The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform

Zhenya Tang - One of the best experts on this subject based on the ideXlab platform.

  • donor cell derived acute myeloid leukaemia with 3q26 2 involvement MECOM rearrangement a case report and literature review
    OBM Transplantation, 2020
    Co-Authors: Wei Wang, Zhenya Tang, Guilin Tang, Gokce Altay Toruner, Joseph D Khoury, Ming Zhao, Steven Sfamenos, Jeffrey L Medeiros
    Abstract:

    Donor cell-derived leukaemia (DCL) is an uncommon complication of allogeneic hematopoietic stem cell transplantation (HSCT). DCL might represent up to 5% of the post-HSCT disease relapses, but case numbers reported in the literature might underestimate the frequency. The leukemogenesis of DCL is not well understood due to the limited numbers of cases reported and lack of detailed molecular genetic information from recipients and donors. Although many theories have been proposed for leukemogenesis of DCL, the underlying molecular genetic mechanism are likely heterogeneous. Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. We also reviewed the literature of previously described DCL cases, and we discussed the risk factors that might be important to the onset of DCL.

  • data on MECOM rearrangement driven chromosomal aberrations in myeloid malignancies
    Data in Brief, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract Data in this article presents the results of conventional cytogenetics and fluorescence in situ hybridization (FISH) analyses in 129 patients with confirmed MECOM rearrangement ( https://doi.org/10.1016/j.cancergen.2019.03.002 ) [1]. Generally, the MECOM rearrangement has arisen through translocation, inversion, and insertion and/or unknown mechanism. In addition to the typical chromosomal aberrations, inv(3)(q21q26.2) and t(3; 3)(q21; q26.6) [2–4], over 50% of cases presented here exhibit a wide spectrum of MECOM rearrangement-driven, atypical chromosomal aberrations, including inv(3) with breakpoint other than 3q21; t(1; 3); t(2; 3); t(3; 6); t(3; 8); t(3; 12); t(3; 17); t(3; 21) as well as an insertion of 3q26.2 into different chromosomes. These cases are thoroughly characterized by karyotyping, interphase-, metaphase-, map-back FISH and whole chromosomal painting (WCP) analyses.

  • deciphering the complexities of MECOM rearrangement driven chromosomal aberrations
    Cancer Genetics and Cytogenetics, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract MECOM rearrangement is associated with rapid disease progression and poor prognosis in myeloid neoplasms. Previous studies were often based on 3q26.2 abnormalities without confirmation of MECOM status. The frequency of MECOM rearrangement and attribution of various chromosomal aberrations remain poorly characterized. This study presented 129 cases with confirmed MECOM rearrangement by karyotyping and multiple FISH methodologies. MECOM rearrangement arose through translocation (49.6%, n = 64), inversion (40.3%, n = 52), insertion (5.4%, n = 7) or unknown mechanism(s) (4.7%, n = 6). The classic inv(3)(q21q26.2) was dominant (n = 50) in inversion-driven MECOM rearrangement; and 3 of them also had double inv(3). For translocation-driven MECOM rearrangement, t(3;21) was most common (n = 15), followed by t(2;3) (n = 13), t(3;12) (n = 10), t(3;3) (n = 9), t(3;8) (n = 6), t(3;6) and t(3;17) (n = 4 each), t(1;3) and t(3;?) (n = 1 each). Cases with t(3;3)-, t(3;12)-, and insertion-driven MECOM rearrangement were prone to exhibit a complex karyotype, while cases with t(2;3)-, t(3;21)- and insertion-driven MECOM rearrangement were prone to have an “unbalanced” MECOM FISH signal pattern, likely caused by uncommon breakpoint(s) within the target of 5’MECOM probe. Therefore, atypical chromosomal aberrations and/or mechanisms are involved in MECOM rearrangement. Confirmation/exclusion of MECOM rearrangement is necessary in all cases with a 3q26.2 abnormality. (Word count: 190)

