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Dong Soon Lee - One of the best experts on this subject based on the ideXlab platform.

  • Deletion of any part of the BCR or ABL gene on the Derivative Chromosome 9 is a poor prognostic marker in chronic myelogenous leukemia.
    Cancer Genetics and Cytogenetics, 2006
    Co-Authors: Young Kyung Lee, Young Ree Kim, Han Ik Cho, Hyunchul Kim, Youngsoo Kim, Yun-song Lee, Hyun Chung Min, Tae Young Kim, Dong Soon Lee
    Abstract:

    To evaluate the prognostic significance of submicroscopic deletions of the ABL or BCR gene associated with t(9;22) in chronic myelogenous leukemia (CML), we investigated the incidence of an ABL or BCR deletion on Derivative Chromosome 9 using fluorescence in situ hybridization (FISH). FISH was performed using the LSI BCR/ABL dual-fusion translocation probe on bone marrow cells of 86 patients with CML. Of 86 patients, ABL deletion was detected in 13 (15.1%) patients and BCR deletion in 8 patients (9.3%). Patients with ABL deletion showed shorter event-free survival time (EFS) than those without ABL deletion (P = 0.020). Patients with BCR deletion showed significantly short overall survival time (OS; P = 0.039). Patients with ABL and/or BCR deletion (14/86 patients, 16.3%) showed significantly short OS and EFS (median OS, 43.0 months; median EFS, 40.0 months), compared to the patients without any BCR or ABL gene deletions (median OS, 94.0 months; median EFS, 90.0 months; P = 0.041 for OS, P = 0.008 for EFS). All the patients with BCR deletion, except for one, had a concomitant ABL deletion, suggesting that BCR deletion occurs in conjunction with ABL deletion. In patients with ABL deletion only, BCR/ABL rearrangement with b2a2 mRNA type tended to be more frequent than in patients without any deletion of the two genes (P = 0.073). Deletion of any of the BCR or ABL genes on Derivative Chromosome 9 was associated with both short OS and EFS. We conclude that deletion of not only the ABL gene, but also of the BCR gene, is a poor prognostic marker that indicates rapid disease progression in CML.

  • Deletion of any part of the BCR or ABL gene on the Derivative Chromosome 9 is a poor prognostic marker in chronic myelogenous leukemia Young Kyung Lee a , Young Ree Kim b , Hyun Chung Min c,d ,B o Ra Oh c,d , Tae Young Kim c,d ,
    2006
    Co-Authors: Youngsoo Kim, Han Ik Cho, Hyunchul Kim, Yun-song Lee, Dong Soon Lee
    Abstract:

    To evaluate the prognostic significance of submicroscopic deletions of the ABL or BCR gene asso- ciated with t(9;22) in chronic myelogenous leukemia (CML), we investigated the incidence of an ABL or BCR deletion on Derivative Chromosome 9 using fluorescence in situ hybridization (FISH). FISH was performed using the LSI BCR/ABL dual-fusion translocation probe on bone marrow cells of 86 patients with CML. Of 86 patients, ABL deletion was detected in 13 (15.1%) patients and BCR deletion in 8 patients (9.3%). Patients with ABL deletion showed shorter event-free survival time (EFS) than those without ABL deletion (P 5 0.020). Patients with BCR deletion showed signifi- cantly short overall survival time (OS; P 5 0.039). Patients with ABL and/or BCR deletion (14/ 86 patients, 16.3%) showed significantly short OS and EFS (median OS, 43.0 months; median EFS, 40.0 months), compared to the patients without any BCR or ABL gene deletions (median OS, 94.0 months; median EFS, 90.0 months; P 5 0.041 for OS, P 5 0.008 for EFS). All the patients with BCR deletion, except for one, had a concomitant ABL deletion, suggesting that BCR deletion occurs in conjunction with ABL deletion. In patients with ABL deletion only, BCR/ ABL rearrangement with b2a2 mRNA type tended to be more frequent than in patients without any deletion of the two genes (P 5 0.073). Deletion of any of the BCR or ABL genes on Derivative Chromosome 9 was associated with both short OS and EFS. We conclude that deletion of not only the ABL gene, but also of the BCR gene, is a poor prognostic marker that indicates rapid disease

  • Deletion of Any of BCR or ABL Gene on Derivative Chromosome 9 Is a Poor Prognostic Marker That Indicates Rapid Disease Progression in Chronic Myelogenous Leukemia.
    Blood, 2005
    Co-Authors: Young Kyung Lee, Young Ree Kim, Han Ik Cho, Sung-soo Yoon, Hyunchul Kim, Cha Ja She, Youngsoo Kim, Yun-song Lee, Dong Soon Lee
    Abstract:

