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Molecular cytogenetics of t(X;1)(p11.2;q21) with complex rearrangements in a renal cell carcinoma
Cancer Genetics and Cytogenetics 123 (2000) 61–64
Short communication
Molecular cytogenetics of t(X;1)(p11.2;q21) with complex rearrangements in a renal cell carcinoma Hélène Zattara-Cannonia,*, Laurent Danielb, Patrice Rolla, Christian Coulangec, Anne-Marie Vagner-Capodanoa a Cytogenetic Oncology Laboratory, CHU Timone Marseille, 254 Rue Saint-Pierre, 13385 Marseille Cedex 5, France Department of Pathology and Neuropathology, CHU Timone Marseille, 254 Rue Saint-Pierre, 13385 Marseille Cedex 5, France c Department of Urology, Hospital Salvator Marseille, 254 Rue Saint-Pierre, 13385 Marseille Cedex 5, France Received 7 March 2000; accepted 30 May 2000
b
Abstract
We report a new case of renal cell carcinoma with the translocation (X;1)(p11;q21) and complex structural rearrangements in a female patient of 64 years of age. We analyzed abnormalities using FISH to identify chromosomal rearrangements, and wonder whether the translocation (X;1) could represent a particular subentity in renal cell carcinoma with distinct histologic features. © 2000 Elsevier Science Inc. All rights reserved.
1. Introduction Renal cell carcinoma (RCC), the most common cancer of the kidney, can be divided into tubulo-papillary tumors and conventional RCCs [1]. They account for 3% of adult malignancies, and frequently occur in men during the sixth decade of life. Cytogenetic and molecular genetic investigations of RCC have revealed consistent chromosomal abnormalities corresponding to the different histologic RCC subtypes. A deletion of chromosome 3p occurs in the clear cell type which is the most common type of RCC [2]. Papillary RCCs comprise as much as 10% of human kidney tumors and are rare in children. Cytogenetic studies usually show tri- or tetrasomy 7, and trisomies 17, 12, 16, and 20 [3]. Recently, several authors have described a t(X;1)(p11; q21) representing a specific subgroup of RCC [4–7]. We report here a new case of a translocation (X;1) associated with complex structural abnormalities of chromosomes 7, 15, 21, and 22 in a conventional RCC in a woman.
One part of the surgical specimen was taken for histopathologic examinations and another for cytogenetic analysis. 3. Histopathology The tumor was a nonencapsulated, grey, and without evident cystic spaces. A mild hilar soft tissue involvement was noted. The tumor exhibited heterogeneous histological features, characterized by a mixture of papillary (Fig. 1) and solid patterns (Fig. 2). The papillary epithelial cells were cuboidal with clear or basophilic cytoplasm. The nuclei often did not display large nucleoli according to the Führman grade 2 tumor. There was no hemorrhage or necrosis. Solid cell sheets were made up of typically clear polygonal cells.
2. Case report The patient is a 64-year-old woman, who presented a painful abdominal syndrome. Echographic and CT-scan investigations revealed a renal tumor. The patient underwent a nephrectomy. * Corresponding author. Tel.: ⫹33-4-91-38-74-02; fax: ⫹33-4-91-3850-33. E-mail address: [email protected] (H. Zattara-Cannoni).
Fig. 1. Histology of tumor: The tumor pattern was predominantly made of papillary structures without foamy cells or microlithiasis (H&E, 100⫻).
0165-4608/00/$ – see front matter © 2000 Elsevier Science Inc. All rights reserved. PII: S0165-4608(00)00 2 9 9 - 5
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H. Zattara-Cannoni et al. / Cancer Genetics and Cytogenetics 123 (2000) 61–64
tions discarded. Next, the fragments were disaggregated in collagenase type II and incubated at 37⬚C for several hours. These cell suspensions were then centrifuged, and the pellets seeded into 25 cm2 tissue culture Falcon flasks with medium containing Ham F10 with AB, supplemented by 10% fetal calf serum, and incubated at 37⬚C in a 5% CO2 atmosphere. Cultures were observed daily through a binocular magnifying lens, and when cultures entered exponential growth, chromosomal analysis was performed by routine cytogenetic techniques. The R-banding technique [8] was used for chromosomal identification. The constitutional karyotype of the patient was determined in lymphocyte cultures and was normal. Fig. 2. Tumoral sheets of clear cells located within a fibrohyalin stroma (H&E, 400⫻).
