Gen de fusión AML-1/ETO y mutación NPM-1A en leucemia mieloide crónica en crisis blástica mieloide / AML-1/ETO fusion gene and mutation NPM-1A in myeloid chronic leukemia in myeloid blast crisis

La leucemia mieloide crónica es una neoplasia mieloproliferativa de naturaleza clonal que generalmente y de manera progresiva transita por tres fases: crónica, acelerada y crisis blástica. Alrededor del 80 por ciento de los enfermos con leucemia mieloide crónica son diagnosticados durante la fase crónica, 10 por ciento en fase acelerada y otro 10 por ciento durante la crisis blástica. A la presencia del cromosoma Filadelfia y la formación del gen de fusión BCR/ABL, que se traduce en la proteína quimérica pBCR/ABL, le sigue una gran inestabilidad genómica y la adquisición de alteraciones cromosómicas y moleculares adicionales. Algunas alteraciones moleculares, que suelen estar presentes en otras hemopatías malignas, pueden ser adquiridas durante la progresión de la leucemia mieloide crónica a crisis blástica. Se presenta el caso de un paciente que debutó con una leucemia mieloide crónica en crisis blástica, con positividad del gen de fusión BCR/ABL, el gen de fusión AML-1/ETO y la mutación NPM-1A(AU)

Chronic myeloid leukemia is a clonal myeloproliferative neoplasm which generally and progressively goes through three phases: chronic, accelerated and blast crisis. About 80 percent of patients with chronic myeloid leukemia are diagnosed in chronic phase, 10 % in accelerated phase and 10 percent in blast crisis. The presence of Philadelphia chromosome and the formation of BCR/ABL fusion gene, resulting in the chimeric protein pBCR/ABL, generates a large genomic instability and the acquisition of additional chromosomal and molecular alterations. Some molecular alterations, which are usually present in other hematological malignancies, could be acquired during the progression of chronic myeloid leukemia to blast crisis. This report presents the case of a patient with de novo chronic myeloid leukemia in blast crisis, with positivity of BCR/ABL fusion gene, AML-1/ETO fusion gene and mutation NPM-1A(AU)

A Case of t(3;3)(q21;q26.2) Associated with Severe Multilineage Dysplasia and Multi-drug Resistance in Blastic Crisis of Chronic Myelogenous Leukemia / 대한진단검사의학회지

The t(3;3)(q21;q26.2) is known to be mainly observed in hematologic myeloid malignancies, as a form of 3q21q26 syndrome. Cytogenetic abnormalities of 3q21q26 syndrome result in RPN1-EVI1 fusion transcripts involving ecotropic viral integration site-1 (EVI1) at 3q26.2 and ribophorin I (RPN1) at 3q21, and the fusion transcripts play an important role in leukemogenesis and disease progression. They are usually associated with dysplasia, especially of megakaryocytes. Patients with these cytogenetic abnormalities show extremely poor prognosis even with aggressive anti-leukemic therapy. We report a case of blastic crisis of CML with both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) and associated severe multilineage dysplasia. The patient showed a poor response to imatinib, dasatinib and aggressive induction therapy. When both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) are observed in cases of leukemia with increased blasts, they are best considered as aggressive phases of CML with t(3;3)(q21;q26.2), rather than AML with t(9;22)(q34;q11.2) by 2008 WHO classification.

Extramedullary blast crisis in chronic myeloid leukemia--a case report.

Presence of focal poliferation of myeloblasts at an extramedullary site even when peripheral blood/bone marrow blast count is less than 20% in a case of chronic myeloid leukaemia leads to a diagnosis of blast crisis. A case of focal extramedullary blast crisis with chronic myeloid leukaemia is reported here.

Use of polyclonal anti-myeloperoxidase antibody in myeloid lineage determination.

This study reports the production of a rabbit polyclonal antibody to myeloperoxidase (MPO) and its use in ascertaining the myeloid lineage of blasts in leukaemia. Comparison of the immunocytochemical stain using the anti-MPO antibody with the routine cytochemical methodology showed that the former was more sensitive. In all subtypes of acute myeloid leukaemia (AML; 72 patients, M1-M6) greater number of MPO positive blast cells were observed by immunocytochemistry, the highest being in the promyelocytic leukaemia. It was also extremely specific for cells of the myeloid lineage as it did not react with blasts from acute lymphoblastic (50 patients) and megakaryoblastic leukaemias (1 patient). In addition, it proved most useful for the lineage determination of blasts from patients with undifferentiated acute leukaemias (AUL) and those with chronic myeloid leukaemia in blast crisis (CML-BC). Out of 8 patients of AULs, 6 were classified as acute myeloblastic leukaemia due to their reactivity to the anti-MPO antibody. Similarly, out of 12 patients of chronic myeloid leukaemia in blast crisis, blasts from 8 showed reactivity to this antibody and thus could be identified as belonging to the myeloid lineage and/or of the mixed blast crisis type.

Tetraploidia restringida a blastos bifenotípicos CD2/CD19: demostración por citometría multiparamétrica / Tetraploidy restricted biphenotypic (CD2/CD19)blast cells:demostration by multiparameter flow cytometry

Se describe el caso de un paciente masculino de 17 años de edad con leucemia aguda linfoblástica (LAL), en el que la inmunotipificación de las celulas de la médula ósea reveló el caracter bifenotípico de las células neoplásicas, al co-expresar un antígeno pan-T (CD2) con uno pan-B (CD19). La tinción simultánea del antígeno CD2 con ficoeritrina, del CD19 con isotiocianato de fluoresceína y del ácido desoxirribonucleico (ADN) con ioduro de propedio, permitió demostrar que todas las células con el fenotipo CD2+/CD19+, y solo ellas, mostraban cantidades anormales de ADN indistinguibles de la tetraploidia.Este caso podría representar el primero descrito en la literatura, en que se ha empleado el análisis simultáneo de dos antígenos de membrana y ADN en una sola preparación

Ovarian granulocytic sarcoma in chronic granulocytic leukaemia with myeloblastic crisis.

Granulocytic sarcoma is an uncommon tumour composed of granulocytic precursor cells. A rare presentation of granulocytic sarcoma of the ovary occurring in a patient with chronic granulocytic leukaemia in blastic crisis is reported.