Translocation (X;1)(p11.2;q21) in a Papillary Renal Cell Carcinoma in a 14-Year-Old Girl

Karda, Iwona; Denis, Andrzej; BabiÒska, Ma≥gorzata; Gronwald, Jacek; Podolski, J; Zaj±czek, Stanis≥aw; Kram, Andrzej; LubiÒski, Jan; Limon, Janusz

doi:10.1016/s0165-4608(97)00266-5

Cited by 20 publications

(10 citation statements)

References 9 publications

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“…More common is the t(X;1)(p11.2;q21.2) reported by several authors [Meloni et al, 1993; Tonk et al, 1995; Yenamandra et al, 1998; Kardas et al, 1998; Perot et al, 1999; Desangles et al, 1999]. This translocation is found mostly in male cases, but some affected female patients are cited in the literature [Shipley et al, 1995; Dal Cin et al, 1998b; Kardas et al, 1998; Desangles et al, 1999; Perot et al, 1999].…”

Section: Clinical Cytogenetic and Molecular Characteristics Of Renal mentioning

confidence: 96%

“…This translocation is found mostly in male cases, but some affected female patients are cited in the literature [Shipley et al, 1995; Dal Cin et al, 1998b; Kardas et al, 1998; Desangles et al, 1999; Perot et al, 1999]. In addition, it is important to point out that the RCC subtypes most commonly affected by this translocation have been the papillary and tubulopapillary types [Meloni et al, 1993; Kardas et al, 1998; Perot et al, 1999], but some cases of nonpapillary RCC have been reported [Desangles et al, 1999]…”

Section: Clinical Cytogenetic and Molecular Characteristics Of Renal mentioning

confidence: 99%

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Renal cancer: Cytogenetic and molecular genetic aspects

Meloni‐Ehrig

2002

Am. J. Med. Genet.

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To date, much progress has been made in the fields of cytogenetics and molecular genetics of renal tumors. The previous and recent findings have delineated the characteristics of the various tumors, particularly the cytogenetic and molecular differences that exist between papillary and nonpapillary clear cell renal cell carcinomas (RCCs). At the same time, new cytogenetic subtypes have emerged [e.g., t(X;1)] in subtypes of RCC, while in others (e.g., Wilms tumors) several new cytogenetic abnormalities and consequent molecular involvement have been found. In addition to Wilms tumor, papillary RCC, and clear-cell RCC, cytogenetic and fluorescence in situ hybridization analyses have been performed on several other tumors of the kidney, including chromophobic carcinoma, metanephric adenoma, collecting duct carcinoma, transitional cell carcinoma, congenital mesoblastic nephroma, and malignant rhabdoid tumors of the kidney. This review is therefore intended to present a concise update on the cytogenetic and molecular data on renal tumors, focusing mainly on the clinical usefulness of the findings reported in the literature.

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Section: Clinical Cytogenetic and Molecular Characteristics Of Renal mentioning

confidence: 96%

Section: Clinical Cytogenetic and Molecular Characteristics Of Renal mentioning

confidence: 99%

Renal cancer: Cytogenetic and molecular genetic aspects

Meloni‐Ehrig

2002

Am. J. Med. Genet.

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“…Subsequently, several reports of additional RCC translocation cases appeared in the literature (Meloni et al, 1993;Shipley et al, 1995;Tonk et al, 1995;Dal Cin et al, 1998;Dijkhuizen et al, 1998;Kardas et al, 1998;Yenamandra et al, 1998;Desangles et al, 1999;Perot et al, 1999;ZattaraCannoni et al, 2000;Ramphal et al, 2006), including variants (Tomlinson et al, 1991;Ohjimi et al, 1993;Dijkhuizen et al, 1995;Hernandez-Marti et al, 1995;Zhao et al, 1995;Clark et al, 1997;Ramphal et al, 2006). We and others found that, as a result of the t(X;1)(p11;q21) translocation, the transcription factor TFE3 gene on the X chromosome is fused to the PRCC gene on chromosome 1 (Sidhar et al, 1996;Weterman et al, 1996a, b).…”

