Description:
ACUTE LYMPHOCYTIC LEUKEMIA
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Asian
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,X,der(X;15)(15qter->15q11.2::Xp21->Xqter),t(1;19)(1pter->1q23::19p13->19pter;1qter->1q23::19p13->19qter),der(2)(2pter->2q35::22q11.2->22qter),t(3;5)(3pter->3q21::5q11.2->5qter;5pter->5q11.2::3q21->3qter),der(4)(21qter->21q11.2::4p13->4qter),der(9)(11pter->11p11.2::9p24->9qter),-9,del(11)(:p11.2->qter),-21,1~2mar[cp12].arr Xp22.33p11.22(168464-52911208)x1,Xp11.22q28(53809801-155233846)x3,9p24.1(4629337-5978120)x1,9p24.1p21.2(6873321-25872682)x1,9p21.2(26433904-29413903)x1,9q21.11q21.12(71361497-72904968)x1,9q22.33q31.1(100841489-104180857)x1,11p14.3p14.2(24446355-26566581)x1,11p12p11.2(43416303-44712996)x1,22q13.1q13.33(39576855-51234443)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q23 |
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Chromosome 19: TRANSLOCATION Breakpoint 19p13 |
| Remarks |
Clinically affected with pre-B acute lymphoblastic leukemia; donor subject suffered from general fatigue and anemia at age 3 years; bone-marrow examination at age 3 years showed 99% of blasts with French-American-British L1 morphology and pre-B-cell phenotype carrying a t(1;19)(q23;p13) translocation; early bone-marrow relapse occurred despite aggressive multidrug-combined chemotherapy; donor subject died from a fungal infection less than one year after diagnosis; cell line established from donor subject's peripheral blood at relapse; cells had basophilic cytoplasm with prominent vacuoles and oval nuclei with one or more prominent nuceoli; cells were negative for peroxidase, PAS, alpha-naphthyl butyrate esterase, and naphthol ASD chloroacetate esterase activities; cells expressed CD19, CD22, HLA-DR, and CD34 antigens but were negative for CD3, CD4, CD8, CD10, CD20, CD33, and surface immunoglobulins; cells harbored cIg and a rearranged Ig heavy-chain gene; cell line had neither E2A rearrangement nor PBX1 expression; cell line had no E2A/PBX1 chimeric transcripts; cloned breakpoints of cell line fell within introns of MEF2D and DAZAP1; the chimeric transcripts MEF2D-DAZAP1 and DAZAP1-MEF2D, whose sequences indicated in-frame fusions between MEF2D and DAZAP1, were expressed in the cell line and in bone-marrow cells from the donor subject. |
| Ching T, Duncan ME, Newman-Eerkes T, McWhorter MME, Tracy JM, Steen MS, Brown RP, Venkatasubbarao S, Akers NK, Vignali M, Moorhead ME, Watson D, Emerson RO, Mann TP, Cimler BM, Swatkowski PL, Kirsch IR, Sang C, Robins HS, Howie B, Sherwood A, Analytical evaluation of the clonoSEQ Assay for establishing measurable (minimal) residual disease in acute lymphoblastic leukemia, chronic lymphocytic leukemia, and multiple myeloma BMC cancer20:612 2020 |
| PubMed ID: 32605647 |
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| Herrera L, Santos S, Vesga MA, Anguita J, Martin-Ruiz I, Carrascosa T, Juan M, Eguizabal C, Adult peripheral blood and umbilical cord blood NK cells are good sources for effective CAR therapy against CD19 positive leukemic cells Scientific reports9:18729 2019 |
| PubMed ID: 31822751 |
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| Prima V, Gore L, Caires A, Boomer T, Yoshinari M, Imaizumi M, Varella-Garcia M, Hunger SP, Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia. Leukemia19(5):806-13 2005 |
| PubMed ID: 15744350 |
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| Yuki Y, Imoto I, Imaizumi M, Hibi S, Kaneko Y, Amagasa T, Inazawa J, Identification of a novel fusion gene in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13). Cancer Sci95(6):503-7 2004 |
| PubMed ID: 15182431 |
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