References of "Cancer Genetics & Cytogenetics"
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See detailGermline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Mutesa, Léon; Pierquin, Geneviève ULg; Janin, Nicolas ULg et al

in Cancer Genetics & Cytogenetics (2008), 182(1), 40-2

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant ... [more ▼]

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant tumors. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene. To date, solid tumors, and particularly brain tumors and rhabdomyosarcomas, have been documented in patients with NS; however, few cases of neuroblastoma associated with NS have been reported. Here we report an unusual case of neuroblastoma with mediastinal, retroperitoneal, and medullar locations associated in a NS patient carrying a PTPN11 germline missense mutation (p.G60A). This missense mutation occurs within the N-SH2 domain of the PTPN11 gene and has been reported to be associated with acute leukemia in NS patients. The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome. [less ▲]

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See detailAbnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique
Jeandidier, E.; Dastugue, N.; Mugneret, F. et al

in Cancer Genetics & Cytogenetics (2006), 166(1), 1-11

Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients ... [more ▼]

Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with hands 1q25, 2p21, 2q37, 3p21, 3p23, 4q31, 6p24-p25, 6p12, 7p15, 16p11, and 18q21 were detected. Rearrangements of band 21q11 and 21q21 were detected in six novel translocations with 5p15, 6p21, 15q21, 16p13, and 20q11 and with 1p33, 3q27, 5p14, 11q11, and 14q11, respectively. Duplications, triplications, amplifications, and isodicentric chromosomes were detected in eight, three, eight, and three patients, respectively. The present study shows both the wide distribution of the breakpoints on the long arm of chromosome 21 in hematopoietic malignancy and the diversity of the chromosomal rearrangements and the hematologic disorders involved. The findings invite further investigation of the 21q abnormalities to detect their associated molecular rearrangements. (c) 2006 Elsevier Inc. All rights reserved. [less ▲]

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See detailDeletions of the 3 ' BCR and 5 ' ABL regions in patients with Philadelphia-positive chronic myeloid leukemia: a one-step process occurring in about 10% of the cases without any evidence of genetic instability in the target cells
Fournier, M.; Lacrosse, S.; Jamar, Mauricette ULg et al

in Cancer Genetics & Cytogenetics (2005), 160(2), 184-187

Deletions of the 5' ABL region adjacent to the t(9;22)(q34;q11) have recently been reported in 8-32.7% of patients with chronic myeloid leukemia (CML). The deletions were visualized with fluorescence in ... [more ▼]

Deletions of the 5' ABL region adjacent to the t(9;22)(q34;q11) have recently been reported in 8-32.7% of patients with chronic myeloid leukemia (CML). The deletions were visualized with fluorescence in situ hybridization using, in the majority of the cases, the Vysis LSI BCR/ABL ES (extra signal) probe. In our series, 10 of 99 CML patients (10.1%) were characterized by a 5'ABL deletion. We show that 3' BCR losses are observed in nearly all the cases with 5' ABL deletions. Moreover, the different genetic events (Philadelphia chromosome formation; 5' ABL and 3' BCR deletions) occur simultaneously in a one-step process without any evidence for genetic instability in the target bone marrow cells. (c) 2005 Elsevier Inc. All rights reserved. [less ▲]

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See detailDeletion (6)(p22p25) is a recurrent anomaly of thymoma: report of a second case and review of the literature
Herens, Christian ULg; Radermecker, Maurice ULg; Servais, Anne-Marie ULg et al

in Cancer Genetics & Cytogenetics (2003), 146(1), 66-69

A patient with type AB thymoma and del(6)(p22p25) as the sole cytogenetic anomaly is described. This is the second report of a del(6)(p22p25) in a thymoma. The same deletion was previously found in ... [more ▼]

A patient with type AB thymoma and del(6)(p22p25) as the sole cytogenetic anomaly is described. This is the second report of a del(6)(p22p25) in a thymoma. The same deletion was previously found in association with a type A thymoma. Both patients presented with benign tumors. These data suggest that partial deletion of the short arm of chromosome 6 is a nonrandom change associated with benign thymomas. (C) 2003 Elsevier Inc. All rights reserved. [less ▲]

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See detailClonal chromosome aberrations in Philadelphia-negative cells from chronic myelocytic leukemia patients treated with imatinib mesylate: report of two cases.
Herens, Christian ULg; Baron, Frédéric ULg; Croisiau, Christiane et al

in Cancer Genetics & Cytogenetics (2003), 147(1), 78-80

Imatinib mesylate (tested as STI571), an abl kinase inhibitor, induces sustained, complete hematologic and cytogenetic responses in chronic myelocytic leukemia (CML) patients; however, emergence of clonal ... [more ▼]

Imatinib mesylate (tested as STI571), an abl kinase inhibitor, induces sustained, complete hematologic and cytogenetic responses in chronic myelocytic leukemia (CML) patients; however, emergence of clonal chromosomal aberrations in Philadelphia-negative (Ph-) cells during treatment has been reported. We describe two CML patients in chronic phase who presented with complete cytogenetic responses during imatinib mesylate therapy but developed new clonal chromosomal rearrangements in Ph- cells. The first patient presented with a duplication of chromosome 1, dup(1)(q21q42), and the second showed two new clonal aberrations consisting of inv(1)(q12q32) and del(7)(q22) in the same clone. [less ▲]

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See detailTranslocation (16;17)(Q22;P13) Is a Recurrent Anomaly of Aneurysmal Bone Cysts
Herens, Christian ULg; Thiry, Anne-Marie ULg; Dresse, M. F. et al

in Cancer Genetics & Cytogenetics (2001), 127(1), 83-4

Recently, Panoutsakopoulos et al. (1999) reported 2 cases of aneurysmal bone cysts with a recurrent (16;17)(q22;p13) translocation. We present here two additional cases harboring the same translocation as ... [more ▼]

