Case 109

Submitting Author: Medina, Edwin A, MD
Institution: Clinica Colsanitas
Additional authors:Maria Urrego, Monica Zapata, Rocio Orduz, Johanna Echeverry, Carlos Ramirez
Session: B Lymphoblastic Leukemia/Lymphoma

HISTORY

A 59-y.o. woman was brought to ER complaining of 1-month of fever, malaise and diarrhea. Her medical records were remarkable for apendicectomy, cholecistectomy and gastric by-pass surgery. Physical showed pallor and high heart beat. CBC: Hb 6.7g/dL, WBC 26.89K/uL, Blasts 50%, platelets 101K/uL. Abdominal CT-scan: 2-cm splenic nodule. She underwent bone marrow aspiration and trephine biopsy. Morphological review, flow cytometry immunophenotype, cytogenetics and molecular biology was performed (pictures attached). After diagnosis, she received vincristine, doxorrubicine and asparaginase during 2 weeks. At that point a bone marrow aspirate reported blasts 18%. A new therapeutic regimen was proposed using vincristine, prednisone, daunorrubicine and dasatinib and intrathecal chemotherapy with methotrexate, hydrocortisone and cytarabine. After a 4-week treatment a 0% blasts was identified on bone marrow aspirate (No MRD was detected on FCI). Currently, 4 months after diagnosis, she is doing well.

DETAILS

Site: right posterior iliac crest.

Fixative: formaldehyde.

Decalcifier: EDTA.

Gross description: 1-cm trephine bone biopsy.

Microscopic pathology: Blasts on smear (scant agranular blue cytoplasm, round to oval nuclei with coarse chromatin, small nucleoli). Bone marrow biopsy showed hematopoiesis replaced by medium-size agranular blast, high mitotic count and usual reticulin network.

IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY

Flow cytometry immunophenotype: CD19+, cytCD79a+, CD34+, CD10++, nuTdT+, CD45-/dim, CD38-/dim, HLADR+, CD13dim, CD20-, CD7-, cytMPO-, cytCD3-, CD15-, cytIgM-

CYTOGENETIC FINDINGS

46, XX, t(9;22)(q34;q11)

MOLECULAR FINDINGS

RT-PCR BCR/ABL p210 (GeneXpert): Positive (18% International Standard) at diagnosis.

Positive (0.0076% IS) after induction.

INTERESTING FEATURES

The immunophenotype with CD10 over expressed, CD34 positive, CD38 heterogeneous (negative to dim) with CD13 dim is a characteristic feature of Common-Phenotype ALL with recurrent cytogenetic abnormalities (Philadelphia Cromosome +). This alteration was identified by RT-PCR (p210) and conventional karyotype. RT-PCR has been used as follow-up tool. TKI has been added to treatment and a really low percentage of BCR/ABL transcripts were detected in blood.

PROPOSED DIAGNOSIS

Acute Lymphoblastic Leukemia with recurrent cytogenetic abnormalities (Philadelphia Chromosome positive)

CONSENSUS DIAGNOSIS

B-acute lymphoblastic leukemia, Philadelphia chromosome positive (BCR/ABL1; p210)