Acute myelomonocytic leukemia (AML‐M4) and translocation t(6;9) (p23;q34): Two additional patients with prominent myelodysplasia

Horsman, Douglas E.; Kalousek, Dagmar K.

doi:10.1002/ajh.2830260109

Cited by 17 publications

(8 citation statements)

References 24 publications

(12 reference statements)

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“…The t(6;9)(p23;q34) translocation is a relatively rare non‐random chromosomal aberration associated with a specific subtype of acute myeloid leukaemia (AML) or myelodysplastic syndrome (MDS). AML with t(6;9) has been classified mostly as M2 or M4 and rarely as M1, according to the French–American–British (FAB) classification, and is characterized by a poor prognosis, which affects young adults ( Heim et al , 1986 ; Soekarman et al , 1992 ), who show occasional bone marrow basophilia ( Pearson et al , 1985 ), and many of them have a preceding or underlying myelodysplasia ( Horsman & Kalousek, 1987; Mecucci et al , 1988 ; Ferro et al , 1993 ). Recently, the dek gene in band 6p23 and the can gene in band 9q34, which are disrupted by the translocation, were isolated ( von Rindern et al , 1990 , 1992).…”

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Establishment of a novel human myeloid leukaemia cell line (FKH‐1) with t(6;9)(p23;q34) and the expression of dek‐can chimaeric transcript

et al. 1998

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Summary. Translocation t(6;9)(p23;q34), resulting in a dek-can gene fusion, is a recurrent chromosomal abnormality mainly associated with specific subtypes of acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Patients with this type of chromosomal change are usually young and their prognosis is poor. The role of fusion protein generated from dek-can chimaeric transcript on the leukaemogenesis of t(6;9) AML or MDS is as yet unknown. We have established the first permanent cell line (FKH-1) with t(6;9), derived from the peripheral blood of a patient with t(6;9) AML transformed from Philadelphia chromosome (Ph 1 )-negative chronic myelocytic leukaemia (CML). The FKH-1 expressed myelomonocytic markers and dek-can chimaeric transcript. In the presence of 10 ng/ml recombinant human granulocyte colony-stimulating factor (G-CSF), the cells doubled every 54 h and showed multilineage myeloid differentiation, resulting in heterogenous morphologies such as macrophages, basophils, eosinophils and neutrophils. Thus, this cell line may be derived from a pluripotent myeloid stem cell and should be a useful tool for biomolecular studies on the pathogenesis of t(6;9) myeloid malignancies which have rarely been investigated because of the lack of continuously proliferating cells.

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confidence: 99%

Establishment of a novel human myeloid leukaemia cell line (FKH‐1) with t(6;9)(p23;q34) and the expression of dek‐can chimaeric transcript

et al. 1998

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“…(1,7) A t(6;9) tem sido relatada em leucemia mieloide aguda, precedida de síndromes mielodisplásicas, e em pacientes que têm evolução da LMA após a exposição prévia a quimioterapia. (8,9) Dada a raridade deste subgrupo particular de LMA, há relatos na literatura que tentam descrever a incidência, as características clínicas associadas, e o prognóstico, mas deixam incertezas sobre a natureza da t(6;9). ( 6,10) A t(6;9) é, na maioria dos casos, a única anormalidade citogenética.…”

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“…(5) A maioria dos pacientes com esta doença é diagnosticada com LMA de subtipos M2 ou M4, de acordo com a classificação franco-americana-britânica (FAB), e muitos mostram evidência de mielodisplasia subjacente ou anterior. (1,5,9,12) O diagnóstico de subtipo deve ser confirmado por análise citogenética e molecular. (1,2,4) Estudos apontam que, em 60% dos casos, a classificação é de subtipo M2, e em 30% dos casos, de subtipo M4.…”

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Patient stricken by acute myeloid leukemia with T(6;9): Case report

