Xp11 Translocation Renal Cell Carcinoma: Delayed but Massive and Lethal Metastases of a Chemotherapy-Associated Secondary Malignancy
A recently described subtype of renal cell carcinoma (RCC) bearing chromosome translocations involving a breakpoint at Xp11 and resulting in gene fusions involving the TFE3 transcription factor gene often presents in the pediatric population. Herein we describe an Xp11 translocation RCC associated w...
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| Published in | Urology (Ridgewood, N.J.) Vol. 70; no. 1; pp. 178.e3 - 178.e6 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.07.2007
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| Abstract | A recently described subtype of renal cell carcinoma (RCC) bearing chromosome translocations involving a breakpoint at Xp11 and resulting in gene fusions involving the TFE3 transcription factor gene often presents in the pediatric population. Herein we describe an Xp11 translocation RCC associated with prior exposure to cytotoxic chemotherapy, which massively recurred and led to the patient’s death 17 years later. This case highlights the association of these RCCs with prior chemotherapy exposure, the tendency of these RCCs to recur late, their unusual pattern of metastases, and the utility of TFE3 immunohistochemistry in confirming their diagnosis in archival pathologic specimens. |
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| AbstractList | A recently described subtype of renal cell carcinoma (RCC) bearing chromosome translocations involving a breakpoint at Xp11 and resulting in gene fusions involving the
TFE3 transcription factor gene often presents in the pediatric population. Herein we describe an Xp11 translocation RCC associated with prior exposure to cytotoxic chemotherapy, which massively recurred and led to the patient’s death 17 years later. This case highlights the association of these RCCs with prior chemotherapy exposure, the tendency of these RCCs to recur late, their unusual pattern of metastases, and the utility of TFE3 immunohistochemistry in confirming their diagnosis in archival pathologic specimens. A recently described subtype of renal cell carcinoma (RCC) bearing chromosome translocations involving a breakpoint at Xp11 and resulting in gene fusions involving the TFE3 transcription factor gene often presents in the pediatric population. Herein we describe an Xp11 translocation RCC associated with prior exposure to cytotoxic chemotherapy, which massively recurred and led to the patient’s death 17 years later. This case highlights the association of these RCCs with prior chemotherapy exposure, the tendency of these RCCs to recur late, their unusual pattern of metastases, and the utility of TFE3 immunohistochemistry in confirming their diagnosis in archival pathologic specimens. |
| Author | Drabick, Joseph J Hicks, Jessica De Marzo, Angelo M Caroe, Alan E Rais-Bahrami, Soroush Ho, Clement Argani, Pedram |
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| References | Geller, Dome (bib6) 2004; 101 Argani, Laé, Ballard (bib2) 2006; 24 Tsuda, Davis, Argani (bib9) 2007; 67 Perot, Bougaran, Boccon-Gibod (bib8) 1999; 110 Argani, Lal, Hutchinson (bib3) 2003; 27 Argani, Ladanyi (bib1) 2006; 126 Ramphal, Pappo, Zielenska (bib4) 2006; 126 Argani, Antonescu, Illei (bib5) 2001; 159 Dal Cin, Stas, Sciot (bib7) 1998; 101 Argani (10.1016/j.urology.2007.03.037_bib5) 2001; 159 Dal Cin (10.1016/j.urology.2007.03.037_bib7) 1998; 101 Argani (10.1016/j.urology.2007.03.037_bib1) 2006; 126 Argani (10.1016/j.urology.2007.03.037_bib3) 2003; 27 Argani (10.1016/j.urology.2007.03.037_bib2) 2006; 24 Ramphal (10.1016/j.urology.2007.03.037_bib4) 2006; 126 Tsuda (10.1016/j.urology.2007.03.037_bib9) 2007; 67 Perot (10.1016/j.urology.2007.03.037_bib8) 1999; 110 Geller (10.1016/j.urology.2007.03.037_bib6) 2004; 101 |
