A distinctive translocation carcinoma of the kidney [“rosette-like forming,” t(6;11), HMB45-positive renal tumor]

Hora, Milan; Hes, Ondřej; Ürge, Tomáš; Eret, Viktor; Klečka, Jiří; Michal, Michal

doi:10.1007/s11255-008-9495-8

Cited by 18 publications

(16 citation statements)

References 8 publications

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“…These ten cases are presented in detail. Five cases have previously been published Hora et al 2008; Hora et al 2009. Extended follow-up information is provided for these cases in this paper.…”

Section: Methodsmentioning

confidence: 84%

“…Extended follow-up information is provided for these cases in this paper. These cases are: two TRCC Xp.11 (in Table 2 cases 2 and 5) Hora et al 2008 and three TFEB TRCC (in Table 2 cases 1, 3, 4) Hora et al 2009. The morphological diagnosis was supported by immunohistochemical examination.…”

Section: Methodsmentioning

confidence: 94%

“…Owing to the characteristic histopathological features and imunohistochemical properties of this tumour, it has been termed “osette-like forming, HMB45-positive renal tumour” Hora et al 2009. An alternative designation/term that is used is “TFEB RCC”.…”

Section: Discussionmentioning

confidence: 99%

“…Genetically, TFEB RCC has been characterized by the fusion of the 5’ portion of Alpha , also known as MALATI (Genbank accession number AF203815), an intronless gene mapped at 11q12, with TFEB at 6p21 Inamura et al 2012; Rao et al 2012 with fewer than 30 cases reported to date Hora et al 2009; Inamura et al 2012; Rao et al 2012; Camparo et al 2008; Suarez-Vilela et al 2011. First 11 cases were reviewed by Hora et al 2009, cases published since 2007 are summarised in Table 1. The morphology of TFEB TRCC is distinctive and the diagnosis can be established based on a combination of histopathological examination in conjunction with immunohistochemistry.…”

Section: Discussionmentioning

confidence: 99%

“…The morphology of TFEB TRCC is distinctive and the diagnosis can be established based on a combination of histopathological examination in conjunction with immunohistochemistry. Role of molecular genetic studies is not as crucial as in Xp11.2 TRCC Hora et al 2009. The malignant potential is low.…”

Section: Discussionmentioning

confidence: 99%

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MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

et al. 2014

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IntroductionMiT translocation renal cell carcinomas (TRCC) predominantly occur in younger patients with only 25% of patients being over 40 years. TRCC contains two main subgroups with translocations involving 6p21 or Xp11.2. Herein we present 10 cases.MaterialsEight cases were treated at main author’s institution (identified among 1653 (0.48%) cases of kidney tumours in adults). Two cases were retrieved from the Pilsen (CZ) Tumour Registry.ResultsSix cases were type Xp11.2 and four 6p21; 7 female, 3 male patients; Xp11.2 4:2, 6p21 3:1. The mean age 49 years (range: 21–80), 5 patients (50%) over 40 years. The mean age of the group with Xp11.2 TRCCs was 55 (median 51) and 6p21 41 (32) years. One female with a 6p21 tumour (24 years) underwent nephrectomy at 4 months of pregnancy. Stage (UICC, 7th ed. 2009) was 5xI, 3xIII, 2xIV. The mean size of tumour was 80 (40–165) mm. The mean follow-up was 33.2 (1–92) months. In patients with 6p21 tumours, one (25%) died after 3 months due to widely metastatic disease. In patients with Xp11.2 tumours, 3 (50%) succumbed due to metastatic disease (range 1–8 months). Three patients with Xp11.2 are alive at 7, 52 and 92 months of follow-up, were diagnosed at early stage (T1a).ConclusionTRCCs were more common in females. Patient with 6p21 tumours were younger than those with Xp11.2. Both types have definitive malignant potential Type Xp11.2 seems to be a more aggressive neoplasm than 6p21. The case with metastatic 6p21 tumour is the 4th case described in the English literature.

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Section: Methodsmentioning

confidence: 84%

Section: Methodsmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

et al. 2014

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Comprehensive study of three novel cases of TFEB‐amplified renal cell carcinoma and review of the literature: Evidence for a specific entity with poor outcome

Mendel

Ambrosetti

Bodokh

et al. 2017

Genes Chromosomes & Cancer

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The first case of TFEB-amplified renal cell carcinoma was published in 2014. Since then, 29 additional cases have been described. The prognostic and therapeutic implications of this rare entity remain to be determined. We describe here the clinical, histological, and genetic features of three novel cases, and the first complete literature review. Four tumors were examined from three patients selected from the large collection of genetically characterized renal tumors in our institution. The pathological and immunohistochemical features were centrally reviewed by a uropathologist. Quantitative and structural genomic abnormalities were analyzed using comparative genomic hybridization, fluorescence in situ hybridization, and next generation sequencing. The three cases showed high-level amplification but no translocation of TFEB. Histologically, two tumors showed a papillary or pseudopapillary architecture. They did not show similarities with renal cell carcinoma harboring translocation of TFEB. The tumors were locally advanced high-grade lesions. They exhibited a metastatic course, which was rapidly leading to death in one patient. A second patient developed metastatic disease that did not respond to four lines of targeted treatments. The third patient had a protracted history of pulmonary and cardiac metastases. Complete clinical and biological data were examined and compared to those of the reported cases. Within the classification of renal tumors, TFEB-amplified renal cell carcinoma may constitute a novel entity characterized histologically by high-grade, papillary or pseudopapillary architecture, and necrotic remodeling and clinically by a poor outcome. Its pathogenesis has to be further characterized to develop appropriate targeted therapy.

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Translocation-Associated Carcinoma

2016

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A distinctive translocation carcinoma of the kidney [“rosette-like forming,” t(6;11), HMB45-positive renal tumor]

Abstract: This tumor is a distinctive and rare translocation carcinoma of the kidney [t(6;11), HMB45 positive]. All cases with known clinical data arose in younger people. The malignant potential is probably low.

Cited by 18 publications

References 8 publications

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

Comprehensive study of three novel cases of TFEB‐amplified renal cell carcinoma and review of the literature: Evidence for a specific entity with poor outcome

Translocation-Associated Carcinoma

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