RESUMEN
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.
Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Células de la Médula Ósea/citología , Deleción Cromosómica , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 19 , Cromosomas Humanos Par 22 , Cromosomas Humanos Par 9 , Proteínas de Fusión bcr-abl/genética , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Translocación GenéticaRESUMEN
ider(9)(q10)t(9;22)(q34;q11.2) is an isochromosome for the long arm of a derivative chromosome 9 generated by a t(9;22), resulting from the deletion of the short arm of chromosome 9. It is known to be rarely observed in acute lymphoblastic leukemia (ALL) or lymphoblastic crisis transformed from chronic myelogenous leukemia. We herein describe a 26-year-old female patient with precursor B-cell ALL, cytogenetically characterized by ider(9)(q10)t(9;22). Fluorescence in situ hybridization analysis showed two ABL-BCR fusion signals on the derivative chromosome 9 and one BCR-ABL fusion signal on the derivative chromosome 22. Although a t(9;22) and a deletion of the short arm of chromosome 9 are known to be associated with a poor prognostic factor in acute lymphoblastic leukemia, a larger study is needed to determine the prognosis of ider(9)(q10)t(9;22) cases.
Asunto(s)
Adulto , Femenino , Humanos , Brazo , Cromosomas Humanos Par 22 , Cromosomas Humanos Par 9 , Fluorescencia , Hibridación in Situ , Isocromosomas , Leucemia Mielógena Crónica BCR-ABL Positiva , Leucemia-Linfoma Linfoblástico de Células Precursoras , Células Precursoras de Linfocitos B , PronósticoRESUMEN
Although occasional patients with chronic myeloid leukemia (CML) have chromosomal changes other than Philadelphia chromosome early in the disease, in typical cases the 9;22 translocation remains the sole abnormality throughout the disease course in chronic phase. When disease progression occurs, however, 75-80% develop additional chromosome aberrations. These secondary changes sometimes precede the more aggressive manifestations hematologically and clinically and thus may serve as valuable prognostic indicators. ider (9) (q10)t (9;22) (q34;q11.2) is very rare and a recurrent chromosomal abnormality associated with acute lymphoblastic leukemias (ALL) and lymphoblastic crisis of CML. And ider (9) (q10)t (9;22) (q34;q11.2) is a lymphoid-specific rearrangement and the patients with this abnormality are of older age on average. They commonly show pre-B cell lineage immunophenotype and L2 morphology. We report a case of ider (9) (q10)t (9;22) (q34;q11.2) as secondary aberration in a patient with lymphoblastic crisis of CML.