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

Qiu Rao, Biao Liu, Liang Cheng, Yun Zhu, Qun Li Shi, Bo Wu, Shao Jun Jiang, Yan Wang, Xuan Wang, Bo Yu, Ru Song Zhang, Heng Hui Ma, Zhen Feng Lu, Pin Tu, Jian Dong Wang, Xiao Jun Zhou

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and characterized by specific chromosome translocation, involving the transcription factor EB (TFEB). Fewer than 30 cases have been described in the literature. We examined 7 additional cases of this rare tumor by clinicopathologic, immunohistochemical, molecular, and ultrastructural analyses. Four tumors had the typical morphologic features of TFEB RCCs, whereas 3 cases demonstrated uncommon morphologic features, mimicking epithelioid angiomyolipoma, chromophobe cell RCC, and clear cell RCC, respectively. Immunohistochemically, aside from TFEB and cathepsin K, kidney-specific cadherin was another sensitive and relatively specific marker for TFEB RCCs, supporting a distal nephron origin for these renal tumors. We also observed different ultrastructures including mitochondrion with areas of lipofuscin pigment in the smaller cells in these cases. An identical Alpha-TFEB fusion gene, 486 bp, was identified in 2 cases. In addition to the polymerase chain reaction method, we also developed a fluorescence in situ hybridization assay to serve as a cost-effective and time-efficient diagnostic tool. We detected a TFEB gene rearrangement in all 7 cases using the fluorescence in situ hybridization method. TFEB RCC seemed to be an indolent tumor. During a mean follow-up of 31 months, none of the cases developed tumor recurrence, progression, or metastasis.

Original languageEnglish
Pages (from-to)1327-1338
Number of pages12
JournalAmerican Journal of Surgical Pathology
Volume36
Issue number9
DOIs
StatePublished - Sep 2012

Fingerprint

Gene Fusion
Fluorescence In Situ Hybridization
Renal Cell Carcinoma
Transcription Factors
Neoplasms
Cathepsin K
Angiomyolipoma
Lipofuscin
Gene Rearrangement
Nephrons
Mitochondria
Chromosomes
Neoplasm Metastasis
Kidney
Costs and Cost Analysis
Recurrence
Polymerase Chain Reaction

Keywords

  • 11)(p21
  • Alpha-TFEB gene fusion
  • FISH
  • molecular genetics
  • q12)
  • renal carcinomas with t(6
  • renal cell carcinoma
  • translocation RCC
  • ultrastructure

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

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. / Rao, Qiu; Liu, Biao; Cheng, Liang; Zhu, Yun; Shi, Qun Li; Wu, Bo; Jiang, Shao Jun; Wang, Yan; Wang, Xuan; Yu, Bo; Zhang, Ru Song; Ma, Heng Hui; Lu, Zhen Feng; Tu, Pin; Wang, Jian Dong; Zhou, Xiao Jun.

In: American Journal of Surgical Pathology, Vol. 36, No. 9, 09.2012, p. 1327-1338.

Research output: Contribution to journalArticle

Rao, Qiu ; Liu, Biao ; Cheng, Liang ; Zhu, Yun ; Shi, Qun Li ; Wu, Bo ; Jiang, Shao Jun ; Wang, Yan ; Wang, Xuan ; Yu, Bo ; Zhang, Ru Song ; Ma, Heng Hui ; Lu, Zhen Feng ; Tu, Pin ; Wang, Jian Dong ; Zhou, Xiao Jun. / 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. In: American Journal of Surgical Pathology. 2012 ; Vol. 36, No. 9. pp. 1327-1338.
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abstract = "Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and characterized by specific chromosome translocation, involving the transcription factor EB (TFEB). Fewer than 30 cases have been described in the literature. We examined 7 additional cases of this rare tumor by clinicopathologic, immunohistochemical, molecular, and ultrastructural analyses. Four tumors had the typical morphologic features of TFEB RCCs, whereas 3 cases demonstrated uncommon morphologic features, mimicking epithelioid angiomyolipoma, chromophobe cell RCC, and clear cell RCC, respectively. Immunohistochemically, aside from TFEB and cathepsin K, kidney-specific cadherin was another sensitive and relatively specific marker for TFEB RCCs, supporting a distal nephron origin for these renal tumors. We also observed different ultrastructures including mitochondrion with areas of lipofuscin pigment in the smaller cells in these cases. An identical Alpha-TFEB fusion gene, 486 bp, was identified in 2 cases. In addition to the polymerase chain reaction method, we also developed a fluorescence in situ hybridization assay to serve as a cost-effective and time-efficient diagnostic tool. We detected a TFEB gene rearrangement in all 7 cases using the fluorescence in situ hybridization method. TFEB RCC seemed to be an indolent tumor. During a mean follow-up of 31 months, none of the cases developed tumor recurrence, progression, or metastasis.",
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T2 - 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