| References_xml | – volume: 126 start-page: 1 year: 2006 end-page: 16 ident: bib4 article-title: Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the MiT transcription factor family publication-title: Am J Clin Pathol contributor: fullname: Zielenska – volume: 159 start-page: 179 year: 2001 end-page: 192 ident: bib5 article-title: Primary renal neoplasms with the publication-title: Am J Pathol contributor: fullname: Illei – volume: 126 start-page: 1 year: 2006 end-page: 4 ident: bib1 article-title: The evolving story of renal translocation carcinomas publication-title: Am J Clin Pathol contributor: fullname: Ladanyi – volume: 24 start-page: 1529 year: 2006 end-page: 1534 ident: bib2 article-title: Translocation carcinomas of the kidney after chemotherapy in childhood publication-title: J Clin Oncol contributor: fullname: Ballard – volume: 27 start-page: 750 year: 2003 end-page: 761 ident: bib3 article-title: Aberrant nuclear immunoreactivity for TFE3 in neoplasms with publication-title: Am J Surg Pathol contributor: fullname: Hutchinson – volume: 101 start-page: 1575 year: 2004 end-page: 1583 ident: bib6 article-title: Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma publication-title: Cancer contributor: fullname: Dome – volume: 101 start-page: 58 year: 1998 end-page: 61 ident: bib7 article-title: Translocation (X;1) reveals metastasis 31 years after renal cell carcinoma publication-title: Cancer Genet Cytogenet contributor: fullname: Sciot – volume: 110 start-page: 54 year: 1999 end-page: 56 ident: bib8 article-title: Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females publication-title: Cancer Genet Cytogenet contributor: fullname: Boccon-Gibod – volume: 67 start-page: 919 year: 2007 end-page: 929 ident: bib9 article-title: publication-title: Cancer Res contributor: fullname: Argani – volume: 67 start-page: 919 year: 2007 ident: 10.1016/j.urology.2007.03.037_bib9 article-title: TFE3 gene fusions activate MET signaling by transcriptional upregulation, defining another class of tumors as candidates for therapeutic MET inhibition publication-title: Cancer Res doi: 10.1158/0008-5472.CAN-06-2855 contributor: fullname: Tsuda – volume: 126 start-page: 1 year: 2006 ident: 10.1016/j.urology.2007.03.037_bib4 article-title: Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the MiT transcription factor family publication-title: Am J Clin Pathol doi: 10.1309/98YE9E442AR7LX2X contributor: fullname: Ramphal – volume: 126 start-page: 1 year: 2006 ident: 10.1016/j.urology.2007.03.037_bib1 article-title: The evolving story of renal translocation carcinomas publication-title: Am J Clin Pathol doi: 10.1309/EAEJTJGD5J4J3B4F contributor: fullname: Argani – volume: 101 start-page: 58 year: 1998 ident: 10.1016/j.urology.2007.03.037_bib7 article-title: Translocation (X;1) reveals metastasis 31 years after renal cell carcinoma publication-title: Cancer Genet Cytogenet doi: 10.1016/S0165-4608(97)00063-0 contributor: fullname: Dal Cin – volume: 110 start-page: 54 year: 1999 ident: 10.1016/j.urology.2007.03.037_bib8 article-title: Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females publication-title: Cancer Genet Cytogenet doi: 10.1016/S0165-4608(98)00181-2 contributor: fullname: Perot – volume: 101 start-page: 1575 year: 2004 ident: 10.1016/j.urology.2007.03.037_bib6 article-title: Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma publication-title: Cancer doi: 10.1002/cncr.20548 contributor: fullname: Geller – volume: 27 start-page: 750 year: 2003 ident: 10.1016/j.urology.2007.03.037_bib3 article-title: Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay publication-title: Am J Surg Pathol doi: 10.1097/00000478-200306000-00005 contributor: fullname: Argani – volume: 24 start-page: 1529 year: 2006 ident: 10.1016/j.urology.2007.03.037_bib2 article-title: Translocation carcinomas of the kidney after chemotherapy in childhood publication-title: J Clin Oncol doi: 10.1200/JCO.2005.04.4693 contributor: fullname: Argani – volume: 159 start-page: 179 year: 2001 ident: 10.1016/j.urology.2007.03.037_bib5 article-title: Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of young people publication-title: Am J Pathol doi: 10.1016/S0002-9440(10)61684-7 contributor: fullname: Argani |
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| SubjectTerms | Adolescent Carcinoma, Renal Cell - genetics Carcinoma, Renal Cell - secondary Fatal Outcome Humans Kidney Neoplasms - genetics Kidney Neoplasms - secondary Male Neoplasms, Second Primary - genetics Neuroectodermal Tumors, Primitive - drug therapy Thoracic Wall Translocation, Genetic Urology |
| Title | Xp11 Translocation Renal Cell Carcinoma: Delayed but Massive and Lethal Metastases of a Chemotherapy-Associated Secondary Malignancy |
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