It was noted that there were numerous areas of papillary pattern with lining clear cells. Tumor cells reacted with vimentin and pancytokeratin, but not with cytokeratin 7, a well established marker of the distal tubules and collecting ducts.
4.2. FISH-WCP investigation WCP specific probe for human chromosomes 1, 7, 15, and X (Vysis probe labeled with biotin) and for chromosomes 15, 21, and 22 (Vysis probe labeled with digoxigenin) were used for fluorescence in situ hybridization (FISH). Hybridization and detection were carried out following the Vysis instructions.
4. Material and methods 5. Results
4.1. Cytogenetics Sterile tumor tissue was obtained from the operating room and immediately taken to the laboratory where it was dissected using aseptic techniques. First, tumor tissue was finely minced with a scalpel, and bloody and necrosed por-
5.1. Cytogenetics Cytogenetic analysis of 17 metaphases of tumor tissue showed complex structural abnormalities: 44,X,t(X;1)(p11.2; q21),⫺7,⫺15,⫺21,⫺22,⫹mar1,⫹mar2 (Fig. 3).
Fig. 3. R-banded karyotype of a cell of RCC 44,X,t(X;1)(p11.2;q21),⫺7,⫺15,⫺21,⫺22,⫹mar1,⫹mar2.
H. Zattara-Cannoni et al. / Cancer Genetics and Cytogenetics 123 (2000) 61–64
Fig. 4. FISH with a probe for chromosome 7 labeled with FITC and a probe for chromosome 22 labeled with Texas-red showing normal chromosomes 7 and 22 and the insertion of chromosome 22 into chromosome 7.
5.2. FISH technique We carried out FISH simultaneously using a probe for chromosome 7 labeled with FITC and a probe for chromosome 22 labeled with Texas-red. We observed one normal chromosome 7 (green), one normal chromosome 22 (red), and a marker chromosome resulting in the insertion of chromosome 22 into chromosome 7, corresponding to the marker 1 (Fig. 4). Fluorescence in situ hybridization using probes of chromosomes 1, X, 15, and 21 allowed us to confirm the translocation (X;1) and permitted us to identify the second chromosome marker as a rearrangement between chromosomes 15 and 21. In a partial karyotype are shown the chromosomes involved in these rearrangements with the breakpoints (Fig. 5).
63
The first reports concluded that Xp21 aberrations characterized a subgroup of tumors in young men [4,6,9]. This predominance of males initially described, has not been confirmed by additional studies (6 female cases/8 male cases) (Table 1). We report here a new female case. The sex ratio in cases with t(X;1) appears similar to that observed in other RCC. Age distribution of the tumors showing a t(X;1) is strikingly different from that of the general incidence of kidney tumors. Although, papillary renal tumors have been described in all ages, they occur mainly in adults during the sixth decade. Eight cases of the cases documented occurred in children or in young adults (Table 1). Our case occurred in a 64-year-old woman. Histologically, most cases revealed a papillary growth pattern, but some were evaluated as mixed-type tumors containing both papillary structures and solid sheets of clear cells. Despite this papillary pattern, these tumors were not included in the tubulo-papillary RCC subtype. In addition, papillae showed no foamy cells or calcification. Contrary to the tubulo-papillary renal tumors in adults, our case did not show trisomies of chromosomes 7, 12, 16, 17, or 20. We observed loss of chromosomes 7, 15, 21, and 22 and the presence of two chromosome markers. In order to identify these markers we performed FISH analysis using WCP probes and confirmed the t(X;1). Seven of the 15 reported cases with t(X;1) had additional structural chromosomal abnormalities. We report here a new case of t(X;1) associated with complex structural abnormalities, previously not described in the literature: insertion of chromosome 22 into chromosome 7 and a rearrangement between chromosomes 15 and 21. The translocation (X;1)(p11.2;q21) junction has been cloned. This translocation results in a fusion of the PRCC gene at 1q21.2 with TFE3 gene (transcription factor) at Xp11.2 [10]. Additional reports of renal cancer with t(X;1) are required to delineate the pathogenesis of these tumors, and to evaluate if these tumors represent a particular histological subtype with a specific prognostic value.
