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The Korean Journal of Laboratory Medicine ; : 585-590, 2010.
Article Dans Anglais | WPRIM | ID: wpr-108481

Résumé

In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.


Sujets)
Femelle , Humains , Adulte d'âge moyen , Cellules de la moelle osseuse/cytologie , Délétion de segment de chromosome , Chromosomes humains de la paire 1 , Chromosomes humains de la paire 19 , Chromosomes humains de la paire 22 , Chromosomes humains de la paire 9 , Protéines de fusion bcr-abl/génétique , Hybridation fluorescente in situ , Caryotypage , Leucémie-lymphome lymphoblastique à précurseurs B/diagnostic , Translocation génétique
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