ORIGINAL ARTICLE
Clinicopathological study of 5 cases of renal cell carcinoma with t(6;11)(p21;q12)
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Submission date: 2016-10-20
Final revision date: 2016-12-06
Acceptance date: 2016-12-15
Publication date: 2017-05-23
Pol J Pathol 2017;68(1):66-72
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ABSTRACT
Renal cell carcinoma (RCC) with t(6;11)(p21;q12) has been incorporated into the recent WHO classification. We performed a clinicopathological study of 5 cases with such a tumor. The patients consisted of 4 males and 1 female. The age of patients ranged from 17 to 57 years with a mean age of 38.6 years. Tumor sizes ranged from 2.8 to 11 cm with a mean value of 6.5 cm. Despite immunotherapy and molecular-targeted therapy, one patient died of the disease 28 months after the surgery. Grossly, the cut surface of this tumor showed grayish white color in at least the focal area of all tumors. Furthermore, hemorrhage, daughter nodules and cystic changes were observed in two, three, and two tumors, respectively. Morphologically, all the tumors consisted of two components of large cells and small cells, and the latter surrounded basement membrane-like materials, forming rosette-like structures. Immunohistochemically, nuclei of tumor cells in all cases were positive for TFEB. Fluorescence in situ hybridization study confirmed the TFEB gene break in two tumors. Finally, urologists and pathologists should bear in mind that this tumor may occur in young adults to adults and might behave in an aggressive fashion. Break-apart FISH is useful for the definite diagnosis.
REFERENCES (33)
1.
Argani P, Ladanyi M. Distinctive neoplasms characterized by specific chromosomal translocations comprise a significant proportion of paediatric renal cell carcinomas. Pathology 2003; 35:492-498.
2.
Argani P, Ladanyi M. Translocation carcinomas of the kidney. Clin Lab Med 2005; 25: 363-378.
3.
Argani P, Ladanyi M. The evolving story of renal translocation carcinomas. Am J Clin Pathol 2006; 126: 332-334.
4.
Argani P. MiT family translocation renal cell carcinoma. Semin Diagn Pathol 2015; 32: 103-113.
5.
Argani P, Cheville J, Ladanyi M. MiT family translocation renal cell carcinomas. In: Moch H, Humphrey PA, Ulbright TM, et al. World Health Organization of Tumours of the Urinary System and Male Genital Organs. IRAC press, Lyon 2016; 33-34.
6.
Argani P, Hawkins A, Griffin CA, et al. A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21,1;q12) chromosome translocation. Am J Pathol 2001; 158: 2089-2096.
7.
Argani P, Yonescu R, Morsberger L, et al. Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma inn archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrum. Am J Surg Pathol 2012; 36: 1516-1526.
8.
Argani P, Laé M, Bellard ET, et al. Translocation carcinomas of the kidney after chemotherapy in childhood. J Clin Oncol 2006; 24: 1529-1534.
9.
Medendrop K, van Groningen JJM, Schepend M, et al. Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas. Cytogenet Genome Res 2007; 118: 157-165.
10.
Hora M, Hes O, Ürge T, et al. A distinctive translocation carcinoma of the kidney [“rosette-like forming,” t(6;11), HMB-positive renal tumor]. Int Urol Nephrol 2009; 41: 553-557.
11.
Zhan HQ, Wang CF, Zhu XZ, et al. Renal cell carcinoma with t(6;11) translocation: A patient case with a novel Alpha-TFEB fusion point. J Clin Oncol 2010; 28: e709-e713.
12.
Zhoung M, De Angelo P, Osborne L, et al. Translocation renal cell carcinomas in adults: A single-institution experience. Am J Surg Pathol 2012; 36: 654-662.
13.
Arneja SK, Gujar N. Renal cell carcinoma with t(6;11)(p21;q12). A case report highlighting distinctive immunohistologic features of this rare tumor. Int J Surg Case Rep 2015; 7: 16-19.
14.
Pecciarini L, Cangi MG, Lo Cunsolo C, et al. Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma in an adult patient. Genes Chromosom Cancer 2007; 46: 419-426.
15.