6. Discussion
Acknowledgments
Fifteen cases of translocation (X;1) have been reported in the literature. They are summarized in Table 1.
This study was supported in part by La Ligue Nationale contre le Cancer du Var.
Fig. 5. Partial karyotype. (A) t(X;1)(p11.2;q21). (B) ins(15;21)(q14;q11q22). (C ) ins(7;22)(22pter→22q11::7p22→7p15::22q11→22qter::7p15→7qter).
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H. Zattara-Cannoni et al. / Cancer Genetics and Cytogenetics 123 (2000) 61–64
Table 1 Clinical, histological and cytogenetic data of RCC with t(X;1) Patient No.
Age/Sex
Histopathology
Karyotype
Reference
6 7 8
/M 24/M 15/M
Papillary Papillary Clear cells ⫹ papillary foci
9
52/M
10
54/F
11
14/F
Papillary growth pattern ⫹ clear cells features Metastasis: epithelial proliferation with papillary growth pattern Papillary
12
10/M
RCC
13 14 15
9/F 9/F 23/F
Papillary growth pattern Papillary growth pattern RCC
t(X;1)(p11.2;p34.1) 46,X,⫺X,t(X;1)(p11.2;p34.3), der(16)t(1;6)(p34.3;q24), der(19)t(X;19)(q13;p13) 46,Y,t(X;1)(p11.2;q21.2) 49,Y,t(X;1)(p11.2;q21),⫹7,⫹15,⫹17 41,Y,t(X;1)(p11.2;q21),i(1q), der(3)t(3;13)(p12;q12),⫺4,⫺5, inv(7)(p11q11.1),⫺9,⫺10,⫺11,⫺13, der(16)t(16 ?),⫹17, ⫺18,⫹20[8]/40,idem,⫺Y[6]/46,XY[5] 45,Y,t(X;1)(p11.2;q21),⫺22 46,Y,t(X;1)(p11.2;q21.1)[2]/46, idem,inv(13)(q12q22)[13] 49,Y,t(X;1)(p11.2;q21), der(X)t(X;1)(p11.2;q21), ⫹5,⫺16, ⫹17,⫹18 51,Y,t(X;1)(p11.2;p34),⫹5, der(5)t(1;6)(q11;q11),⫹7,⫹8, ⫹11,⫹20 45,X,der(X)t(X;1)(p11.2;q21.2), der(1)t(X;1)(p11; q21.2) del(1)(p3?4 p3?5),del(3)(p11),⫺15 43ⵑ46,X,t(X;1)(p11.2;q21)[5]/80ⵑ88,X,t(X;1)(p11;q21)[5]/ 45ⵑ86,X,t(X;1)(p11;q21), add(5)(p15-1)[2] 47,XXYc,t(X;1)(p11.2;q21)[6]/47, XXYc,t(X;1)(p11.2;q21), r(Xp)[2]/46,XYc,t(X;1)(p11.2;q21)[7] 46,X,t(X;1)(p11;q21) 46,X,t(X;1)(p11;q21) 46,X,t(X;1)(p11.2;q21)[17]/ 92,X,t(X;1)(p11.2;q21)[3]
Yoshida et al.[11] Kovacs et al. [12]
2/M 68/M 55/M
? Trabecular papillary carcinoma composed of large clear cells Clear cells ⫹ papillary features Papillary Papillary
1 2
?/? 68/F
3 4 5
References [1] Storkel S, Eble JN, Adlakha K, Amin M, Blute ML, Bostwick DG, Darson M, Delahunt B, Iczkowski K. Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC). Cancer 1997;80:987–9. [2] Kovacs G, Szucs S, De Riese W, Baumgartel H. Specific chromosome aberration in human renal cell carcinoma. Int J Cancer 1987;40: 171–8. [3] Kovacs G, Fuzesi L, Emanual A, Kung HF. Cytogenetics of papillary renal cell tumors. Genes Chromosom Cancer 1991;3:249–55. [4] Tonk V, Wilson KS, Timmons CF, Schneider NR, Tomlinson GE. Renal cell carcinoma with translocation (X;1). Further evidence for a cytogenetically defined subtype. Cancer Genet Cytogenet 1995;81: 72–5. [5] Dijkhuizen T, van den BE, Wilbrink M, Weterman M, Geurts vK, Storkel S, Folkers RP, Braam A, de Jong B. Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations. Genes Chromosom Cancer 1995;14:43–50. [6] de Jong B, Molenaar IM, Leeuw JA, Idenberg VJ, Oosterhuis JW. Cytogenetics of a renal adenocarcinoma in a 2-year-old child. Cancer Genet Cytogenet 1986;21:165–9. [7] Perot C, Bougaran J, Boccon-Gibod L, Storkel S, Leverger G, van den AJ, Taillemite JL, Couturier J. Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females. Cancer Genet Cytogenet 1999;110:54–6. [8] Dutrillaux B, Lejeune J. [A new technic of analysis of the human
