Pediatric Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions and Clinicopathologic Associations

SAGE Publications - Tập 8 Số 2 - Trang 168-180 - 2005
Gülçin Altınok1, Mireille M. Kattar2, Anwar N. Mohamed3, Janet Poulik1, David J. Grignon2, Raja Rabah1
1Department of Pathology, Children's Hospital of Michigan and Wayne State University, Detroit, MI, USA
2Department of Pathology, Harper University Hospital and Wayne State University, and Karmanos Cancer Institute, Detroit, MI, USA
3Department of Cytogenetics, Wayne State University, Detroit, MI, USA

Tóm tắt

Renal cell carcinomas (RCCs) are rare in children and studies of their subtypes and clinicopathologic associations are limited to small series. We identified 8 patients with RCC treated at our institution between 1981 and 2003, reviewed their clinicopathologic features, cytogenetics findings, and evaluated the status of TFE3 expression by immunohistochemistry and numerical chromosomal alterations by interphase fluorescent in situ hybridization on paraffin-embedded tissue. These 8 patients (5 female and 3 male) had diploidy, and 5 had morphologic features compatible with the recently described RCC associated with Xp11.2 translocations/TFE3 gene fusions and demonstrated nuclear labeling for TFE3 protein by immunohistochemistry. The translocation was confirmed in 2 of these 5 patients by conventional cytogenetics. One case was a high-grade nonpapillary RCC and the other was compatible with type 2 papillary RCC. Four patients showed at least 1 chromosomal gain including trisomy 7 and/or trisomy 17. None of the tumors from male patients showed evidence of loss of the Y chromosome, but 2 patients showed numerical abnormalities of X chromosome +add(X). Two patients had sickle cell disease, and 1 of these also had stage IV-S neuroblastoma. This study suggests that many cases of RCC in children reported under the terms “papillary” and “clear cell” likely represent Xp11.2 translocation/TFE3 gene fusion-associated RCC. It also emphasizes the unusual associations of RCC with neuroblastoma and sickle cell hemoglobinopathy, which need further study.

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Tài liệu tham khảo

10.1002/mpo.2950210106

10.1016/S0022-5347(17)54116-6

10.1016/S0022-3476(70)80474-7

10.1016/S0022-5347(17)49242-1

10.1016/S0720-048X(97)00037-5

10.1097/00125480-200007030-00001

10.1016/0165-4608(93)90050-V

10.1016/0165-4608(93)90136-A

10.1016/S0165-4608(94)00195-2

10.1016/0165-4608(86)90042-7

10.1093/hmg/5.9.1333

10.1073/pnas.93.26.15294

10.1016/S0165-4608(97)00266-5

10.1016/S0165-4608(98)00181-2

Yoshida MA, 1985, Proc Am Assoc Cancer, 26

10.1159/000134127

10.1002/gcc.2870140108

10.1038/sj.onc.1201394

10.1016/S0002-9440(10)61684-7

10.1016/0165-4608(91)90184-V

10.1016/0165-4608(94)00184-7

10.1097/00000478-200306000-00005

Kattar MM, 1997, Mod Pathol, 10, 1143

10.1016/0090-4295(93)90351-A

Eble JN, 2004, World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of the Urinary System and Male Genital Organs

10.1016/S0165-4608(98)00261-1

10.1016/S0165-4608(00)00299-5

10.1007/s10024-002-1010-0

10.1016/S0065-230X(08)60316-4

10.1002/mpo.2950110205

Moyad MA, 2001, Semin Urol Oncol, 19, 280

10.1097/00000478-199907000-00004

10.1016/S0022-5347(05)65808-9

10.2214/ajr.161.1.8517297

10.1002/1097-0142(197504)35:4<1230::AID-CNCR2820350430>3.0.CO;2-Q

10.1007/s00247-003-0913-x

10.1002/mpo.2950250111

10.1002/(SICI)1096-911X(199910)33:4<432::AID-MPO24>3.0.CO;2-K

10.2214/ajr.167.4.8819382

10.1001/jama.1979.03300200040021

10.2214/ajr.103.4.800

10.1016/S0022-5347(01)62221-3

10.1016/S0090-4295(96)00498-0

Dimashkieh H, 2003, Arch Pathol Lab Med, 127, 135, 10.5858/2003-127-e135-RMCARO

10.1097/00000478-199501000-00001

10.1016/S0022-5347(05)65841-7

Kawanami T, 1988, Am. J Dis Child, 142, 783

10.3109/15513819309048215

10.1159/000204199

10.1097/00000478-200212000-00003

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SAGE Publications

Tập 8 Số 2

168-180

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