Dataset Information

Double Philadelphia Chromosomes- A Rare, Yet an Important Cytogenetic Phenomenon of Prognostic Significance in De Novo Acute Lymphoblastic Leukemia.

ABSTRACT: Presence of additional copies of Philadelphia chromosome (Ph) is characteristic of chronic myeloid leukemia in blast crisis, very rarely observed in de novo acute lymphoblastic leukemia (ALL). Ph positive (Ph+ve) ALL and CML in lymphoid blast crisis (CML-LBC) are biologically different with divergent clinical course. Double Ph+ve ALL has little data available as to its incidence and prognostic significance. We studied five cases of Ph+ve precursor B-cell ALL having an extra copy of Ph chromosome with regard to their clinical and laboratory features. An extensive review of literature was done on prognostic significance and molecular aspects of double Ph in ALL. The study confirms that double Ph was a rare phenomenon in precursor B-cell ALL. It is observed that molecular basis of double Ph positive ALL is less understood compared to CML in blast crisis. The study highlights fundamental role of cytogenetic and molecular studies in diagnosis and management of these patients. Long-term follow-up studies on a larger group of patients are required to understand the prognostic impact of extra Ph in Ph+ve ALL, which is usually resistant to standard chemotherapeutic regimen and often requiring bone marrow transplantation.

Supplementary information

The online version contains supplementary material available at 10.1007/s12288-022-01525-1.

SUBMITTER: Siddappa S

PROVIDER: S-EPMC9569261 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Double Philadelphia Chromosomes- A Rare, Yet an Important Cytogenetic Phenomenon of Prognostic Significance in De Novo Acute Lymphoblastic Leukemia.

Siddappa Shanthala S Hassan Syed Adil SA Lingappa Kavitha B KB Prasannakumari Rajeev L K LK Padma M M Dasappa Lokanatha L

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 20220416 4

Presence of additional copies of Philadelphia chromosome (Ph) is characteristic of chronic myeloid leukemia in blast crisis, very rarely observed in de novo acute lymphoblastic leukemia (ALL). Ph positive (Ph+ve) ALL and CML in lymphoid blast crisis (CML-LBC) are biologically different with divergent clinical course. Double Ph+ve ALL has little data available as to its incidence and prognostic significance. We studied five cases of Ph+ve precursor B-cell ALL having an extra copy of Ph chromosome ...[more]

PMID: 36258729

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Project description:BackgroundHuman artificial chromosomes (HACs) are potentially useful vectors for gene transfer studies and for functional annotation of the genome because of their suitability for cloning, manipulating and transferring large segments of the genome. However, development of HACs for the transfer of large genomic loci into mammalian cells has been limited by difficulties in manipulating high-molecular weight DNA, as well as by the low overall frequencies of de novo HAC formation. Indeed, to date, only a small number of large (>100 kb) genomic loci have been reported to be successfully packaged into de novo HACs.ResultsWe have developed novel methodologies to enable efficient assembly of HAC vectors containing any genomic locus of interest. We report here the creation of a novel, bimolecular system based on bacterial artificial chromosomes (BACs) for the construction of HACs incorporating any defined genomic region. We have utilized this vector system to rapidly design, construct and validate multiple de novo HACs containing large (100-200 kb) genomic loci including therapeutically significant genes for human growth hormone (HGH), polycystic kidney disease (PKD1) and beta-globin. We report significant differences in the ability of different genomic loci to support de novo HAC formation, suggesting possible effects of cis-acting genomic elements. Finally, as a proof of principle, we have observed sustained beta-globin gene expression from HACs incorporating the entire 200 kb beta-globin genomic locus for over 90 days in the absence of selection.ConclusionTaken together, these results are significant for the development of HAC vector technology, as they enable high-throughput assembly and functional validation of HACs containing any large genomic locus. We have evaluated the impact of different genomic loci on the frequency of HAC formation and identified segments of genomic DNA that appear to facilitate de novo HAC formation. These genomic loci may be useful for identifying discrete functional elements that may be incorporated into future generations of HAC vectors.

Dataset Information

Double Philadelphia Chromosomes- A Rare, Yet an Important Cytogenetic Phenomenon of Prognostic Significance in De Novo Acute Lymphoblastic Leukemia.

Supplementary information

Publications

Double Philadelphia Chromosomes- A Rare, Yet an Important Cytogenetic Phenomenon of Prognostic Significance in De Novo Acute Lymphoblastic Leukemia.

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