[9]
[10]
[11] [12]
[13]
[14]
[15]
[16]
de Jong et al. [6] Meloni et al. [9] Meloni et al.[9]
Meloni et al. [9] Meloni et al. [9] Tonk et al. [4] Dijkhuizen et al. [5] Dal Cin et al. [13] Kardas et al. [14] Yenemandra et al. [15] Perot et al. [7] Perot et al. [7] Desangles et al. [16]
karyotype] Sur une nouvelle technique d’analyse du caryotype humain. CR Acad Sci 1971;272:2638–40. Meloni AM, Dobbs RM, Pontes JE, Sandberg AA. Translocation (X; 1) in papillary renal cell carcinoma. A new cytogenetic subtype. Cancer Genet Cytogenet 1993;65:1–6. Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS. The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum Mol Genet 1996;5:1333–8. Yoshida MA, Ochi-Takeuchi H, Gibas Z, Sandberg AA. Updating of chromosome changes in renal cell carcinoma. Proc AACR 1985;26:31. Kovacs G, Szucs S, Eichner W, Maschek HJ, Wahnschaffe U, De Riese W. Renal oncocytoma. A cytogenetic and morphologic study. Cancer 1987;59:2071–7. Dal Cin P, Stas M, Sciot R, De W, I, Van Damme B, Van den BH Translocation (X;1) reveals metastasis 31 years after renal cell carcinoma. Cancer Genet Cytogenet 1998;101:58–61. Kardas I, Denis A, Babinska M, Gronwald J, Podolski J, Zajaczek S, Kram A, Lubinski J, Limon J. Translocation (X;1)(p11.2;q21) in a papillary renal cell carcinoma in a 14-year-old girl. Cancer Genet Cytogenet 1998;101:159–61. Yenamandra A, Zhou X, Trinchitella L, Susin M, Sastry S, Mehta L. Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome. Am J Med Genet 1998;77:281–4. Desangles F, Camparo P, Fouet C, Houlgatte A, Arborio M. Translocation (X;1) associated with a nonpapillary carcinoma in a young woman: a new definition for an Xp11.2 RCC subtype. Cancer Genet Cytogenet 1999;113:141–4.
Short communication
Molecular cytogenetics of t(X;1)(p11.2;q21) with complex rearrangements in a renal cell carcinoma Hélène Zattara-Cannonia,*, Laurent Danielb, Patrice Rolla, Christian Coulangec, Anne-Marie Vagner-Capodanoa a Cytogenetic Oncology Laboratory, CHU Timone Marseille, 254 Rue Saint-Pierre, 13385 Marseille Cedex 5, France Department of Pathology and Neuropathology, CHU Timone Marseille, 254 Rue Saint-Pierre, 13385 Marseille Cedex 5, France c Department of Urology, Hospital Salvator Marseille, 254 Rue Saint-Pierre, 13385 Marseille Cedex 5, France Received 7 March 2000; accepted 30 May 2000
b
Abstract
We report a new case of renal cell carcinoma with the translocation (X;1)(p11;q21) and complex structural rearrangements in a female patient of 64 years of age. We analyzed abnormalities using FISH to identify chromosomal rearrangements, and wonder whether the translocation (X;1) could represent a particular subentity in renal cell carcinoma with distinct histologic features. © 2000 Elsevier Science Inc. All rights reserved.