  • t 3 8 q26 2 q24 often leads to MECOM myc rearrangement and is commonly associated with therapy related myeloid neoplasms and or disease progression
    The Journal of Molecular Diagnostics, 2019
    Co-Authors: Guilin Tang, Pei Lin, Gokce Altay Toruner, Jeffrey L Medeiros, Sa A Wang, Wei Xie, Ming Zhao, Madison Doty, Zhenya Tang
    Abstract:

    t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. Of 20 patients with t(3;8)(q26.2,q24), 8 had therapy-related acute myeloid leukemia (AML), 3 therapy-related myelodysplastic syndrome, 4 blast phase of chronic myeloid leukemia, 1 relapsed AML, 1 AML transformed from chronic myelomonocytic leukemia, 1 blast phase of an unclassifiable myeloproliferative neoplasm, 1 de novo myelodysplastic syndrome, and 1 de novo AML. Nineteen patients presented with cytopenia. Multilineage dysplasia was observed in 16/18 patients, and megakaryocytes were markedly decreased in 11/20 patients. Blasts showed a primitive myeloid immunophenotype in 17 patients, negative for myeloperoxidasein in 14/17, and aberrant CD7 expression in 5/17 patients. Fluorescence in situ hybridization showed MECOM rearrangement in 18/19 and MYC in 16/18 patients. Myc was shown to be expressed in all 14 cases assessed. Gene mutation testing was performed in 14 patients, and 7 showed at least one mutation including ASXL1 (2/6), TET2 (2/6), SRSF2 (2/6), and NRAS (2/13). At last clinical follow-up, 18 patients died and 2 were alive with persistent disease, with a median survival of 6 months. The authors conclude that t(3;8)(q26.2;q24) often leads to MECOM and MYC rearrangement, occurs predominantly in therapy-related myeloid neoplasms or at disease progression, and shares some similarities with myeloid neoplasms associated with inv(3)/GATA2-MECOM. Patients with myeloid neoplasms associated with t(3;8)(q26.2;q24) have a dismal outcome.

Jeffrey L Medeiros - One of the best experts on this subject based on the ideXlab platform.

  • donor cell derived acute myeloid leukaemia with 3q26 2 involvement MECOM rearrangement a case report and literature review
    OBM Transplantation, 2020
    Co-Authors: Wei Wang, Zhenya Tang, Guilin Tang, Gokce Altay Toruner, Joseph D Khoury, Ming Zhao, Steven Sfamenos, Jeffrey L Medeiros
    Abstract:

    Donor cell-derived leukaemia (DCL) is an uncommon complication of allogeneic hematopoietic stem cell transplantation (HSCT). DCL might represent up to 5% of the post-HSCT disease relapses, but case numbers reported in the literature might underestimate the frequency. The leukemogenesis of DCL is not well understood due to the limited numbers of cases reported and lack of detailed molecular genetic information from recipients and donors. Although many theories have been proposed for leukemogenesis of DCL, the underlying molecular genetic mechanism are likely heterogeneous. Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. We also reviewed the literature of previously described DCL cases, and we discussed the risk factors that might be important to the onset of DCL.

  • data on MECOM rearrangement driven chromosomal aberrations in myeloid malignancies
    Data in Brief, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract Data in this article presents the results of conventional cytogenetics and fluorescence in situ hybridization (FISH) analyses in 129 patients with confirmed MECOM rearrangement ( https://doi.org/10.1016/j.cancergen.2019.03.002 ) [1]. Generally, the MECOM rearrangement has arisen through translocation, inversion, and insertion and/or unknown mechanism. In addition to the typical chromosomal aberrations, inv(3)(q21q26.2) and t(3; 3)(q21; q26.6) [2–4], over 50% of cases presented here exhibit a wide spectrum of MECOM rearrangement-driven, atypical chromosomal aberrations, including inv(3) with breakpoint other than 3q21; t(1; 3); t(2; 3); t(3; 6); t(3; 8); t(3; 12); t(3; 17); t(3; 21) as well as an insertion of 3q26.2 into different chromosomes. These cases are thoroughly characterized by karyotyping, interphase-, metaphase-, map-back FISH and whole chromosomal painting (WCP) analyses.

