A novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic Leukemia

Siddharth G Adhvaryu, Alka Dwivedi, Peggy Stoll  

University of Texas Health Science Center at San Antonio, San Antonio, Texas-78229

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
25 yrs
Sex
M
Liver
- Negative to palpation; Ultrasound not done
Spleen
- Negative to palpation; Ultrasound not done
Lymph nodes
Not Documented
Cns involv
No CSF examined, no head CT performed

Blood data

Wbc
19.6
Hb
12.3
Platelets
15
Blasts
68
Bone marrow
The specimen was taken from the iliac crest and particle crush smears appeared cellular but dilute. The trephine imprints were cellular. No significant maturation of the myeloid series was present. The myeloid series were primarily composed of segmented neutrophils. No erythroid dyspoiesis was evident. Only a rare magakaryocyte was seen. Blasts were similar to those of the peripheral blood and appeared very delicate and easily crushed. No Auer rods were seen.

Cyto path

Cytology
Precursor B-cell acute lymphoblastic Leukemia (WHO)
Immunophenotype
Flow cytometric analysis of the marrow was performed at the Methodist Hospital. The blasts had a precursor B-lymphoblast phenotype: CD19 positive, CD20 positive, CD10 positive, CD79a positive (cytoplasmic) and TdT positive. Myeloid markers (CD13, CD33, CD14, CD117 and myeloperoxidase) are negative. T-cell markers (CD3, CD5, CD7, CD4 and CD8) are also negative. CD34 is positive (partial).
Rearranged ig tcr
Not done
Electron microscopy
Not done
Precise diagnosis
Precursor B-cell Acute Lymphoblastic Leukemia

Survival data

Date diagnosis
11-2006
Treatment
Asparaginase, Cyclophosphamide, Daunorubicin, Vineristine
Complete remission
+ Bone marrow examination on 12-04-2006 is compatible with early remission.
Treatment relat death
No; Discharged from hospital on 12-06-2006
Relapse
-
Status
A
Survival
N/A

Karyotype

Sample
Peripheral Blood
Culture time
24/48
Banding
GTW
Results
46-47, XY,del(5)(q34),t(6;14) (p22;q32),i(9)(q10),del(17)(p10),-20,+mar[cp6]
Mol cytogenet technics
Fluorescence In Situ Hybridization (FISH)
Mol cytogenet results
FISH was performed using Vysis LSI IGH dual color, break apart rearrangement probe. The analysis revealed an IgH rearrangement with the green signal on der (6).

Images

Atlas Image
Representative metaphase of case number 06-1570
Atlas Image
Partial karyotype of case number 06-1570 showing the new t(6;14)(p22;q32) and other anomalies
Atlas Image
FISH results showing 14q32 translocation

Comments section

Comments
There are few reports documenting t(6;14)(p21.1;q32.3), in cases of multiple myeloma/plasma cell leukemia and diffuse large B cell non Hodgkin lymphoma. Our case report shows a karyotype with multiple abnormalities. One significant abnormality observed was the loss of 9 p in the form of i(9)(q10), which is a common finding in precursor B-cell lymphoblastic leukemia. Our case also showed partial deletions of 5q and 17p. We observed a novel translocation t(6;14) (p22;q32) in a patient with Precursor B-cell Acute Lymphoblastic Leukemia. FISH studies performed on the metaphases of this specimen confirmed the translocation of IGH (located on 14q32.3). E2F3 is a transcription factor located on 6p22 that is reported to play a critical role in regulating normal cellular proliferation and differentiation. Though the exact gene in 6p22 translocation is not yet known, it is speculated that E2F3 might be clinically significant in leukemia/MDS. However, involvement of Geminin, DNA replication inhibitor (GMNN) located on 6p22.2 cannot be ruled out.
Call for collab
Dr Siddharth G Adhvaryu, Director, Cytogenetics Laboratory, UTHSCSA, San Antonio, TX-78229, Ph: 210-567-4021, 210-567-4050/4051; E-mail: ADHVARYU@UTHSCSA.EDU

Bibliography

Pubmed IDLast YearTitleAuthors
107335292000E2f3 is critical for normal cellular proliferation.Humbert PO et al
116753582001Cyclin D3 is a target gene of t(6;14)(p21.1;q32.3) of mature B-cell malignancies.Sonoki T et al
152823132004Rereplication by depletion of geminin is seen regardless of p53 status and activates a G2/M checkpoint.Zhu W et al
169532232006E2F3 is the main target gene of the 6p22 amplicon with high specificity for human bladder cancer.Oeggerli M et al
170745912006Translocation (14;18)(q32;q21) in acute lymphoblastic leukemia: a study of 12 cases and review of the literature.D'Achille P et al

Citation

Siddharth G Adhvaryu, Alka Dwivedi, Peggy Stoll

A novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic Leukemia

Atlas Genet Cytogenet Oncol Haematol. 2007-01-01

Online version: http://atlasgeneticsoncology.org/case-report/208818/a-novel-chromosomal-translocation-(6;14)-(p22;q32)-in-a-case-of-precursor-b-cell-acute-lymphoblastic-leukemia