1. Introduction Renal cell carcinoma (RCC), the most common cancer of the kidney, can be divided into tubulo-papillary tumors and conventional RCCs [1]. They account for 3% of adult malignancies, and frequently occur in men during the sixth decade of life. Cytogenetic and molecular genetic investigations of RCC have revealed consistent chromosomal abnormalities corresponding to the different histologic RCC subtypes. A deletion of chromosome 3p occurs in the clear cell type which is the most common type of RCC [2]. Papillary RCCs comprise as much as 10% of human kidney tumors and are rare in children. Cytogenetic studies usually show tri- or tetrasomy 7, and trisomies 17, 12, 16, and 20 [3]. Recently, several authors have described a t(X;1)(p11; q21) representing a specific subgroup of RCC [4–7]. We report here a new case of a translocation (X;1) associated with complex structural abnormalities of chromosomes 7, 15, 21, and 22 in a conventional RCC in a woman.
One part of the surgical specimen was taken for histopathologic examinations and another for cytogenetic analysis. 3. Histopathology The tumor was a nonencapsulated, grey, and without evident cystic spaces. A mild hilar soft tissue involvement was noted. The tumor exhibited heterogeneous histological features, characterized by a mixture of papillary (Fig. 1) and solid patterns (Fig. 2). The papillary epithelial cells were cuboidal with clear or basophilic cytoplasm. The nuclei often did not display large nucleoli according to the Führman grade 2 tumor. There was no hemorrhage or necrosis. Solid cell sheets were made up of typically clear polygonal cells.
2. Case report The patient is a 64-year-old woman, who presented a painful abdominal syndrome. Echographic and CT-scan investigations revealed a renal tumor. The patient underwent a nephrectomy. * Corresponding author. Tel.: ⫹33-4-91-38-74-02; fax: ⫹33-4-91-3850-33. E-mail address: [email protected] (H. Zattara-Cannoni).
Fig. 1. Histology of tumor: The tumor pattern was predominantly made of papillary structures without foamy cells or microlithiasis (H&E, 100⫻).
0165-4608/00/$ – see front matter © 2000 Elsevier Science Inc. All rights reserved. PII: S0165-4608(00)00 2 9 9 - 5
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H. Zattara-Cannoni et al. / Cancer Genetics and Cytogenetics 123 (2000) 61–64
tions discarded. Next, the fragments were disaggregated in collagenase type II and incubated at 37⬚C for several hours. These cell suspensions were then centrifuged, and the pellets seeded into 25 cm2 tissue culture Falcon flasks with medium containing Ham F10 with AB, supplemented by 10% fetal calf serum, and incubated at 37⬚C in a 5% CO2 atmosphere. Cultures were observed daily through a binocular magnifying lens, and when cultures entered exponential growth, chromosomal analysis was performed by routine cytogenetic techniques. The R-banding technique [8] was used for chromosomal identification. The constitutional karyotype of the patient was determined in lymphocyte cultures and was normal. Fig. 2. Tumoral sheets of clear cells located within a fibrohyalin stroma (H&E, 400⫻).
It was noted that there were numerous areas of papillary pattern with lining clear cells. Tumor cells reacted with vimentin and pancytokeratin, but not with cytokeratin 7, a well established marker of the distal tubules and collecting ducts.
4.2. FISH-WCP investigation WCP specific probe for human chromosomes 1, 7, 15, and X (Vysis probe labeled with biotin) and for chromosomes 15, 21, and 22 (Vysis probe labeled with digoxigenin) were used for fluorescence in situ hybridization (FISH). Hybridization and detection were carried out following the Vysis instructions.
4. Material and methods 5. Results
4.1. Cytogenetics Sterile tumor tissue was obtained from the operating room and immediately taken to the laboratory where it was dissected using aseptic techniques. First, tumor tissue was finely minced with a scalpel, and bloody and necrosed por-
5.1. Cytogenetics Cytogenetic analysis of 17 metaphases of tumor tissue showed complex structural abnormalities: 44,X,t(X;1)(p11.2; q21),⫺7,⫺15,⫺21,⫺22,⫹mar1,⫹mar2 (Fig. 3).