    To evaluate the prognostic significance of the submicroscopic deletions of ABL or BCR gene associated with t(9;22) in CML, we investigated the incidence of ABL or BCR deletion on Derivative Chromosome 9 using fluorescent in situ hybridization (FISH), and analyzed the survival. FISH was performed using LSI BCR/ABL , dual fusion translocation probe on bone marrow cells of 86 patients with CML. Of 86 patients, ABL deletion was detected in 13 (15.1%) patients and BCR deletion in 8 patients (9.3%). Patients with ABL deletion showed shorter event-free survival time (EFS) than those without ABL deletion ( P =0.020). Patients with BCR deletion showed significantly short overall survival time (OS) ( P =0.039). Patients with ABL and/or BCR deletion (14/86 patients, 16.3%) showed significantly short OS and EFS (median OS: 43.0 months, median EFS: 40.0 months), compared to the patients without any deletions of BCR or ABL gene (median OS: 94.0 months, median EFS: 90.0 months)( P =0.041 for OS, P =0.008 for EFS). Patients with BCR deletion, all except one had a concomitant ABL deletion, suggesting that BCR deletion occurs in conjunction with ABL deletion. In patients with ABL deletion only, BCR/ABL rearrangement with b2a2 mRNA type tended to be more frequent than in patients without any deletion of the two genes ( P =0.073). Deletion of any of BCR or ABL gene on Derivative Chromosome 9 was associated with both short OS and EFS. We conclude that deletion of not only ABL gene, but also BCR gene is a poor prognostic marker that indicates rapid disease progression in CML.

  • A study on the incidence of ABL gene deletion on Derivative Chromosome 9 in chronic myelogenous leukemia by interphase fluorescence in situ hybridization and its association with disease progression.
    Genes Chromosomes and Cancer, 2003
    Co-Authors: Dong Soon Lee, Young Ree Kim, Sung-soo Yoon, Young Kyung Lee, Cha Ja She, Yun-song Lee, Yeon-sook Yun, Seok San Jeong, Hae Rim Shin, Yong-soo Kim
    Abstract:

    Fluorescence in situ hybridization for the BCR/ABL rearrangement in 138 bone marrow specimens from 59 Philadelphia(+) (Ph(+)) chronic myelogenous leukemia (CML) patients, 35 Ph(+) acute lymphoblastic leukemia (ALL) patients, and 57 Ph(-) ALL patients was used. Sixteen (27.1%) of the 59 CML patients had deletions of the residual ABL gene on the Derivative Chromosome 9. During the study period, 32 of the 59 CML patients progressed to blast crisis or accelerated phase. Of these, nine patients had residual ABL gene deletions on the Derivative Chromosomes 9 and 23 patients had no deletions. The mean duration from first diagnosis to blast crisis or accelerated phase for the nine patients with ABL deletions was 32.8 months, and for the 23 patients without ABL deletions, it was 62.4 months (P = 0.017). The overall survival time for the 16 patients with deletions was 32.8 months, and for the 43 patients without deletions, it was 60.1 months (P = 0.164). ABL deletions were not detected among the 35 ALL patients (17 with major BCR/ABL, 18 with minor BCR/ABL), and it appears that this deletion occurs rarely or not at all in Ph(+) ALL patients, which is in contrast to the CML patients (27.1%). However, we detected two ALL cases with ABL deletion but without BCR/ABL rearrangement among 49 Ph(-) ALL and 66 Ph(-) AML patients. In conclusion, patients with ABL deletions progress to blast crisis or accelerated phase in a significantly shorter time than do those without such deletions. It is therefore suggested that the ABL deletion is an indicator of a poor prognosis in CML.

  • clinical implication of the deletion status of abl bcr on Derivative Chromosome 9 in chronic myelogenous leukemia
    Korean Journal of Laboratory Medicine, 2002
    Co-Authors: Young Kyung Lee, Young Ree Kim, Sung-soo Yoon, Dong Soon Lee, Cha Ja She, Seon Yang Park, Byoung Kook Kim, Han Ik Cho
    Abstract:

