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

Abstract

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...

AML-MRC with Basophilia Mimicking CLPD Due to Abnormally Clumped Chromatin

“…A short duration of disease, absence of a prior history of chronic myeloid leukemia, no splenomegaly, and an absence of the Philadelphia chromosome/BCR-ABL fusion gene favored the diagnosis of a de novo AML-MRC over CML-MBC. The blasts with primary differentiation in ABL express CD9, CD13, CD33, CD22, CD36, CD123, CD34, HLA-DR and CD25 [3]. The current case showed a population of obvious mature basophils in morphology in bone marrow and peripheral blood smears, expressing CD11b, CD13 and CD123 along with myeloblasts, and indicated no expression of CD34, thus supporting a diagnosis of AML-MRC with basophilia over ABL.…”

Types, Clinical Features, and Survival Outcomes of Patients with Acute Myeloid Leukemia in Thailand: A 3-Year Prospective Multicenter Study from the Thai Acute Leukemia Study Group (TALSG)

“…There was higher chance of harboring Philadelphia chromosome in AML patients with splenomegaly and normal platelet count. Thus, cytogenetics testing should be emphasized in these patient subgroups as they have different treatment and poorer outcomes [25][26][27][28][29]. This study clearly demonstrated that the outcomes of APL patients were significantly better than non-APL AML.…”