Section: The Mit Translocation Subgroup Of Rccsmentioning

confidence: 99%

Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas

Medendorp¹,

Groningen²,

Schepens³

et al. 2007

Cytogenet Genome Res

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Renal cell carcinomas (RCCs) represent a heterogeneous group of neoplasms, which differ in histological, pathologic and clinical characteristics. The tumors originate from different locations within the nephron and are accompanied by different recurrent (cyto)genetic anomalies. Recently, a novel subgroup of RCCs has been defined, i.e., the MiT translocation subgroup of RCCs. These tumors originate from the proximal tubule of the nephron, exhibit pleomorphic histological features including clear cell morphologies and papillary structures, and are found predominantly in children and young adults. In addition, these tumors are characterized by the occurrence of recurrent chromosomal translocations, which result in disruption and fusion of either the TFE3 or TFEB genes, both members of the MiT family of basic helix-loop-helix/leucine-zipper transcription factor genes. Hence the name MiT translocation subgroup of RCCs. In this review several features of this RCC subgroup will be discussed, including the molecular mechanisms that may underlie their development.

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“…5 Moreover, multiple chromosomal translocation partners can be fused to TFE3 at Xp11.2 in this subset of RCCs. The 2 most common forms are the t(X;17)(p11.2;q25) translocation that fuses the transcription factor gene TFE3 with the ASPL gene on 17q25, [6][7][8][9][10][11][12][13][14][15] and the t(X;1)(p11.2;q21) or the t(X;1)(p11.2;p34) that fuses the TFE3 transcription factor gene on Xp11.2 with the PRCC gene at 1q21.2 [14][15][16][17][18][19][20][21][22][23][24][25][26][27] or the PSF gene on 1p34. 6,8,14,[28][29][30][31] The rarer forms of chromosomal abnormalities that involve TFE3 at Xp11.2 are the TFE3 fusions with NonO at Xq12, 31 del(X)(p11), 31 inv(X)(p11.2), 31 and an unknown gene at 10q23.…”

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confidence: 99%

Pediatric Renal Cell Carcinoma

et al. 2006

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We describe the clinical features, outcome, pathology, cytogenetics, and molecular aspects of 13 pediatric papillary renal cell carcinomas during a 19-year period. Seven cases (54%) had translocations involving Xp11.2 (TFE3). They were identified by cytogenetic, molecular, and/or immunohistochemical analyses. All Xp11.2+ translocations were TFE3+ by immunostaining. Cytogenetic and/or polymerase chain reaction analyses identified 3 cases with t(X17) and 1 case with t(1;17), and all had additional translocations. Histologic features in common in TFE3+ tumors also were present in some TFE3- tumors. One TFE3- tumor had complex cytogenetic abnormalities, 55XY,+2,del(3)(p14),+7,+8,+12,+13,+16,+17,+20[11 ], and 2 cases had normal karyotypes. None had t(6;11)/TFEB+ immunostaining. Five cases had focal, weak MITF tumor immunostaining. The key clinical findings were as follows: (1) The presence of an Xp11.2 (TFE3) translocation frequently is associated with advanced stage at initial examination. (2) All patients who underwent complete, partial nephrectomy with clear margins (adequate only for stage 1) and resection of metastases were alive and relapse-free at last follow-up. (3) The mean +/- SD event-free survival and overall survival rates at 5 years were both 92% +/- 7.4%. (4) One patients with a TFE3+ and MITF+ tumor and 66-87,XXY,der(1)t(1;8)del(4)(q?) der(11)t(11;15)der17t(X;17 abnormalities died 9 months after diagnosis.

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Translocation (X;1)(p11.2;q21) in a Papillary Renal Cell Carcinoma in a 14-Year-Old Girl

Cited by 20 publications

References 9 publications

Renal cancer: Cytogenetic and molecular genetic aspects

Renal cancer: Cytogenetic and molecular genetic aspects

Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas

Pediatric Renal Cell Carcinoma

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