Increased numbers of marrow basophils may be associated with a t(6;9) in ANLL

Pearson, Marilyn; Vardiman, James W.; Beau, Michelle M. Le; Rowley, Janet D.; Schwartz, Stuart; Kerman, Shelly L.; Cohen, Maimon M.; Fleischman, E. W.; Prigogina, E. L.

doi:10.1002/ajh.2830180409

Cited by 105 publications

(44 citation statements)

References 27 publications

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“…[2][3][4]28,29 We also confirmed the high incidence of FLT3-ITD: 5/8 cases compared to nine out of 10 published cases. 27 It has been suggested that genomic instability in DEK-CAN þ blasts induces FLT3-ITD.…”

Section: Discussionsupporting

confidence: 75%

DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification

et al. 2005

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The t(6;9)(p23;q34) is a recurrent chromosomal abnormality observed in 1% of acute myelogenous leukemia (AML), which generates a fusion transcript between DEK and CAN/NUP214 genes. We used a DEK-CAN real-time quantitative (RQ)-PCR strategy to analyze 79 retrospective and prospective samples from 12 patients. Five patients reached DEK-CAN negativity (sensitivity 10 À5 ); all underwent early allogeneic hematopoietic stem cell transplantation (median 5.5 months from diagnosis) with some demonstrating molecular positivity at the time of allograft. All four cases in CCR with adequate follow-up (median 18.5 months, range 13-95) demonstrate persistent molecular negativity, whereas all seven patients with persistent DEK-CAN positivity died at a median of 12 months from diagnosis (range 7-27). We conclude that DEK-CAN molecular monitoring by RQ-PCR in t(6;9) malignancies is a useful tool for individual patient management and that molecular negativity is indispensable for survival, but should not be a prerequisite for allografting in this rare, poor prognosis, subset of AML.

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Section: Discussionsupporting

confidence: 75%

DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification

et al. 2005

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“…Increased numbers of basophils occur in some cases AML containing either the t(6;9)(p23;q34) or chromosome 12p abnormalities. 3,4 In this report, we describe an unusual case of AML containing a cryptic t(8;21) involving the AML1 and ETO genes that was associated with marked bone marrow basophilia. To our knowledge, this represents the first reported association of marked basophilia with expression of the chimeric AML1-ETO protein.…”

Section: To the Editormentioning

confidence: 91%

“…1 MRD can be detected and quantified in peripheral blood either by the polymerase chain reaction (PCR) 2 or by immunophenotyping. 3 Since rising levels of disease can be demonstrated in bone marrow prior to clinical relapse, 4,5 we decided to determine whether rising levels could likewise be detected in the blood by PCR and whether the features of such molecular relapse in blood were such as to suggest that monitoring of blood may be of practical value. If answers to these questions were in the affirmative, then this would indicate that more extensive prospective studies of the value of monitoring of blood could well be important.…”

Section: To the Editormentioning

confidence: 99%

Marked bone marrow basophilia in a child with acute myeloid leukemia with a cryptic t(8;21)(q22;q22) chromosomal translocation

2001

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Correspondence 1799 blot analysis. However, examples of pure ALL cells contains no or few if any, expression of the MPO gene, indicating that MPO could be the best marker of myeloid differentiation. In this case, no TCR and immunoglobulin-heavy and -light chain rearrangements were detected by Southern blot analysis. We thus report here a case of AML-M0 complicated with generalized granulocytic sarcoma, as confirmed by in situ hybridization (ISH) for the detection of MPO gene expression. AcknowledgementsWe wish to thank Mr Yoichi Tani and Mr Koichiro Kitagawa (Dako Lab, Dako Japan) for their valuable assistance with the in situ hybridization for MPO. H MiyazatoThird Marked bone marrow basophilia in a child with acute myeloid leukemia with a cryptic t(8;21)(q22;q22) chromosomal translocation TO THE EDITORPrimary malignant disorders of basophils, ie acute basophilic leukemia, are rare. 1 However, basophilia may accompany other hematologic malignancies. Bone marrow and peripheral blood basophilia commonly accompanies chronic myelogenous leukemia (CML) and is an important diagnostic feature of this disease. 2 In those patients who present with accelerated disease or in blast crisis, the presence of basophilia is useful in distinguishing an underlying CML from de novo acute myeloid leukemia (AML). Basophilia is uncommonly associated with acute leukemia. Increased numbers of basophils occur in some cases AML containing either the t(6;9)(p23;q34) or chromosome 12p abnormalities. 3,4 In this report, we describe an unusual case of AML containing a cryptic t(8;21) involving the AML1 and ETO genes that was associated with marked bone marrow basophilia. To our knowledge, this represents the first reported association of marked basophilia with expression of the chimeric AML1-ETO protein.The patient, a 3.8-year-old white female, presented to her local pediatrician with a 2-day history of fever and sore throat. A complete blood count revealed a normal white blood count, hemoglobin of 5 g/dl and a platelet count of 16 × 10 9 /l. She was referred to the local pediatric oncology center where she received transfusions and underwent a diagnostic work-up, including bone marrow aspirates. The impression was that of acute leukemia, possibly representing blast crisis of CML. Following transfer to our institution, she was noted on physical examination to have petechiae and molluscum contagiosum lesions. At the time the bone marrow aspirate and biopsy were obtained, she developed hives wherever she was touched, and dermatographia was detected. Peripheral blood analysis revealed a white blood cell count of 12.2 × 10 9 /l, a hematocrit of 32%, with a differential of 32% neutrophils, 1% band forms, 1% myelocytes, 38% blasts, 26% lymphocytes, 1% monocytes, and 1% basophils, and a platelet count of 64 × 10 9 /l. Examination of peripheral blood revealed 38% myeloblasts, some containing Auer rods (Figure 1a). Bone marrow aspirate smears were hypercellular and contained frequent blasts, with occasional cells containing Auer rods (Figure 1c). Rem...

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“…Cytogenetic abnormalities commonly known to be associated with basophilia in acute leukemia include t(8;21)(q22;q22), t(6;9)(p23;q34) and inv 3(q21;26.2) [1,7,8]. Ph ?…”

Section: Dear Editormentioning

confidence: 99%

“…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 ?…”

mentioning

confidence: 99%

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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Increased numbers of marrow basophils may be associated with a t(6;9) in ANLL

Cited by 105 publications

References 27 publications

DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification

DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification

Marked bone marrow basophilia in a child with acute myeloid leukemia with a cryptic t(8;21)(q22;q22) chromosomal translocation

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

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