Fig. 3. R-banded karyotype of a cell of RCC 44,X,t(X;1)(p11.2;q21),⫺7,⫺15,⫺21,⫺22,⫹mar1,⫹mar2.
H. Zattara-Cannoni et al. / Cancer Genetics and Cytogenetics 123 (2000) 61–64
Fig. 4. FISH with a probe for chromosome 7 labeled with FITC and a probe for chromosome 22 labeled with Texas-red showing normal chromosomes 7 and 22 and the insertion of chromosome 22 into chromosome 7.
5.2. FISH technique We carried out FISH simultaneously using a probe for chromosome 7 labeled with FITC and a probe for chromosome 22 labeled with Texas-red. We observed one normal chromosome 7 (green), one normal chromosome 22 (red), and a marker chromosome resulting in the insertion of chromosome 22 into chromosome 7, corresponding to the marker 1 (Fig. 4). Fluorescence in situ hybridization using probes of chromosomes 1, X, 15, and 21 allowed us to confirm the translocation (X;1) and permitted us to identify the second chromosome marker as a rearrangement between chromosomes 15 and 21. In a partial karyotype are shown the chromosomes involved in these rearrangements with the breakpoints (Fig. 5).
63
The first reports concluded that Xp21 aberrations characterized a subgroup of tumors in young men [4,6,9]. This predominance of males initially described, has not been confirmed by additional studies (6 female cases/8 male cases) (Table 1). We report here a new female case. The sex ratio in cases with t(X;1) appears similar to that observed in other RCC. Age distribution of the tumors showing a t(X;1) is strikingly different from that of the general incidence of kidney tumors. Although, papillary renal tumors have been described in all ages, they occur mainly in adults during the sixth decade. Eight cases of the cases documented occurred in children or in young adults (Table 1). Our case occurred in a 64-year-old woman. Histologically, most cases revealed a papillary growth pattern, but some were evaluated as mixed-type tumors containing both papillary structures and solid sheets of clear cells. Despite this papillary pattern, these tumors were not included in the tubulo-papillary RCC subtype. In addition, papillae showed no foamy cells or calcification. Contrary to the tubulo-papillary renal tumors in adults, our case did not show trisomies of chromosomes 7, 12, 16, 17, or 20. We observed loss of chromosomes 7, 15, 21, and 22 and the presence of two chromosome markers. In order to identify these markers we performed FISH analysis using WCP probes and confirmed the t(X;1). Seven of the 15 reported cases with t(X;1) had additional structural chromosomal abnormalities. We report here a new case of t(X;1) associated with complex structural abnormalities, previously not described in the literature: insertion of chromosome 22 into chromosome 7 and a rearrangement between chromosomes 15 and 21. The translocation (X;1)(p11.2;q21) junction has been cloned. This translocation results in a fusion of the PRCC gene at 1q21.2 with TFE3 gene (transcription factor) at Xp11.2 [10]. Additional reports of renal cancer with t(X;1) are required to delineate the pathogenesis of these tumors, and to evaluate if these tumors represent a particular histological subtype with a specific prognostic value.
6. Discussion
Acknowledgments
Fifteen cases of translocation (X;1) have been reported in the literature. They are summarized in Table 1.
This study was supported in part by La Ligue Nationale contre le Cancer du Var.
Fig. 5. Partial karyotype. (A) t(X;1)(p11.2;q21). (B) ins(15;21)(q14;q11q22). (C ) ins(7;22)(22pter→22q11::7p22→7p15::22q11→22qter::7p15→7qter).
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H. Zattara-Cannoni et al. / Cancer Genetics and Cytogenetics 123 (2000) 61–64
Table 1 Clinical, histological and cytogenetic data of RCC with t(X;1) Patient No.
