A distinctive translocation carcinoma of the kidney; “rosette forming,” t(6;11), HMB45-positive renal tumor: a histomorphologic, immunohistochemical, ultrastructural, and molecular genetic study of 4 cases

Petersson, Fredrik; Vaněček, Tomáš; Michal, Michal; Martignoni, Guido; Brunelli, Matteo; Halbhuber, Z.; Spagnolo, Dominic V.; Yang, Ximing J.; Cabrero, Isabel Alvarado; Hora, Milan; Branžovský, Jindřich; Trivunić, Sandra; Kacerovská, Denisa; Šteiner, Petr; Hes, Ondřej

doi:10.1016/j.humpath.2011.07.001

Cited by 35 publications

(23 citation statements)

References 29 publications

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“…As this tumor generally occurs in children and young adults, urologists and pathologists should take the differential diagnosis of renal tumor arising in children and young adults into consideration [6,7,8,9,10,11,12,13]. As observed in the present study, this tumor may occur even at the age over 40 years [14,15,16,17,18,19,20]. In some cases, previous cytotoxic chemotherapy may be involved in the pathogenesis of this tumor [8].…”

Section: Discussionmentioning

confidence: 50%

“…This tumor shows overexpression of TFEB protein because of the formation of the Alpha-TFEB chimeric transcript caused by chromosomal translocation between 6p21 and 11q12, and nuclear expression of TFEB is a highly sensitive and specific diagnostic marker [7]. The combined immunohistochemical stainings for cathepsin K, melanosome-related antigen (clone HMB45) and melan A seem to be an adjunctive diagnostic tool in identification of RCC with t(6;11)(p21;q12) [4,6,7,11,13,15,16,18,19,20,21,22,23,24,27,28]. The break-apart FISH study for the TFEB gene seems to be an excellent measure for the definite diagnosis because the fusion partner for the TFEB gene is limited to the Alpha (MALAT) gene [17,20,23,28,29].…”

Section: Discussionmentioning

confidence: 99%

“…This fact essentially seems to differ from that of Xp11.2/TFE3 translocation-associated RCC having several fusion partners [1,2,3,4,5,21,30]. Cytogenetics and RT-PCR analyses are also available for the detection of this tumor [6,7,14,16,18,31]. The prognosis seems to be generally excellent [10,11,18,27,30] with several exceptions.…”

Section: Discussionmentioning

confidence: 99%

“…Cytogenetics and RT-PCR analyses are also available for the detection of this tumor [6,7,14,16,18,31]. The prognosis seems to be generally excellent [10,11,18,27,30] with several exceptions. Some tumors did cause recurrence, metastasis or a dismal outcome, particularly in adult cases [15,16,25].…”

Section: Discussionmentioning

confidence: 99%

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Clinicopathological study of 5 cases of renal cell carcinoma with t(6;11)(p21;q12)

Yorita

Sasaki

Ishihara

et al. 2017

pjp

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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.

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Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Clinicopathological study of 5 cases of renal cell carcinoma with t(6;11)(p21;q12)

Yorita

Sasaki

Ishihara

et al. 2017

pjp

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“…[1] The unique histologic appearance of these tumors was first characterized as including large cells with clear or eosinophilic cytoplasm and a second population of smaller cells with scant cytoplasm arranged around hyaline basement membrane material, resembling rosettes. [1,2] More recently, however, other studies have found that this unique morphology is not always straightforward, and that some molecularly-confirmed TFEB rearrangement tumors may mimic clear cell renal cell carcinoma, chromophobe renal cell carcinoma, tubulocystic renal cell carcinoma, epithelioid angiomyolipoma, multilocular cystic renal cell carcinoma, or high-grade unclassified renal cell carcinoma. [3][4][5][6] One recent series included a single example that was extensively hyalinized and ossified.…”

Section: Introductionmentioning

confidence: 99%

Sclerosing TFEB -rearrangement renal cell carcinoma: a recurring histologic pattern

2017

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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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A distinctive translocation carcinoma of the kidney; “rosette forming,” t(6;11), HMB45-positive renal tumor: a histomorphologic, immunohistochemical, ultrastructural, and molecular genetic study of 4 cases

Cited by 35 publications

References 29 publications

Clinicopathological study of 5 cases of renal cell carcinoma with t(6;11)(p21;q12)

Clinicopathological study of 5 cases of renal cell carcinoma with t(6;11)(p21;q12)

Sclerosing TFEB -rearrangement renal cell carcinoma: a recurring histologic pattern

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

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