  • deciphering the complexities of MECOM rearrangement driven chromosomal aberrations
    Cancer Genetics and Cytogenetics, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract MECOM rearrangement is associated with rapid disease progression and poor prognosis in myeloid neoplasms. Previous studies were often based on 3q26.2 abnormalities without confirmation of MECOM status. The frequency of MECOM rearrangement and attribution of various chromosomal aberrations remain poorly characterized. This study presented 129 cases with confirmed MECOM rearrangement by karyotyping and multiple FISH methodologies. MECOM rearrangement arose through translocation (49.6%, n = 64), inversion (40.3%, n = 52), insertion (5.4%, n = 7) or unknown mechanism(s) (4.7%, n = 6). The classic inv(3)(q21q26.2) was dominant (n = 50) in inversion-driven MECOM rearrangement; and 3 of them also had double inv(3). For translocation-driven MECOM rearrangement, t(3;21) was most common (n = 15), followed by t(2;3) (n = 13), t(3;12) (n = 10), t(3;3) (n = 9), t(3;8) (n = 6), t(3;6) and t(3;17) (n = 4 each), t(1;3) and t(3;?) (n = 1 each). Cases with t(3;3)-, t(3;12)-, and insertion-driven MECOM rearrangement were prone to exhibit a complex karyotype, while cases with t(2;3)-, t(3;21)- and insertion-driven MECOM rearrangement were prone to have an “unbalanced” MECOM FISH signal pattern, likely caused by uncommon breakpoint(s) within the target of 5’MECOM probe. Therefore, atypical chromosomal aberrations and/or mechanisms are involved in MECOM rearrangement. Confirmation/exclusion of MECOM rearrangement is necessary in all cases with a 3q26.2 abnormality. (Word count: 190)

  • t 3 8 q26 2 q24 often leads to MECOM myc rearrangement and is commonly associated with therapy related myeloid neoplasms and or disease progression
    The Journal of Molecular Diagnostics, 2019
    Co-Authors: Guilin Tang, Pei Lin, Gokce Altay Toruner, Jeffrey L Medeiros, Sa A Wang, Wei Xie, Ming Zhao, Madison Doty, Zhenya Tang
    Abstract:

    t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. Of 20 patients with t(3;8)(q26.2,q24), 8 had therapy-related acute myeloid leukemia (AML), 3 therapy-related myelodysplastic syndrome, 4 blast phase of chronic myeloid leukemia, 1 relapsed AML, 1 AML transformed from chronic myelomonocytic leukemia, 1 blast phase of an unclassifiable myeloproliferative neoplasm, 1 de novo myelodysplastic syndrome, and 1 de novo AML. Nineteen patients presented with cytopenia. Multilineage dysplasia was observed in 16/18 patients, and megakaryocytes were markedly decreased in 11/20 patients. Blasts showed a primitive myeloid immunophenotype in 17 patients, negative for myeloperoxidasein in 14/17, and aberrant CD7 expression in 5/17 patients. Fluorescence in situ hybridization showed MECOM rearrangement in 18/19 and MYC in 16/18 patients. Myc was shown to be expressed in all 14 cases assessed. Gene mutation testing was performed in 14 patients, and 7 showed at least one mutation including ASXL1 (2/6), TET2 (2/6), SRSF2 (2/6), and NRAS (2/13). At last clinical follow-up, 18 patients died and 2 were alive with persistent disease, with a median survival of 6 months. The authors conclude that t(3;8)(q26.2;q24) often leads to MECOM and MYC rearrangement, occurs predominantly in therapy-related myeloid neoplasms or at disease progression, and shares some similarities with myeloid neoplasms associated with inv(3)/GATA2-MECOM. Patients with myeloid neoplasms associated with t(3;8)(q26.2;q24) have a dismal outcome.

Guilin Tang - One of the best experts on this subject based on the ideXlab platform.