Age/Sex
Histopathology
Karyotype
Reference
6 7 8
/M 24/M 15/M
Papillary Papillary Clear cells ⫹ papillary foci
9
52/M
10
54/F
11
14/F
Papillary growth pattern ⫹ clear cells features Metastasis: epithelial proliferation with papillary growth pattern Papillary
12
10/M
RCC
13 14 15
9/F 9/F 23/F
Papillary growth pattern Papillary growth pattern RCC
t(X;1)(p11.2;p34.1) 46,X,⫺X,t(X;1)(p11.2;p34.3), der(16)t(1;6)(p34.3;q24), der(19)t(X;19)(q13;p13) 46,Y,t(X;1)(p11.2;q21.2) 49,Y,t(X;1)(p11.2;q21),⫹7,⫹15,⫹17 41,Y,t(X;1)(p11.2;q21),i(1q), der(3)t(3;13)(p12;q12),⫺4,⫺5, inv(7)(p11q11.1),⫺9,⫺10,⫺11,⫺13, der(16)t(16 ?),⫹17, ⫺18,⫹20[8]/40,idem,⫺Y[6]/46,XY[5] 45,Y,t(X;1)(p11.2;q21),⫺22 46,Y,t(X;1)(p11.2;q21.1)[2]/46, idem,inv(13)(q12q22)[13] 49,Y,t(X;1)(p11.2;q21), der(X)t(X;1)(p11.2;q21), ⫹5,⫺16, ⫹17,⫹18 51,Y,t(X;1)(p11.2;p34),⫹5, der(5)t(1;6)(q11;q11),⫹7,⫹8, ⫹11,⫹20 45,X,der(X)t(X;1)(p11.2;q21.2), der(1)t(X;1)(p11; q21.2) del(1)(p3?4 p3?5),del(3)(p11),⫺15 43ⵑ46,X,t(X;1)(p11.2;q21)[5]/80ⵑ88,X,t(X;1)(p11;q21)[5]/ 45ⵑ86,X,t(X;1)(p11;q21), add(5)(p15-1)[2] 47,XXYc,t(X;1)(p11.2;q21)[6]/47, XXYc,t(X;1)(p11.2;q21), r(Xp)[2]/46,XYc,t(X;1)(p11.2;q21)[7] 46,X,t(X;1)(p11;q21) 46,X,t(X;1)(p11;q21) 46,X,t(X;1)(p11.2;q21)[17]/ 92,X,t(X;1)(p11.2;q21)[3]
Yoshida et al.[11] Kovacs et al. [12]
2/M 68/M 55/M
? Trabecular papillary carcinoma composed of large clear cells Clear cells ⫹ papillary features Papillary Papillary
1 2
?/? 68/F
3 4 5
References [1] Storkel S, Eble JN, Adlakha K, Amin M, Blute ML, Bostwick DG, Darson M, Delahunt B, Iczkowski K. Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC). Cancer 1997;80:987–9. [2] Kovacs G, Szucs S, De Riese W, Baumgartel H. Specific chromosome aberration in human renal cell carcinoma. Int J Cancer 1987;40: 171–8. [3] Kovacs G, Fuzesi L, Emanual A, Kung HF. Cytogenetics of papillary renal cell tumors. Genes Chromosom Cancer 1991;3:249–55. [4] Tonk V, Wilson KS, Timmons CF, Schneider NR, Tomlinson GE. Renal cell carcinoma with translocation (X;1). Further evidence for a cytogenetically defined subtype. Cancer Genet Cytogenet 1995;81: 72–5. [5] Dijkhuizen T, van den BE, Wilbrink M, Weterman M, Geurts vK, Storkel S, Folkers RP, Braam A, de Jong B. Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations. Genes Chromosom Cancer 1995;14:43–50. [6] de Jong B, Molenaar IM, Leeuw JA, Idenberg VJ, Oosterhuis JW. Cytogenetics of a renal adenocarcinoma in a 2-year-old child. Cancer Genet Cytogenet 1986;21:165–9. [7] Perot C, Bougaran J, Boccon-Gibod L, Storkel S, Leverger G, van den AJ, Taillemite JL, Couturier J. Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females. Cancer Genet Cytogenet 1999;110:54–6. [8] Dutrillaux B, Lejeune J. [A new technic of analysis of the human
[9]
[10]
[11] [12]
[13]
[14]
[15]
[16]
de Jong et al. [6] Meloni et al. [9] Meloni et al.[9]
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