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(Paper co-edited with the European LeukemiaNet)
A novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic Leukemia
Written2007-01Siddharth G Adhvaryu, Alka Dwivedi, Peggy Stoll
University of Texas Health Science Center at San Antonio, San Antonio, Texas-78229
Age and sex : 25 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly (Negative to palpation; Ultrasound not done); no splenomegaly (Negative to palpation; Ultrasound not done); no enlarged lymph nodes (Documented); no central nervous system involvement (CSF examined, no head CT performed)
WBC : 19.6 x 109/L ; Hb : 12.3 g/dL ; platelets : 15 x 109/L; 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 pathology classification
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
Date of diagnosis: 11-2006
Treatment : Asparaginase, Cyclophosphamide, Daunorubicin, Vineristine
Complete remission was obtained
Comments : Bone marrow examination on 12-04-2006 is compatible with early remission.
Treatment related death : No; Discharged from hospital on 12-06-2006
Relapse : -
Status : Alive
Sample : Peripheral Blood ; culture time : 24/48 h ; banding : GTW
Results : 46-47, XY,del(5)(q34),t(6;14) (p22;q32),i(9)(q10),del(17)(p10),-20,+mar[cp6]
Other molecular cytogenetics technics : Fluorescence In Situ Hybridization (FISH)
Other molecular cytogenetics 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).
Representative metaphase of case number 06-1570
Partial karyotype of case number 06-1570 showing the new t(6;14)(p22;q32) and other anomalies
FISH results showing 14q32 translocation
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 collaboration
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
Internal links
Atlas Cardt(6;14)(p22;q32)
E2f3 is critical for normal cellular proliferation.
Humbert PO, Verona R, Trimarchi JM, Rogers C, Dandapani S, Lees JA
Genes & development. 2000 ; 14 (6) : 690-703.
PMID 10733529
Cyclin D3 is a target gene of t(6;14)(p21.1;q32.3) of mature B-cell malignancies.
Sonoki T, Harder L, Horsman DE, Karran L, Taniguchi I, Willis TG, Gesk S, Steinemann D, Zucca E, Schlegelberger B, Solé F, Mungall AJ, Gascoyne RD, Siebert R, Dyer MJ
Blood. 2001 ; 98 (9) : 2837-2844.
PMID 11675358
Rereplication by depletion of geminin is seen regardless of p53 status and activates a G2/M checkpoint.
Zhu W, Chen Y, Dutta A
Molecular and cellular biology. 2004 ; 24 (16) : 7140-7150.
PMID 15282313
Vigui F
Atlas Genet Cytogenet Oncol Haematol. 2005 ; 9 (numero 3) : 476-478.
E2F3 is the main target gene of the 6p22 amplicon with high specificity for human bladder cancer.
Oeggerli M, Schraml P, Ruiz C, Bloch M, Novotny H, Mirlacher M, Sauter G, Simon R
Oncogene. 2006 ; 25 (49) : 6538-6543.
PMID 16953223
Translocation (14;18)(q32;q21) in acute lymphoblastic leukemia: a study of 12 cases and review of the literature.
D'Achille P, Seymour JF, Campbell LJ
Cancer genetics and cytogenetics. 2006 ; 171 (1) : 52-56.
PMID 17074591


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