  • donor cell derived acute myeloid leukaemia with 3q26 2 involvement MECOM rearrangement a case report and literature review
    OBM Transplantation, 2020
    Co-Authors: Wei Wang, Zhenya Tang, Guilin Tang, Gokce Altay Toruner, Joseph D Khoury, Ming Zhao, Steven Sfamenos, Jeffrey L Medeiros
    Abstract:

    Donor cell-derived leukaemia (DCL) is an uncommon complication of allogeneic hematopoietic stem cell transplantation (HSCT). DCL might represent up to 5% of the post-HSCT disease relapses, but case numbers reported in the literature might underestimate the frequency. The leukemogenesis of DCL is not well understood due to the limited numbers of cases reported and lack of detailed molecular genetic information from recipients and donors. Although many theories have been proposed for leukemogenesis of DCL, the underlying molecular genetic mechanism are likely heterogeneous. Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. We also reviewed the literature of previously described DCL cases, and we discussed the risk factors that might be important to the onset of DCL.

  • data on MECOM rearrangement driven chromosomal aberrations in myeloid malignancies
    Data in Brief, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract Data in this article presents the results of conventional cytogenetics and fluorescence in situ hybridization (FISH) analyses in 129 patients with confirmed MECOM rearrangement ( https://doi.org/10.1016/j.cancergen.2019.03.002 ) [1]. Generally, the MECOM rearrangement has arisen through translocation, inversion, and insertion and/or unknown mechanism. In addition to the typical chromosomal aberrations, inv(3)(q21q26.2) and t(3; 3)(q21; q26.6) [2–4], over 50% of cases presented here exhibit a wide spectrum of MECOM rearrangement-driven, atypical chromosomal aberrations, including inv(3) with breakpoint other than 3q21; t(1; 3); t(2; 3); t(3; 6); t(3; 8); t(3; 12); t(3; 17); t(3; 21) as well as an insertion of 3q26.2 into different chromosomes. These cases are thoroughly characterized by karyotyping, interphase-, metaphase-, map-back FISH and whole chromosomal painting (WCP) analyses.

  • deciphering the complexities of MECOM rearrangement driven chromosomal aberrations
    Cancer Genetics and Cytogenetics, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract MECOM rearrangement is associated with rapid disease progression and poor prognosis in myeloid neoplasms. Previous studies were often based on 3q26.2 abnormalities without confirmation of MECOM status. The frequency of MECOM rearrangement and attribution of various chromosomal aberrations remain poorly characterized. This study presented 129 cases with confirmed MECOM rearrangement by karyotyping and multiple FISH methodologies. MECOM rearrangement arose through translocation (49.6%, n = 64), inversion (40.3%, n = 52), insertion (5.4%, n = 7) or unknown mechanism(s) (4.7%, n = 6). The classic inv(3)(q21q26.2) was dominant (n = 50) in inversion-driven MECOM rearrangement; and 3 of them also had double inv(3). For translocation-driven MECOM rearrangement, t(3;21) was most common (n = 15), followed by t(2;3) (n = 13), t(3;12) (n = 10), t(3;3) (n = 9), t(3;8) (n = 6), t(3;6) and t(3;17) (n = 4 each), t(1;3) and t(3;?) (n = 1 each). Cases with t(3;3)-, t(3;12)-, and insertion-driven MECOM rearrangement were prone to exhibit a complex karyotype, while cases with t(2;3)-, t(3;21)- and insertion-driven MECOM rearrangement were prone to have an “unbalanced” MECOM FISH signal pattern, likely caused by uncommon breakpoint(s) within the target of 5’MECOM probe. Therefore, atypical chromosomal aberrations and/or mechanisms are involved in MECOM rearrangement. Confirmation/exclusion of MECOM rearrangement is necessary in all cases with a 3q26.2 abnormality. (Word count: 190)

  • t 3 8 q26 2 q24 often leads to MECOM myc rearrangement and is commonly associated with therapy related myeloid neoplasms and or disease progression
    The Journal of Molecular Diagnostics, 2019
    Co-Authors: Guilin Tang, Pei Lin, Gokce Altay Toruner, Jeffrey L Medeiros, Sa A Wang, Wei Xie, Ming Zhao, Madison Doty, Zhenya Tang
    Abstract:

    t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. Of 20 patients with t(3;8)(q26.2,q24), 8 had therapy-related acute myeloid leukemia (AML), 3 therapy-related myelodysplastic syndrome, 4 blast phase of chronic myeloid leukemia, 1 relapsed AML, 1 AML transformed from chronic myelomonocytic leukemia, 1 blast phase of an unclassifiable myeloproliferative neoplasm, 1 de novo myelodysplastic syndrome, and 1 de novo AML. Nineteen patients presented with cytopenia. Multilineage dysplasia was observed in 16/18 patients, and megakaryocytes were markedly decreased in 11/20 patients. Blasts showed a primitive myeloid immunophenotype in 17 patients, negative for myeloperoxidasein in 14/17, and aberrant CD7 expression in 5/17 patients. Fluorescence in situ hybridization showed MECOM rearrangement in 18/19 and MYC in 16/18 patients. Myc was shown to be expressed in all 14 cases assessed. Gene mutation testing was performed in 14 patients, and 7 showed at least one mutation including ASXL1 (2/6), TET2 (2/6), SRSF2 (2/6), and NRAS (2/13). At last clinical follow-up, 18 patients died and 2 were alive with persistent disease, with a median survival of 6 months. The authors conclude that t(3;8)(q26.2;q24) often leads to MECOM and MYC rearrangement, occurs predominantly in therapy-related myeloid neoplasms or at disease progression, and shares some similarities with myeloid neoplasms associated with inv(3)/GATA2-MECOM. Patients with myeloid neoplasms associated with t(3;8)(q26.2;q24) have a dismal outcome.

Gokce Altay Toruner - One of the best experts on this subject based on the ideXlab platform.

  • donor cell derived acute myeloid leukaemia with 3q26 2 involvement MECOM rearrangement a case report and literature review
    OBM Transplantation, 2020
    Co-Authors: Wei Wang, Zhenya Tang, Guilin Tang, Gokce Altay Toruner, Joseph D Khoury, Ming Zhao, Steven Sfamenos, Jeffrey L Medeiros
    Abstract:

    Donor cell-derived leukaemia (DCL) is an uncommon complication of allogeneic hematopoietic stem cell transplantation (HSCT). DCL might represent up to 5% of the post-HSCT disease relapses, but case numbers reported in the literature might underestimate the frequency. The leukemogenesis of DCL is not well understood due to the limited numbers of cases reported and lack of detailed molecular genetic information from recipients and donors. Although many theories have been proposed for leukemogenesis of DCL, the underlying molecular genetic mechanism are likely heterogeneous. Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. We also reviewed the literature of previously described DCL cases, and we discussed the risk factors that might be important to the onset of DCL.

  • data on MECOM rearrangement driven chromosomal aberrations in myeloid malignancies
    Data in Brief, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract Data in this article presents the results of conventional cytogenetics and fluorescence in situ hybridization (FISH) analyses in 129 patients with confirmed MECOM rearrangement ( https://doi.org/10.1016/j.cancergen.2019.03.002 ) [1]. Generally, the MECOM rearrangement has arisen through translocation, inversion, and insertion and/or unknown mechanism. In addition to the typical chromosomal aberrations, inv(3)(q21q26.2) and t(3; 3)(q21; q26.6) [2–4], over 50% of cases presented here exhibit a wide spectrum of MECOM rearrangement-driven, atypical chromosomal aberrations, including inv(3) with breakpoint other than 3q21; t(1; 3); t(2; 3); t(3; 6); t(3; 8); t(3; 12); t(3; 17); t(3; 21) as well as an insertion of 3q26.2 into different chromosomes. These cases are thoroughly characterized by karyotyping, interphase-, metaphase-, map-back FISH and whole chromosomal painting (WCP) analyses.