    Background : The complementary ABL-BCR gene rearrangement is formed at Chromosome 9 parallel to the Ph Chromosome at der(22)t(9;22), which has been found deleted in a minority of chronic myelogenous leukemia (CML) patients. This study was designed to analyze the deletion status of ABL and/or BCR on Derivative Chromosome 9 and to evaluate the prognostic significance of the deletion of these genes in CML. Methods : We studied 79 patients who were diagnosed as CML at Seoul National University Hospital between January 1997 and February 2002. The deletion status of ABL and BCR on Derivative Chromosome 9 was investigated by interphase fluorescent in situ hybridization (FISH) method. Results : ABL deletion was detected in 14 (17.7%) patients and BCR deletion was observed in 8 patients (10.1%). Event-free survival time of the patients with ABL and/or BCR deletion (19.0%) was shorter than that of the patients without any deletion of these two genes (median, 40.0 months vs. 92.0 months)(P=0.027). Twenty seven patients progressed to blast crisis in this period. The period to blast crisis was also shorter in 8 patients with ABL and/or BCR deletion than in 19 patients without any gene deletion (P=0.044). The b2a2 mRNA type was more frequent in the patients with ABL deletion only than in the patients without any gene deletion (P=0.034). Conclusions : Event-free survival time and the period to blast crisis were significantly shorter in patients with deletion of ABL and/or BCR on Derivative Chromosome 9. ABL and/or BCR deletion can be a significant prognostic marker that indicates rapid disease progression.

Francesco Albano - One of the best experts on this subject based on the ideXlab platform.

  • deletions of the Derivative Chromosome 9 do not influence the response and the outcome of chronic myeloid leukemia in early chronic phase treated with imatinib mesylate gimema cml working party analysis
    Journal of Clinical Oncology, 2010
    Co-Authors: Fausto Castagnetti, Nicoletta Testoni, Simona Luatti, Giulia Marzocchi, Marco Mancini, Simonetta Kerim, Emilia Giugliano, Francesco Albano, Antonio Cuneo, Elisabetta Abruzzese
    Abstract:

    Purpose Deletions of the Derivative Chromosome 9 [der(9)] have been associated with a poor prognosis in chronic myeloid leukemia (CML) across different treatment modalities. In the imatinib era, the prognostic impact of der(9) deletions has been evaluated mainly in patients with late chronic-phase (CP) CML, giving partially conflicting results. Few data are available in the early CP setting. For this reason, in 2006, the European LeukemiaNet recommendations still considered der(9) deletions as a candidate adverse prognostic factor and required a careful monitoring of the patient. Patients and Methods To investigate the prognostic value of der(9) deletions in early CP CML, we performed an analysis of three prospective imatinib trials of the Italian Group for Hematological Malignancies of the Adult (GIMEMA) CML Working Party. Results A fluorescent in situ hybridization (FISH) analysis of bone marrow cells was performed at diagnosis; der(9) deletions were detected in 60 (12%) of 521 evaluable patients. At 60...

  • Derivative Chromosome 9 deletions in chronic myeloid leukemia are associated with loss of tumor suppressor genes
    Leukemia & Lymphoma, 2004
    Co-Authors: Giorgina Specchia, Francesco Albano, Luisa Anelli, Clelia Tiziana Storlazzi, Antonella Zagaria, Arcangelo Liso, Alessandra Pannunzio, Domenico Pastore, Anna Mestice, Giuseppina Greco
    Abstract:

    It has recently been postulated that the absence of a single tumor suppressor gene (TSG) allele can provide a selective advantage for an emerging tumor cell. We have characterized the precise extension of the deletion on der(9) in 20 chronic myeloid leukemia (CML) cases using FISH analysis with an appropriate set of BAC/PAC probes to attempt a better definition of TSGs encompassed by these genomic deletions. Chromosome 9 deletions on the der(9) were detected in 15 (75%) cases; the TSG PTGES gene was lost in 11 (73%) cases. Chromosome 22 deletions on der(9) were found in 18 (90%) of the analysed cases; two TSGs were found located inside the deleted sequences of Chromosome 22: SMARCB1 and GSTT1. These TSGs were found deleted in 16 (89%) cases bearing deletions of Chromosome 22. Fourteen (70%) patients were treated with IFN-α therapy: 12 did not obtain complete haematologic remission (CHR) and 2 were not evaluable for response. Therefore, the patients did not respond to the IFN-α treatment started Glivec obt...

Carolyn N Schanen - One of the best experts on this subject based on the ideXlab platform.