Ishihara A, Yamashita Y, Takamori H, et al. Renal carcinoma with t(6;11)(p21;q12) translocation: report of an adult case. Pathol Int 2011; 61: 539-545.
16.
Inamura K, Fujisawa M, Togashi Y, et al. Diverse fusion patterns and heterogenous clinicopathologic features of renal cell carcinoma with t(6;11) translocation. Am J Surg Pathol 2012; 36: 35-42.
17.
Argani P, Laé M, Hutchinson B, Reuter VE, et al. Renal carcinomas with the t(6;11)(p21;q12). Clinicopathologic features and demonstration of the specific Alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR. Am J Surg Pathol 2005; 29: 230-240.
18.
Petersson F, Vaneˇcˇek T, Michal M, et al. A distinctive translocation carcinoma of the kidney: “rosette forming,” t(6;11), HMB45-positive renal tumor: a histomorhologic, immunohistochemical, ultrastructural, and molecular genetic study of 4 cases. Hum Pathol 2012; 43: 726-736.
19.
Matsuura K, Inoue T, Kai T, et al. Molecular analysis of a case of renal cell carcinoma with t(6;11)(p21;q12) reveals a link to a lysosome-like structure. Histopathology 2014; 64: 306-309.
20.
Rao Q, Zhang XM, Tu P, et al. Renal cell carcinomas with t(6;11)(p21;q12) presenting with tubulocystic renal cell carcinoma-like features. Int J Clin Exp Pathol 2013; 6: 1452-1457.
21.
Kuroda N, Tanaka A, Sasaki N, et al. Review of renal carcinoma with t(6;11)(p21;q12) with focus on clinical and pathobiological aspects. Histol Histopathol 2013; 28: 685-690.
22.
Kuroda N, Tanaka A, Ohe C, et al. Recent advances of immunohistochemistry of diagnosis of renal tumors. Pathol Int 2013; 63: 381-390.
23.
Kryvenko ON, Jorda M, Argani P, et al. Diagnostic approach to eosinophilic renal neoplasms. Arch Pathol Lab Med 2014; 138: 1531-1541.
24.
Kuroda N, Tanaka A. Recent classification of renal epithelial tumors. Med Mol Morphol 2014; 47: 68-75.
25.
Camparo P, Vasiliu V, Molinie V, et al. Renal translocation carcinomas. Clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. Am J Surg Pathol 2008; 35: 656-670.
26.
Kuroda N, Mikami S, Pan CC, et al. Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on clinical and pathobiological aspects. Histol Histopathol 2012; 27: 133-140.
27.
Martignoni G, Pea M, Gobbo S, et al. Cathepsin-K immunoreactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas. Mod Pathol 2009; 22: 1016-1022.
28.
Rao Q, Liu B, Cheng L, et al. Renal cell carcinomas with t(6;11)(p21;q12). A clinicopathologic study emphasizing unusual morphology, novel Alpha-TFEB gene fusion point, immunobiomarkers, and ultrastructural features, as well as detection of the gene fusion by fluorescence in situ hybridization. Am J Surg Pathol 2012; 36: 1327-1338.
29.
Smith NE, Illei PB, Allaf M, et al. t(6;11) renal cell carcinoma (RCC) expanded immunohistochemical profile emphasizing novel RCC markers and report of 10 new genetically confirmed cases. Am J Surg Pathol 2014; 38: 604-614.
30.
Geller JL, Argani P, Adeniran A, et al. Translocation renal cell carcinoma. lack of negative impact due to lymph node spread. Cancer 2008; 112: 1607-1616.
31.
Malouf GG, Camparo P, Molinié V, et al. Translocation factor E3 and translocation factor EB renal cell carcinomas: clinical features, biological behavior and prognostic factors. J Urol 2011; 185: 24-29.
32.
Ferician O, Cimpean AM, Ceausu AR, et al. Heterogenous vascular patterns in renal cell carcinoma. Pol J Pathol 2016; 67: 46-53.
33.
Zhao JJ, Chen PJ, Duan RQ, et al. miR-630 as a tumor oncogene in renal cell carcinoma. Arch Med Sci 2016; 12: 473-478.