Original ArticlesNear Tetraploidy in Three Cases of Acute Myeloid Leukemia Associated with Mediastinal Granulocytic Sarcoma
Introduction
Granulocytic sarcoma (GS) is a rare presenting feature or complication of acute myeloid leukemia (AML) [1]. Cytogenetic data of GS are limited. Chromosomal abnormalities, t(8;21)(q22;q22) and inv(16)(p13q22), were reported to be associated with a higher incidence of GS. GS affecting the mediastinum is rare, 13 such cases having been reviewed earlier [2]. Three cases of AML associated with mediastinal GS are presented. Cytogenetic analysis in all three cases showed near tetraploidy, a rare cytogenetic abnormality in AML.
Section snippets
Case 1
A 29-year-old woman presented with menstrual irregularity and bilateral ovarian masses. A full blood count showed hemoglobin (Hb), 8.7 g/dL; a white cell count (WBC), 11.2 × 109/L; and a platelet count (Plt), 279 × 109/L. Laparotomy and bilateral salpingo-oophorectomy were performed in another hospital, and the diagnosis was reported as a high-grade lymphoma. Bone-marrow biopsy was normal. Six monthly courses of CHOP (cyclophosphamide, 750 mg/m2; adriamycin, 50 mg/m2; vincristine,1.4 mg/m2;
Histopathology
In patient 1, the salpingo-oophorectomy specimen showed diffuse infiltration of the fallopian tubes by myeloblasts with occasional myelocytes. In patient 2, the right cervical lymph node showed diffuse infiltration by myeloblasts with only occasional remnant follicles. In both cases, the blasts had fine nuclear chromatin and scanty cytoplasm, and many of them were positive for chloroacetate esterase, confirming their myeloid origin.
Morphologic, Immunophenotypic, and Cytogenetic Studies
The morphologic and immunophenotypic features of the cases are
Discussion
Tetraploidy is an uncommon cytogenetic finding in acute leukemia, being most common in childhood acute lymphoblastic leukemia [5]. Only about 15 cases of AML with tetraploidy have been described [6]. The reported features of AML with tetraploidy included the presence of large bizarre blasts, heterogeneity in FAB classification (all FAB classes except M3 and M7 had been described), and an overall poor prognosis 6, 7, 8, 9, 10, 11.
Pathologically, tetraploid AML usually showed large blasts, with
Acknowledgements
The authors thank T.S.K. Wan for technical assistance in cytogenetic analysis.
References (15)
- et al.
Near triploid and near tetraploid acute lymphoblastic leukemia of children
Blood
(1990) - et al.
Near tetraploidy in adult acute myelogenous leukemia
Cancer Genet Cytogenet
(1996) - et al.
Cytogenetic triclonality in acute myeloid leukemiaMorphologic, immunologic and in situ hybridization study
Cancer Genet Cytogenet
(1994) - et al.
Hypotetraploidy in erythroleukemia
Cancer Genet Cytogenet
(1983) - et al.
Chromosomes and causation of human cancer and leukemiaNear tetrapoidy in acute leukemia
Cancer Genet Cytogenet
(1985) - et al.
Near tetraploid clones in acute leukaemia
Blood
(1983) Cell size heterogeneity in AML:DNA ploidy as another possible association
Leuk Res
(1996)
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