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

Abstract

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...

Acute basophilic leukemia: Case report

“…Cases with t(8;21) and basophilia have earlier been reported [25,26]. In one, the cytomorphological features were those of AML-M2 with basophilia [25], and in the second, additional chromosomal abnormality t(9;22) was present along with clinical and hematological features of CML [26]. On review, the first bone marrow of our patient had morphological features compatible with AML-M2 with increased basophils and eosinophils.…”

“…Cytogenetic studies in our case revealed t(8;21) (q22;q22), which is an unusual finding in acute basophilic leukemia. Cases with t(8;21) and basophilia have earlier been reported [25,26]. In one, the cytomorphological features were those of AML-M2 with basophilia [25], and in the second, additional chromosomal abnormality t(9;22) was present along with clinical and hematological features of CML [26].…”

Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML

“…[4][5][6][7] Previous reports including ours have demonstrated that t(8;21)AML shows high levels of CD34 and DR expression, with a prevalent positivity for CD19 and CD56 surface markers and a low expression of CD33 and CD7 when compared to AML with normal or other aberrant karyotypes, and eosinophilia is also often observed in t(8;21) AML. [8][9][10][11][12][13][14][15] Cytogenetically, the t(8;21) AML is frequently associated with a loss of the sex chromosome Y in males and inactive X in females; 3 3.4% of the cases are variant translocations. 16 However, the influence of these variant translocations or additional chromosomal abnormalities on the characteristics of t(8;21) AML is still unclear.…”

Acute basophilic leukemia associated with the t(16;21)(p11;q22)/FUS‐ERG fusion gene

“…Recent findings suggest that IKAROS alterations are associated with disease acceleration and basophil expansion in CML . Basophilic differentiation may occur in AML carrying t(8;21)(q22;q22)/ RUNX1 ‐ RUNX1T1 ; however, reactive BM basophilia in response to a factor produced by leukemia blasts was suggested in one case . t(6;9)(p22;q34)/ DEK ‐ NUP214 is observed in AML with or without monocytic features and 44–62% of cases show >2% basophilia in PB and BM .…”