  • multiple forms of atypical rearrangements generating supernumerary Derivative Chromosome 15
    BMC Genetics, 2008
    Co-Authors: Nicholas J Wang, Alexander S Parokonny, Karen N Thatcher, Jennette Driscoll, Barbara M Malone, Naghmeh Dorrani, Marian Sigman, Janine M Lasalle, Carolyn N Schanen
    Abstract:

    Maternally-derived duplications that include the imprinted region on the proximal long arm of Chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectrum disorders[1]. The duplications most often take the form of a supernumerary pseudodicentric Derivative Chromosome 15 [der(15)] that has been called inverted duplication 15 or isodicentric 15 [idic(15)], although interstitial rearrangements also occur. Similar to the deletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be mediated by unequal homologous recombination involving low copy repeats (LCR) that are found clustered in the region. Five recurrent breakpoints have been described in most cases of segmental aneuploidy of Chromosome 15q11-q13 and previous studies have shown that most idic(15) Chromosomes arise through BP3:BP3 or BP4:BP5 recombination events. Here we describe four duplication Chromosomes that show evidence of atypical recombination events that involve regions outside the common breakpoints. Additionally, in one patient with a mosaic complex der(15), we examined homologous pairing of Chromosome 15q11-q13 alleles by FISH in a region of frontal cortex, which identified mosaicism in this tissue and also demonstrated pairing of the signals from the der(15) and the normal homologues. Involvement of atypical BP in the generation of idic(15) Chromosomes can lead to considerable structural heterogeneity.

Giuseppina Greco - One of the best experts on this subject based on the ideXlab platform.

  • Derivative Chromosome 9 deletions in chronic myeloid leukemia are associated with loss of tumor suppressor genes
    Leukemia & Lymphoma, 2004
    Co-Authors: Giorgina Specchia, Francesco Albano, Luisa Anelli, Clelia Tiziana Storlazzi, Antonella Zagaria, Arcangelo Liso, Alessandra Pannunzio, Domenico Pastore, Anna Mestice, Giuseppina Greco
    Abstract:

    It has recently been postulated that the absence of a single tumor suppressor gene (TSG) allele can provide a selective advantage for an emerging tumor cell. We have characterized the precise extension of the deletion on der(9) in 20 chronic myeloid leukemia (CML) cases using FISH analysis with an appropriate set of BAC/PAC probes to attempt a better definition of TSGs encompassed by these genomic deletions. Chromosome 9 deletions on the der(9) were detected in 15 (75%) cases; the TSG PTGES gene was lost in 11 (73%) cases. Chromosome 22 deletions on der(9) were found in 18 (90%) of the analysed cases; two TSGs were found located inside the deleted sequences of Chromosome 22: SMARCB1 and GSTT1. These TSGs were found deleted in 16 (89%) cases bearing deletions of Chromosome 22. Fourteen (70%) patients were treated with IFN-α therapy: 12 did not obtain complete haematologic remission (CHR) and 2 were not evaluable for response. Therefore, the patients did not respond to the IFN-α treatment started Glivec obt...

Ying Zou - One of the best experts on this subject based on the ideXlab platform.

  • stable transmission of complex chromosomal rearrangements involving Chromosome 1q derived from constitutional chromoanagenesis
    Molecular Cytogenetics, 2019
    Co-Authors: Mary A Gudipati, Elizabeth Waters, Carol L Greene, Nidhi Goel, Nicole L Hoppman, Beth A Pitel, Matthew Webley, Ying Zou
    Abstract:

    Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular events. The complexity of these rearrangements and the original descriptions in cancer cells initially led to the assumption that it was an acquired anomaly. While rare, these phenomena involving Chromosome 1 have been reported a few individuals in a constitutional setting. Here, we describe a newborn baby who was initially referred for cytogenetic testing for multiple congenital anomalies including cystic encephalomalacia, patent ductus arteriosus, inguinal hernia, and bilateral undescended testicles. Chromosome analysis was performed and revealed a Derivative Chromosome 1 with an 1q24-q31 segment inserted into 1q42.13 resulting in gain of 1q24-q31. Whole genome SNP microarray analysis showed a complex pattern of copy number variants with four gains and one loss involving 1q24-q31. Mate pair next-generation sequencing analysis revealed 18 Chromosome breakpoints, six gains along an 1q24-q31 segment, one deletion of 1q31.3 segment and one deletion of 1q42.13 segment, which is strongly evocative of a chromoanasynthesis event for developing this complex rearrangement. Parental Chromosome analyses were performed and showed the same Derivative Chromosome 1 in the mother. To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving Chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex Chromosome rearrangements.

  • Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia
    BMC, 2017
    Co-Authors: Rima Koka, Najeebah A. Bade, Edward A. Sausville, Yi Ning, Ying Zou
    Abstract:

    Abstract Background ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Case presentation Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a Derivative Chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia Chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array. Conclusions We present a novel Derivative Chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia Chromosome 22 with BCR-ABL1 gene amplification. This is a unique pattern of BCR-ABL fusion which has never been described in T-ALL. It is significant that the patient responded to standard treatment with the CALGB 10403 protocol and supplementation with a tyrosine kinase inhibitor. Identification of additional patients with this pattern of BCR-ABL fusion will allow for enhanced risk assessment and prognostication