Xp11 Translocation renal cell carcinoma in adults: Expanded clinical, pathologic, and genetic spectrum Journal Article
| Authors: | Argani, P.; Olgac, S.; Tickoo, S. K.; Goldfischer, M.; Moch, H.; Chan, D. Y.; Eble, J. N.; Bonsib, S. M.; Jimeno, M.; Lloreta, J.; Billis, A.; Hicks, J.; De Marzo, A. M.; Reuter, V. E.; Ladanyi, M. |
| Article Title: | Xp11 Translocation renal cell carcinoma in adults: Expanded clinical, pathologic, and genetic spectrum |
| Abstract: | The recently recognized Xp11 translocation renal cell carcinomas (RCCs), all of which bear gene fusions involving the TFE3 transcription factor gene, comprise at least one-third of pediatric RCC. Only rare adult cases have been reported, without detailed pathologic analysis. We identified and analyzed 28 Xp11 translocation RCC in patients over the age of 20 years. All cases were confirmed by TFE3 immunohistochemistry, a sensitive and specific marker of neoplasms with TFE3 gene fusions, which can be applied to archival material. Three cases were also confirmed genetically. Patients ranged from ages 22 to 78 years, with a strong female predominance (F:M=22:6). These cancers tended to present at advanced stage; 14 of 28 presented at stage 4, whereas lymph nodes were involved by metastatic carcinoma in 11 of 13 cases in which they were resected. Previously not described and distinctive clinical presentations included dense tumor calcifications such that the tumor mimicked renal lithiasis, and obstruction of the renal pelvis promoting extensive obscuring xanthogranulomatous pyelonephritis. Previously unreported morphologic variants included tumor giant cells, fascicles of spindle cells, and a biphasic appearance that simulated the RCC characterized by a t(6;11)(p21;q12) chromosome translocation. One case harbored a novel variant translocation, t(X;3)(p11;q23). Five of 6 patients with 1 or more years of follow-up developed hematogenous metastases, with 2 dying within 1 year of diagnosis. Xp11 translocation RCC can occur in adults, and may be aggressive cancers that require morphologic distinction from clear cell and papillary RCC. Although they may be uncommon on a percentage basis, given the vast predominance of RCC in adults compared with children, adult Xp11 translocation RCC may well outnumber their pediatric counterparts. © 2007 Lippincott Williams & Wilkins, Inc. |
| Keywords: | immunohistochemistry; adult; controlled study; aged; middle aged; cancer surgery; gene translocation; clinical feature; follow up; lymph nodes; lymphatic metastasis; metastasis; renal cell carcinoma; kidney carcinoma; kidney neoplasms; immunoenzyme techniques; carcinoma, renal cell; lymph node; gene fusion; chromosome translocation; chromosomes, human, x; translocation, genetic; kidney pelvis; spindle cell carcinoma; chromosomes, human, pair 11; morphological trait; cytogenetic analysis; calcinosis; tfe3; basic helix-loop-helix leucine zipper transcription factors; nephrolithiasis; giant cell tumor; tumor calcinosis; xanthogranulomatous pyelonephritis |
| Journal Title: | American Journal of Surgical Pathology |
| Volume: | 31 |
| Issue: | 8 |
| ISSN: | 0147-5185 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2007-08-01 |
| Start Page: | 1149 |
| End Page: | 1160 |
| Language: | English |
| DOI: | 10.1097/PAS.0b013e318031ffff |
| PUBMED: | 17667536 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 97" - "Export Date: 17 November 2011" - "CODEN: AJSPD" - "Source: Scopus" |
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