Renal Cell Carcinoma With t(6;11) Translocation: A Patient Case With a Novel <i>Alpha-TFEB</i> Fusion Point

Zhan, Heqin; Wang, Chao‐Fu; Zhu, Xiong-Zeng; Xu, Xiaoli

doi:10.1200/jco.2010.30.3172

Cited by 23 publications

(27 citation statements)

References 9 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].…”

Section: Discussionsupporting

confidence: 51%

“…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%

“…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: Discussionsupporting

confidence: 51%

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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“…In fact, we know of 2 cases published in the literature in which a t(6;11) RCC was initially mistaken for a renal PEComa. 12,22 In addition, Antic et al 33 have reported in abstract form that PEComas express TFEB by IHC, although this has not been our experience. TFEB FISH analysis can resolve this differential diagnosis, as we have shown herein that PEComas are negative for TFEB gene rearrangement.…”

Section: Discussionmentioning

confidence: 76%

Molecular Confirmation of t(6;11)(p21;q12) Renal Cell Carcinoma in Archival Paraffin-embedded Material Using a Break-apart TFEB FISH Assay Expands its Clinicopathologic Spectrum

Argani

Yonescu²,

Morsberger³

et al. 2012

American Journal of Surgical Pathology

106

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A subset of renal cell carcinomas (RCCs) is characterized by t(6;11)(p21;q12), which results in fusion of the untranslated Alpha (MALAT1) gene to the TFEB gene. Only 21 genetically confirmed cases of t(6;11) RCCs have been reported. This neoplasm typically demonstrates a distinctive biphasic morphology, comprising larger epithelioid cells and smaller cells clustered around basement membrane material; however, the full spectrum of its morphologic appearances is not known. The t(6;11) RCCs differ from most conventional RCCs in that they consistently express melanocytic immunohistochemical (IHC) markers such as HMB45 and Melan A and the cysteine protease cathepsin K but are often negative for epithelial markers such as cytokeratins. TFEB IHC has been proven to be useful to confirm the diagnosis of t(6;11) RCCs in archival material, because native TFEB is upregulated through promoter substitution by the gene fusion. However, IHC is highly fixation dependent and has been proven to be particularly difficult for TFEB. A validated fluorescence in situ hybridization (FISH) assay for molecular confirmation of the t(6;11) RCC in archival formalin-fixed, paraffin-embedded material has not been previously reported. We report herein the development of a break-apart TFEB FISH assay for the diagnosis of t(6;11)(p21;q12) RCCs. We validated the assay on 4 genetically confirmed cases and 76 relevant expected negative control cases and used the assay to report 8 new cases that expand the clinicopathologic spectrum of t(6;11) RCCs. An additional previously reported TFEB IHC-positive case was confirmed by TFEB FISH in 46-year-old archival material. In conclusion, TFEB FISH is a robust, clinically validated assay that can confirm the diagnosis of t(6;11) RCC in archival material and should allow a more comprehensive clinicopathologic delineation of this recently recognized neoplastic entity.

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“…These t(6;11) associated tumors have been further characterized as tumors with epithelioid cell morphology, focal formation of basement membrane material, focal but strong immunoreactivity for the melanocytic marker (HMB-45), and a unique t(6;11)(p21.1;q12 or q13) translocation [2]. There are only a few cases of this exceedingly rare entity published to date in the English literature [2,[4][5][6][7][8][9][10][11]. The seminal publication on this topic is a comprehensive clinicopathological characterization by Argani et al [2] published in 2001.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2012

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Renal Cell Carcinoma With t(6;11) Translocation: A Patient Case With a Novel Alpha-TFEB Fusion Point

Cited by 23 publications

References 9 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)

Molecular Confirmation of t(6;11)(p21;q12) Renal Cell Carcinoma in Archival Paraffin-embedded Material Using a Break-apart TFEB FISH Assay Expands its Clinicopathologic Spectrum

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

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