  • deciphering the complexities of MECOM rearrangement driven chromosomal aberrations
    Cancer Genetics and Cytogenetics, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract MECOM rearrangement is associated with rapid disease progression and poor prognosis in myeloid neoplasms. Previous studies were often based on 3q26.2 abnormalities without confirmation of MECOM status. The frequency of MECOM rearrangement and attribution of various chromosomal aberrations remain poorly characterized. This study presented 129 cases with confirmed MECOM rearrangement by karyotyping and multiple FISH methodologies. MECOM rearrangement arose through translocation (49.6%, n = 64), inversion (40.3%, n = 52), insertion (5.4%, n = 7) or unknown mechanism(s) (4.7%, n = 6). The classic inv(3)(q21q26.2) was dominant (n = 50) in inversion-driven MECOM rearrangement; and 3 of them also had double inv(3). For translocation-driven MECOM rearrangement, t(3;21) was most common (n = 15), followed by t(2;3) (n = 13), t(3;12) (n = 10), t(3;3) (n = 9), t(3;8) (n = 6), t(3;6) and t(3;17) (n = 4 each), t(1;3) and t(3;?) (n = 1 each). Cases with t(3;3)-, t(3;12)-, and insertion-driven MECOM rearrangement were prone to exhibit a complex karyotype, while cases with t(2;3)-, t(3;21)- and insertion-driven MECOM rearrangement were prone to have an “unbalanced” MECOM FISH signal pattern, likely caused by uncommon breakpoint(s) within the target of 5’MECOM probe. Therefore, atypical chromosomal aberrations and/or mechanisms are involved in MECOM rearrangement. Confirmation/exclusion of MECOM rearrangement is necessary in all cases with a 3q26.2 abnormality. (Word count: 190)

  • t 3 8 q26 2 q24 often leads to MECOM myc rearrangement and is commonly associated with therapy related myeloid neoplasms and or disease progression
    The Journal of Molecular Diagnostics, 2019
    Co-Authors: Guilin Tang, Pei Lin, Gokce Altay Toruner, Jeffrey L Medeiros, Sa A Wang, Wei Xie, Ming Zhao, Madison Doty, Zhenya Tang
    Abstract:

    t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. Of 20 patients with t(3;8)(q26.2,q24), 8 had therapy-related acute myeloid leukemia (AML), 3 therapy-related myelodysplastic syndrome, 4 blast phase of chronic myeloid leukemia, 1 relapsed AML, 1 AML transformed from chronic myelomonocytic leukemia, 1 blast phase of an unclassifiable myeloproliferative neoplasm, 1 de novo myelodysplastic syndrome, and 1 de novo AML. Nineteen patients presented with cytopenia. Multilineage dysplasia was observed in 16/18 patients, and megakaryocytes were markedly decreased in 11/20 patients. Blasts showed a primitive myeloid immunophenotype in 17 patients, negative for myeloperoxidasein in 14/17, and aberrant CD7 expression in 5/17 patients. Fluorescence in situ hybridization showed MECOM rearrangement in 18/19 and MYC in 16/18 patients. Myc was shown to be expressed in all 14 cases assessed. Gene mutation testing was performed in 14 patients, and 7 showed at least one mutation including ASXL1 (2/6), TET2 (2/6), SRSF2 (2/6), and NRAS (2/13). At last clinical follow-up, 18 patients died and 2 were alive with persistent disease, with a median survival of 6 months. The authors conclude that t(3;8)(q26.2;q24) often leads to MECOM and MYC rearrangement, occurs predominantly in therapy-related myeloid neoplasms or at disease progression, and shares some similarities with myeloid neoplasms associated with inv(3)/GATA2-MECOM. Patients with myeloid neoplasms associated with t(3;8)(q26.2;q24) have a dismal outcome.

Pei Lin - One of the best experts on this subject based on the ideXlab platform.

  • data on MECOM rearrangement driven chromosomal aberrations in myeloid malignancies
    Data in Brief, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract Data in this article presents the results of conventional cytogenetics and fluorescence in situ hybridization (FISH) analyses in 129 patients with confirmed MECOM rearrangement ( https://doi.org/10.1016/j.cancergen.2019.03.002 ) [1]. Generally, the MECOM rearrangement has arisen through translocation, inversion, and insertion and/or unknown mechanism. In addition to the typical chromosomal aberrations, inv(3)(q21q26.2) and t(3; 3)(q21; q26.6) [2–4], over 50% of cases presented here exhibit a wide spectrum of MECOM rearrangement-driven, atypical chromosomal aberrations, including inv(3) with breakpoint other than 3q21; t(1; 3); t(2; 3); t(3; 6); t(3; 8); t(3; 12); t(3; 17); t(3; 21) as well as an insertion of 3q26.2 into different chromosomes. These cases are thoroughly characterized by karyotyping, interphase-, metaphase-, map-back FISH and whole chromosomal painting (WCP) analyses.