Recently, Panoutsakopoulos et al. (1999) reported 2 cases of aneurysmal bone cysts with a recurrent (16;17)(q22;p13) translocation. We present here two additional cases harboring the same translocation as well as additional chromosomal changes. [less ▲]

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See detailInv(12)(Q15q24): A Nonrandom Change Associated with Myelodysplasia?
Scantamburlo, Gabrielle ULg; Lampertz, serge; Jamar, Michelle ULg et al

in Cancer Genetics & Cytogenetics (2000), 121(2), 206-7

A patient with refractory anemia and a paracentric inversion of chromosome 12, inv(12)(q15q24), is described. This is the second reported case with this chromosome anomaly, suggesting that this ... [more ▼]

A patient with refractory anemia and a paracentric inversion of chromosome 12, inv(12)(q15q24), is described. This is the second reported case with this chromosome anomaly, suggesting that this rearrangement is a rare but nonrandom change associated with myelodysplastic syndromes. [less ▲]

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See detailTranslocation (2;3)(p21;q26) as the sole anomaly in a case of primary myelofibrosis.
Herens, Christian ULg; Hermanne, Jean-Philippe; Tassin, Françoise ULg et al

in Cancer Genetics & Cytogenetics (1999), 110(1), 62-4

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with ... [more ▼]

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with the 11 other previously published myeloid-associated t(2p;3q) cases confirms that this nonrandom translocation involves a pluripotent stem cell and is associated with a poor prognosis. [less ▲]

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See detailEnhanced expression in seminoma of human zinc finger genes located on chromosome 19
Ogawa, Takehiko; Poncelet, Dominique A; Kinoshita, Yuzo et al

in Cancer Genetics & Cytogenetics (1998), 100(1), 36-42

Six Kruppel-type zinc finger (ZF) genes were cloned from a seminoma cDNA library. One, ZFS-1, showed high sequence homology to the ZNF91 KRAB (Kruppel-associated box) ZF gene family and also the same ... [more ▼]

Six Kruppel-type zinc finger (ZF) genes were cloned from a seminoma cDNA library. One, ZFS-1, showed high sequence homology to the ZNF91 KRAB (Kruppel-associated box) ZF gene family and also the same chromosomal assignment. Interestingly, Northern blot analyses using ZFS-1 and ZNF91 revealed that multiple ZF genes on chromosome 19 were predominantly expressed in seminomas. In addition, the testis and the seminoma showed specific expression of 2.3 kb transcript. Our results suggest that ZF genes on chromosome 19 may be implicated in the development and/or growth of seminomas. [less ▲]

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See detailViral Integration Sites in Human Papilloma Virus-33-Immortalized Cervical Keratinocyte Cell Lines
Gilles, Christine ULg; Piette, Jacques ULg; Ploton, D. et al

in Cancer Genetics & Cytogenetics (1996), 90(1), 63-9

The viral organization of HPV-33 was determined by Southern blotting in 2 HPV-33-immortalized cervical cell lines (CK11 and CK12) and compared to our previous results obtained on 10 other already ... [more ▼]

The viral organization of HPV-33 was determined by Southern blotting in 2 HPV-33-immortalized cervical cell lines (CK11 and CK12) and compared to our previous results obtained on 10 other already characterized HPV-33-immortalized cell lines (CK1 to CK10). As observed in CK1 to CK10, the viral DNA was found integrated in the cellular genome of CK11 and CK12. However, in CK11 and CK12, the integrated viral genome was deleted and mostly limited to the URR and the E6-E7 ORFs, stressing the importance of those sequences in the immortalization process. Furthermore, CK11 and CK12 showed a unique and identical integration site, as observed in CK1 to CK10, which also harbored HPV-33 integrated at a unique and identical site (which was however different from the one evidenced in CK11 and CK12). Indeed, in situ hybridizations on chromosomes allowed the precise localization of the viral DNA on chromosome 13q33-34 in CK1 to CK10 whereas it was mapped to chromosome 9p13 in CK11 and CK12. We discuss the possibility that integration of HPV-33 at those two particular sites has conferred some growth advantages to the cells and could have thus played a crucial role in the immortalization. [less ▲]

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See detailCytogenetic Changes in Hepatocarcinomas from Rats Treated with Chronic Exposure to Diethylnitrosamine
Herens, Christian ULg; Alvarez Gonzalez, Maria-Luz ULg; Barbason, Hervé ULg

in Cancer Genetics & Cytogenetics (1992), 60(1), 45-52

Cytogenetic analysis of rat hepatocarcinomas obtained after diethylnitrosamine (DEN) exposure showed a wide variety of numerical and structural chromosomal changes: 53 of 86 hepatocellular carcinomas ... [more ▼]

Cytogenetic analysis of rat hepatocarcinomas obtained after diethylnitrosamine (DEN) exposure showed a wide variety of numerical and structural chromosomal changes: 53 of 86 hepatocellular carcinomas showed at least one recurrent chromosomal aberration. Some of these recurrent changes occurred in several tumors. Chromosomes 1, 3, 11, and 12 were abnormal in more than 30% of the carcinomas; chromosomes 2, 4, 5, and 10 were abnormal in 10%. Moreover, chromosomes 1 and 10 were generally lost or deleted and chromosome 3, 4, and 11 were very often gained. The most frequent anomaly was loss of chromosome 1 which was observed in 35% of the tetraploid cell populations. The occurrence in several tumors of recurrent chromosomal rearrangements as well as various repeated aneuploidies strongly suggests that these anomalies are implicated in the process of rat hepatocarcinogenesis induced by DEN treatment. [less ▲]

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