AML with t(7;21)(p22;q22) and 5q abnormality, a case report

Jianling Ji, Eric Loo, Carlos A Tirado  

Department of Pathology and Laboratory Medicine, David Geffen UCLA School of Medicine, Los Angeles, CA, USA

Previous history

Malignant disease
Inborn condition
Main items

Clinics case report

57 yrs
Lymph nodes
Cns involv

Blood data

Bone marrow

Cyto path

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).
Rearranged ig tcr
Not performed.
Acute myeloid leukemia, not otherwise specified (AML, NOS), with monocytic differentiation.
Electron microscopy
Not performed.
Precise diagnosis
Acute myeloid leukemia, not otherwise specified (AML, NOS); Acute myelomonocytic leukemia subtype.

Survival data

Date diagnosis
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).
Complete remission
Treatment relat death
Date last follow


Bone marrow aspirate
Culture time
24 without stimulating agents
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].
Mol cytogenet technics
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.
Mol cytogenet results
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].

Other molec studies

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.

Other findings

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).


Atlas Image
Interphase FISH with three signals of RUNX1 (green) and two signals of RUNXT1 (orange).
Atlas Image
Interphase FISH with two signals of 5p15.2 region (green) and one signal of EGR1 (orange) suggests loss of 5q.
Atlas Image
Karyotype on the bone marrow aspirate showing additional material of unknown origin attached at 5q13 leading to 5q loss.
Atlas Image
The sequential FISH study on a previously G-banded metaphase with LSI RUNX1/RUNXT1 probe showing the green signals of RUNX1 on der(7), der(21) and normal chromosome 21, respectively. Two normal orange of RUNXT1 are seen on the chromosomes 8.
Atlas Image
FISH with TelVysion 7p (green, on the sub-telomere region of 7p), 7q (orange, on the sub-telomere region of 7q) and chromosome 14 (yellow and aqua) showing one green signal of 7p on der(21), and the der(7) is missing a green signal. Two normal chromosomes 14 are seen as indicated by the signal pattern (one yellow and one aqua signals on two normal chromosomes 14 respectively).

Comments section

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.


Pubmed IDLast YearTitleAuthors
163578312006A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42.Paulsson K et al
200641522010Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.Foster N et al
213192592011Microhomologies and topoisomerase II consensus sequences identified near the breakpoint junctions of the recurrent t(7;21)(p22;q22) translocation in acute myeloid leukemia.Giguère A et al
228679972012A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity.Jeandidier E et al
238771992013Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion.Panagopoulos I et al


Jianling Ji, Eric Loo, Carlos A Tirado

AML with t(7;21)(p22;q22) and 5q abnormality, a case report

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version:;21)(p22;q22)-and-5q-abnormality-a-case-report