Bone marrow biopsy demonstrates hypercellular bone marrow with trilineage hypoplasia and sheet of immature cells (H&E, 200x). Bone marrow biopsy demonstrates hypercellular bone marrow with trilineage hypoplasia and sheet of immature cells (H&E, 200x).
Bone marrow aspirate smear shows increased blasts with irregular nuclei, fine chromatin, prominent nucleoli, and occasional cytoplasmic vacuolation (Wright-Giemsa, 500x).Bone marrow aspirate smear shows increased blasts with irregular nuclei, fine chromatin, prominent nucleoli, and occasional cytoplasmic vacuolation (Wright-Giemsa, 500x).
Immunohistochemical stain using an antibody against phospho-FLT3 reveals FLT3 over-expression (200x).Immunohistochemical stain using an antibody against phospho-FLT3 reveals FLT3 over-expression (200x).
Karyotypic analysis shows the presence of t(12;13)(p13;q12). Karyotypic analysis shows the presence of t(12;13)(p13;q12).
FISH analysis using a dual color break apart probe for ETV6 revealed ETV6 gene rearrangement: the 5’-ETV6 (red) translocated onto 13q12 of a der(13)t(12;13) whereas the 3’-ETV6 (green) remained in 12p13 region of the der(12)t(12;13).FISH analysis using a dual color break apart probe for ETV6 revealed ETV6 gene rearrangement: the 5’-ETV6 (red) translocated onto 13q12 of a der(13)t(12;13) whereas the 3’-ETV6 (green) remained in 12p13 region of the der(12)t(12;13).
Translocation aCGH revealed gene rearrangements involving ETV6 (A) and FLT3 (B).Translocation aCGH revealed gene rearrangements involving ETV6 (A) and FLT3 (B).