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Case 272 - Discussion

Uploaded: 2012-10-10, Updated: 2012-10-08

  • This bone marrow biopsy reveals >30% blasts and many dysplastic small megakaryocytes with frequent mononucleated and binucleated forms. Dysgranulopoiesis and dyserythropoiesis are also present;

  • Flow cytometry shows a distinct myeloblastic population with aberrant expression of CD7;

  • Previous cytogenetic studies detected monosomy 7 and "deletion of 3q";

  • Based on the morphologic findings, in conjunction with aberrant CD7 expression and monosomy 7, an AML with t(3;3) or inv(3) was suspected. Cytogenetic lab was informed to add FISH for EVI1 rearrangement and the result came back as positive.Conventional cytogenetic studies also detected inv(3);

  • Cytogenetic results: 45,XX,inv(3)(q21q26.2),-7;

  • FISH study: positive for EVI1 rearrangement.

EVI1 rearrangement

45,XX,inv(3)(q21q26.2),-7