RESUMO
ABSTRACTThe Philadelphia (Ph) chromosome results from the formation of breakpoint cluster region (BCR)-Abelson 1 (ABL1) fusion gene (BCR-ABL1). The most common type of adult acute lymphoblastic leukaemia (ALL) is Ph chromosome-positive (Ph+); Ph+ ALL has an incidence of 25%â¼30%. Several types of BCR-ABL1 fusion transcripts have been reported, including e1a2, e13a2 and e14a2. In addition, some rare BCR-ABL1 transcripts, such as e1a3, have been reported in chronic myeloid leukaemia. However, until now, the presence of e1a3 BCR-ABL1 fusion transcripts has only been reported in a few cases of ALL. In this study, a rare e1a3 BCR-ABL1 fusion transcript was found in a patient diagnosed with Ph+ ALL. However, the patient also suffered from severe agranulocytosis with pulmonary infection and died after being transferred to the intensive care unit before the significance of the presence of e1a3 BCR-ABL1 fusion transcript could be determined. In conclusion, e1a3 BCR-ABL1 fusion transcripts related to Ph+ ALL cases need to be better identified, and appropriate treatment strategies must be designed for such cases.
Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adulto , Humanos , Cromossomo Filadélfia , Proteínas de Fusão bcr-abl/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genéticaRESUMO
Right neck swelling and pain occurred in a 49-year-old man. A Blood count showed a slight increase in platelet count without leukemoid reaction. After a biopsy of the cervical mass and bone marrow aspiration, a diagnosis of extramedullary blast crisis (EBC) of chronic myeloid leukemia (CML) was made. Fluorescence in situ hybridization (FISH) analysis showed a BCR-ABL1 fusion signal, but results of real-time polymerase chain reaction (RT-PCR) for major and minor BCR-ABL1 transcripts were negative. We identified a rare e1a3 BCR-ABL1 fusion transcript. Administration of dasatinib resulted in disappearance of the extramedullary tumor. This is the first reported case of CML-EBC with e1a3 transcript. An aleukemic extramedullary tumor can be the initial presentation of CML.
Assuntos
Crise Blástica , Leucemia Mielogênica Crônica BCR-ABL Positiva , Crise Blástica/genética , Crise Blástica/patologia , Dasatinibe/uso terapêutico , Proteínas de Fusão bcr-abl/genética , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: The occurrence of acute leukemia in patients with sickle cell anemia is uncommon. The Philadelphia chromosome is the hallmark of chronic myeloid leukemia. However, it may also be associated with acute lymphoblastic leukemia and acute myeloblastic leukemia. The common BCR-ABL1 transcripts seen in acute lymphoblastic leukemia are e1a2, e13a2, and e14a2, while other transcripts such as e1a3, e13a3, and e6a2 occur rarely. This report describes the presentation, management, and outcome of the occurrence of B-cell acute lymphoblastic leukemia with the rare e1a3 BCR-ABL1 transcript in a patient with sickle cell anemia. CASE PRESENTATION: A 19-year-old male Nigerian, a known sickle cell anemia patient was admitted on account of severe vaso-occlusive crisis. Examination revealed fever, palor, and jaundice. Full blood count showed anemia and leukocytosis. Peripheral blood and bone marrow smears revealed numerous large and small lymphoblasts in keeping with the L2 subtype of acute lymphoblastic leukemia based on the French-American-British classification. Further evaluation was in keeping with a diagnosis of BCR-ABL1-positive mature B-cell acute lymphoblastic leukemia associated with the rare e1a3 transcript. He was commenced simultaneously on induction chemotherapy and Imatinib while being prepared for allogeneic stem cell transplantation. However, he died six months after diagnosis from meningoencephalitis. CONCLUSION: The occurrence of acute lymphoblastic leukemia with a rare BCR-ABL1 e1a3 transcript in association with sickle cell anemia is uncommon and associated with poor prognosis.
Assuntos
Anemia Falciforme , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/genética , Linfócitos B , Proteínas de Fusão bcr-abl/genética , Humanos , Masculino , Nigéria , Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adulto JovemRESUMO
Chronic myelogenous leukemia (CML) results from the neoplastic transformation of a hematopoietic stem cell. CML is cytogenetically characterized by the presence of the Philadelphia chromosome (Ph'). Most patients with CML express e13a2 or e14a2 mRNAs that result from a rearrangement of the major breakpoint cluster regions (M-BCR) generating the 210-kDa (p210BCR-ABL) fusion proteins b2a2 or b3a2 respectively. The e1a3 CML-related atypical translocation has been reported with an indolent clinical course, low leukocyte count, long chronic phase even without treatment and good response to therapy. We report the case of a patient initially diagnosed as CML in chronic phase whose cells expressed the e1a3 variant. The patient readily responded to imatinib 400 mg with the achievement of a rapid complete cytogenetic response and the normalization of the blood count values, but after 5 months transformed into lymphoid blast crisis.