AU - Rao, Qiu

AU - Liu, Biao

AU - Cheng, Liang

AU - Zhu, Yun

AU - Shi, Qun Li

AU - Wu, Bo

AU - Jiang, Shao Jun

AU - Wang, Yan

AU - Wang, Xuan

AU - Yu, Bo

AU - Zhang, Ru Song

AU - Ma, Heng Hui

AU - Lu, Zhen Feng

AU - Tu, Pin

AU - Wang, Jian Dong

AU - Zhou, Xiao Jun

PY - 2012/9

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N2 - Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and characterized by specific chromosome translocation, involving the transcription factor EB (TFEB). Fewer than 30 cases have been described in the literature. We examined 7 additional cases of this rare tumor by clinicopathologic, immunohistochemical, molecular, and ultrastructural analyses. Four tumors had the typical morphologic features of TFEB RCCs, whereas 3 cases demonstrated uncommon morphologic features, mimicking epithelioid angiomyolipoma, chromophobe cell RCC, and clear cell RCC, respectively. Immunohistochemically, aside from TFEB and cathepsin K, kidney-specific cadherin was another sensitive and relatively specific marker for TFEB RCCs, supporting a distal nephron origin for these renal tumors. We also observed different ultrastructures including mitochondrion with areas of lipofuscin pigment in the smaller cells in these cases. An identical Alpha-TFEB fusion gene, 486 bp, was identified in 2 cases. In addition to the polymerase chain reaction method, we also developed a fluorescence in situ hybridization assay to serve as a cost-effective and time-efficient diagnostic tool. We detected a TFEB gene rearrangement in all 7 cases using the fluorescence in situ hybridization method. TFEB RCC seemed to be an indolent tumor. During a mean follow-up of 31 months, none of the cases developed tumor recurrence, progression, or metastasis.

AB - Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and characterized by specific chromosome translocation, involving the transcription factor EB (TFEB). Fewer than 30 cases have been described in the literature. We examined 7 additional cases of this rare tumor by clinicopathologic, immunohistochemical, molecular, and ultrastructural analyses. Four tumors had the typical morphologic features of TFEB RCCs, whereas 3 cases demonstrated uncommon morphologic features, mimicking epithelioid angiomyolipoma, chromophobe cell RCC, and clear cell RCC, respectively. Immunohistochemically, aside from TFEB and cathepsin K, kidney-specific cadherin was another sensitive and relatively specific marker for TFEB RCCs, supporting a distal nephron origin for these renal tumors. We also observed different ultrastructures including mitochondrion with areas of lipofuscin pigment in the smaller cells in these cases. An identical Alpha-TFEB fusion gene, 486 bp, was identified in 2 cases. In addition to the polymerase chain reaction method, we also developed a fluorescence in situ hybridization assay to serve as a cost-effective and time-efficient diagnostic tool. We detected a TFEB gene rearrangement in all 7 cases using the fluorescence in situ hybridization method. TFEB RCC seemed to be an indolent tumor. During a mean follow-up of 31 months, none of the cases developed tumor recurrence, progression, or metastasis.

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KW - FISH

KW - molecular genetics

KW - q12)

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KW - translocation RCC

KW - ultrastructure

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