  • deciphering the complexities of MECOM rearrangement driven chromosomal aberrations
    Cancer Genetics and Cytogenetics, 2019
    Co-Authors: Zhenya Tang, Guilin Tang, Keyur P Patel, Cheng Cameron Yin, Wei Wang, Pei Lin, Gokce Altay Toruner, Joseph D Khoury, Jeffrey L Medeiros
    Abstract:

    Abstract MECOM rearrangement is associated with rapid disease progression and poor prognosis in myeloid neoplasms. Previous studies were often based on 3q26.2 abnormalities without confirmation of MECOM status. The frequency of MECOM rearrangement and attribution of various chromosomal aberrations remain poorly characterized. This study presented 129 cases with confirmed MECOM rearrangement by karyotyping and multiple FISH methodologies. MECOM rearrangement arose through translocation (49.6%, n = 64), inversion (40.3%, n = 52), insertion (5.4%, n = 7) or unknown mechanism(s) (4.7%, n = 6). The classic inv(3)(q21q26.2) was dominant (n = 50) in inversion-driven MECOM rearrangement; and 3 of them also had double inv(3). For translocation-driven MECOM rearrangement, t(3;21) was most common (n = 15), followed by t(2;3) (n = 13), t(3;12) (n = 10), t(3;3) (n = 9), t(3;8) (n = 6), t(3;6) and t(3;17) (n = 4 each), t(1;3) and t(3;?) (n = 1 each). Cases with t(3;3)-, t(3;12)-, and insertion-driven MECOM rearrangement were prone to exhibit a complex karyotype, while cases with t(2;3)-, t(3;21)- and insertion-driven MECOM rearrangement were prone to have an “unbalanced” MECOM FISH signal pattern, likely caused by uncommon breakpoint(s) within the target of 5’MECOM probe. Therefore, atypical chromosomal aberrations and/or mechanisms are involved in MECOM rearrangement. Confirmation/exclusion of MECOM rearrangement is necessary in all cases with a 3q26.2 abnormality. (Word count: 190)

  • t 3 8 q26 2 q24 often leads to MECOM myc rearrangement and is commonly associated with therapy related myeloid neoplasms and or disease progression
    The Journal of Molecular Diagnostics, 2019
    Co-Authors: Guilin Tang, Pei Lin, Gokce Altay Toruner, Jeffrey L Medeiros, Sa A Wang, Wei Xie, Ming Zhao, Madison Doty, Zhenya Tang
    Abstract:

    t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. Of 20 patients with t(3;8)(q26.2,q24), 8 had therapy-related acute myeloid leukemia (AML), 3 therapy-related myelodysplastic syndrome, 4 blast phase of chronic myeloid leukemia, 1 relapsed AML, 1 AML transformed from chronic myelomonocytic leukemia, 1 blast phase of an unclassifiable myeloproliferative neoplasm, 1 de novo myelodysplastic syndrome, and 1 de novo AML. Nineteen patients presented with cytopenia. Multilineage dysplasia was observed in 16/18 patients, and megakaryocytes were markedly decreased in 11/20 patients. Blasts showed a primitive myeloid immunophenotype in 17 patients, negative for myeloperoxidasein in 14/17, and aberrant CD7 expression in 5/17 patients. Fluorescence in situ hybridization showed MECOM rearrangement in 18/19 and MYC in 16/18 patients. Myc was shown to be expressed in all 14 cases assessed. Gene mutation testing was performed in 14 patients, and 7 showed at least one mutation including ASXL1 (2/6), TET2 (2/6), SRSF2 (2/6), and NRAS (2/13). At last clinical follow-up, 18 patients died and 2 were alive with persistent disease, with a median survival of 6 months. The authors conclude that t(3;8)(q26.2;q24) often leads to MECOM and MYC rearrangement, occurs predominantly in therapy-related myeloid neoplasms or at disease progression, and shares some similarities with myeloid neoplasms associated with inv(3)/GATA2-MECOM. Patients with myeloid neoplasms associated with t(3;8)(q26.2;q24) have a dismal outcome.