with unfavorable histology and TP53 codon 72 polymorphism in Wilms’ tumors. Pediatr Dev Pathol 2012; 15: 286-292.
21.
Williams RD, Al-Saadi R, Natrajan R, et al. Molecular profiling reveals frequent gain of MYCN and anaplasia-specific loss of 4q and 14q in Wilms tumor. Genes Chromosomes Cancer 2011; 50: 982-995.
22.
Cost NG, Mitui M, Khokhar S, et al. TP53 codon 72 polymorphisms in favorable histology Wilms tumors. Pediatr Blood Cancer 2012; 59: 326-328.
23.
Popov SD, Vujanic GM, Sebire NJ, et al. Bilateral Wilms’ tumor with TP53-related anaplasia. Pediatr Dev Pathol 2013; 16: 217-223.
24.
Hodorová I, Rybárová S, Vecanová J, et al. Relation between expression pattern of wild-type p53 and multidrug resistance proteins in human nephroblastomas. Acta Histochem 2013; 115: 273-278.
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| eISSN: | 2084-9869 |
| ISSN: | 1233-9687 |
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