Institution: UMDNJ-RWJMS
Additional authors:Hana Aviv, PhD
Session: B Lymphoblastic Leukemia/Lymphoma
HISTORY
The patient is a 10 year old female with a history of fatigue (Nov, 2011), was found to have anemia and thrombocytopenia on CBC. Subsequently, the patient underwent a bone marrow study which showed increased blasts and flow cytometry analysis revealed immunophenotypic features of B-acute lymphoblastic leukemia (B-ALL). Furthermore, cytogenetic and FISH analysis showed t(8;22) involving c-MYC. The patient was diagnosed with B-ALL with c-MYC activation. However, the clinicians were of the opinion that the patient has Burkitt Lymphoma and was treated with according with Children's Oncology Group ANHL01P1 protocol. The patient went into remission and continues to do well till date.
DETAILS
Site of biopsy: Left PSIS. Fixation: Formalin.
Microscopic findings:Peripheral smear: Increased blasts (22%) of small to medium sized with high N/C ratio, finely clumped chromatin and occasional blast with cytoplasmic granules. Bone marrow aspirate smear: Aparticulate and hemodiluted smears. Show increased blasts (49%), the morphology is similar to that of peripheral smear blasts. Bone marrow biopsy: Hypercellular bone marrow (95% cellular) with sheets of blasts. Decreased to absent trilineage hematopoiesis.IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY
Flow cytometry analysis: CD45 dim with low side scatter population (40%) which coexpress TdT (dim), CD10, CD19, CD38, CD79a (cytoplasmic), HLA-DR, and CD34 (very small subset).
Immunihistochemistry: Blasts positive for TdT, CD79a and negative for CD34, CD20. The proliferation index by Ki-67 is more than 90%.CYTOGENETIC FINDINGS
46, XX, t(2;4)(p11.2;q31),del(3)(q21)[2]/46,idemt(8;22)(q24.1;q11.2)[18]
FISH analysis: nuc ish(MYCx2)(5'MYC sep 3'MYCx1)[65/200]Negative for trisomies of 4, 10, and 17.Negative for t(9;22), t(12;21) and MLL rearrangements.MOLECULAR FINDINGS
None.
INTERESTING FEATURES
B- ALL with c-MYC activation due to t(8;22).B-ALL according to flow cytometry and immunohistochemistry analysis.Clinically, the case was thought to be Burkitt Lymphoma/Leukemia and treated accordingly.
PROPOSED DIAGNOSIS
B-Acute Lymphoblastic Leukemia with c-MYC activation.
CONSENSUS DIAGNOSIS
B-acute lymphoblastic leukemia with t(8;22)(q24.1;q11.2)