-

-

-

-

57 yrs

F

-

-

-

-

2.32

6.9

170

0

25

CD10 (partial), CD11b (partial), CD13, CD14 (partial), CD15 (partial), CD16 (partial), CD22 (partial), CD34 (partial), CD36 (partial), CD38, CD56 (partial), CD64 (partial), CD117 (partial), HLA-DR (bright), icCD22 (partial), and MPO (partial) with aberrant expression of CD7 (partial).

Not performed.

Acute myeloid leukemia, not otherwise specified (AML, NOS), with monocytic differentiation.

Not performed.

Acute myeloid leukemia, not otherwise specified (AML, NOS); Acute myelomonocytic leukemia subtype.

02-2013

Following diagnosis, the patient was seen at an outside institution for treatment and was placed on Revlimid therapy as opposed to induction chemotherapy for about 5 months without improvement or significant deterioration of her blood counts. She was referred to our institution to be evaluated for allogenic stem-cell transplantation. A repeat bone marrow biopsy (~6-7 months post diagnosis) confirmed persistent AML, and the cytogenetic studies were performed. The patient was then started on 7+3 AML induction (Cytarabine 320 mg IV continuous days 1-7, Idarubicin 19 mg IV on days 3-6). A day 16 repeat bone marrow biopsy showed persistent presence of abnormal myeloblasts. Biopsy about 6 weeks following induction therapy showed remission with no excess or abnormal myeloblasts. She was subsequently admitted and completed her first cycle of consolidation chemotherapy with high-dose cytarabine (3 gm/m2 IV q 12 hours on days 1, 3, 5 for 6 doses).

+

-

-

A

12-2013

9

Bone marrow aspirate

24 without stimulating agents

GPG

Analysis of 20 metaphase cells revealed an abnormal female karyotype with additional material of unknown origin at 5q13 leading to partial deletion of 5q in 5/20 metaphase cells examined. The karyotype was described as: 46,XX,add(5)(q13)[5]/46,XX[15].

Fluorescence in situ hybridization (FISH) using the LSI RUNX1(AML1)/RUNXT1(ETO) Dual Color Translocation Probe and LSI EGR1/D5S23, D5S721 Dual Color Probe Set (Abbott Molecular, USA) were performed.

Split of the RUNX1 gene was detected in the interphase nuclei (three green signals) in 235/300 nuclei, and 5q deletion was detected (two green one orange signal pattern) in 19/300 nuclei. Subsequent metaphase FISH on previously G-banded slides was performed by using RUNX1/RUNXT1 and 7p sub-telomere probe. The cryptic translocation t(7;21) was identified. Based on the metaphase FISH study, the final ISCN was characterized as: 46,XX,add(5)(q13)[5]/46,XX[15].ish t(7;21)(p22;q22)(RUNX1+; VIJyRM2185+)[2].

DNA was isolated by routine methods and subjected to quantitative real-time polymerase chain reaction using allele-specific primers complementary to the mutated and wild-type sequences of the JAK2 gene.

Negative for JAK2 mutation V617F.

The previous FISH studies on G-banded metaphases showed that the AML1 signal was split and moved to 7p, and the subtelomeric probes for 7p/q showed that the 7p signal moved to 21q, thus, establishing the t(7;12).

Our presented case also had evidence of persistent leukemia after 6 months of initial treatment with Revlimid (at another institution), but achieved complete remission by morphology, flow, and cytogenetics after standard 7+3 AML induction chemotherapy. She has since completed her first cycle of consolidation chemotherapy (high-dose Cytarabine) without incident. She is alive and in remission as of 9 months from diagnosis.