Rosa¹

2018

Revista Brasileira De Análises Clínicas

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“…It is infrequently observed in acute leukemia and its relationship with the leukemic process, associated cytogenetic or molecular abnormalities predisposing to basophilia are poorly understood. The known morphological categories of acute myeloid leukemia associated with basophilia include AML M2, M4 and acute basophilic leukemia [1][2][3][4][5]. The presence of basophilia in AML is usually indicative of myeloid blast crisis in CML (MBC-CML), and de novo a philadelphia positive AML (Ph ?…”

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De Novo Philadelphia Positive Acute Myeloid Leukemia with Extensive Basophilia: A Diagnostic Dilemma

Singh

Rahman

Yadav

et al. 2016

Indian J Hematol Blood Transfus

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Basophilia in peripheral blood as well as bone marrow is an unusual finding, seen in certain reactive and neoplastic conditions. Amongst the malignant hematological diseases, it is a diagnostic hall mark of chronic myeloproliferative disorders, particularly, chronic myeloid leukemia. Basophilia may also be seen in cases acute myeloid leukemia, particularly FAB AML M2 and M4. Here we document an interesting case of de novo acute myeloid leukemia which had extensive peripheral blood and bone marrow basophilia. Molecular analysis revealed p190, bcr-abl fusion transcript. A short clinical course, absence of organomegaly and features suggestive of an underlying myeloproliferative disorder, aided in establishing a diagnosis of Philadelphia positive de novo acute myeloid leukemia.Basophilia is a diagnostic hallmark of chronic myeloid leukemia (CML). It is infrequently observed in acute leukemia and its relationship with the leukemic process, associated cytogenetic or molecular abnormalities predisposing to basophilia are poorly understood. The known morphological categories of acute myeloid leukemia associated with basophilia include AML M2, M4 and acute basophilic leukemia [1][2][3][4][5]. The presence of basophilia in AML is usually indicative of myeloid blast crisis in CML (MBC-CML), and de novo a philadelphia positive AML (Ph ? AML) with basophilia are rarely reported [6]. We document an unusual case of an elderly female who presented to hematology OPD with severe breathlessness and pruritis. Immunophenotyping and molecular analysis confirmed the diagnosis of Ph ? AML.A 42 years old female, known case of lymph nodal tuberculosis, presented to the hematology OPD with severe breathlessness and weakness of 20 days duration. She also complained of pruritus, facial puffiness and mild bilateral knee joint pain. She had received three units packed red blood cells in past 4 days. Physical examination showed pallor, bilateral pitting edema and mild diffuse facial swelling. There was no organomegaly or lymphadenopathy. Respiratory examination revealed crepitation over left lung. Sputum culture was positive for methicillin resistant staphylococcus aureus (MRSA). Hemogram showed hemoglobin of 91 g/l, total leucocyte count of 7.1 9 10 9 and 31 9 10 9 /l platelets. Approximately 30 % circulating blasts with moderate amount of granular cytoplasm and 10 % basophils were noted. Bone marrow smears were cellular with proliferation of approximately 45 % myeloperoxidase positive blasts and 50 % basophils including precursors (Fig. 1a and inset). Megakaryocytes were not seen. On flow cytometric evaluation, these cells were positive for CD34 (partly), CD38, CD13, CD33 and CD7; in addition on back gating distinct population of approximately 20 % basophils, was also identified, expressing CD11b, CD13, CD123 and were negative for CD117 (Fig. 2). Conventional cytogenetic analysis showed a normal female karyotype, however, a p190 bcr-abl fusion transcript (Fig. 1b) was detected by qualitative nested reverse transcriptase-polymerase c...

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Acute myelomonocytic leukemia (AML‐M4) and translocation t(6;9) (p23;q34): Two additional patients with prominent myelodysplasia

Cited by 17 publications

References 24 publications

Establishment of a novel human myeloid leukaemia cell line (FKH‐1) with t(6;9)(p23;q34) and the expression of dek‐can chimaeric transcript

Establishment of a novel human myeloid leukaemia cell line (FKH‐1) with t(6;9)(p23;q34) and the expression of dek‐can chimaeric transcript

Patient stricken by acute myeloid leukemia with T(6;9): Case report

De Novo Philadelphia Positive Acute Myeloid Leukemia with Extensive Basophilia: A Diagnostic Dilemma

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