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Table of Contents
CASE REPORT
Year : 2015  |  Volume : 2  |  Issue : 2  |  Page : 189-190

A case of dic (1:15) (p11;p11) with t(9:22)(q34:q11) in B-ALL


1 Senior Technologist, Central Molecular Diagnostic Lab & Cytogenetics, Laboratory Services, Apollo Main Hospitals, Chennai, India
2 Senior Consultant, Clinical Hematology, Apollo Main Hospitals, Chennai, India
3 Geneticist, Central Molecular Diagnostic Lab & Cytogenetics, Laboratory Services, Apollo Main Hospitals, Chennai, - 600 006, India

Date of Web Publication5-Jul-2017

Correspondence Address:
Indhumathi Nagarathinam
Geneticist, Laboratory Services, Apollo Main Hospital, Chennai
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.5530/ami.2015.5.5

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  Abstract 


B cell ALL is a subtype of Acute lymphoblastic leukemia (ALL). Till date, 3 dicentric's: dic (7;9), dic(9;12) and dic(9;20) with t(9;22) were reported in B- ALL . The hematological profile revealed a white blood cell count of 324.3 ×103/mm3 with 74% blasts, a hemoglobin level of 6.2 g/dl and a platelet count of 50X109 /mm. Trephine biopsy revealed proliferations of blasts which are medium sized to large and had vesicular nuclei with indented nucleoli. The biochemical parameters were normal except elevated liver AST (67U/L);ALT(121U/L);GGTP(159U/L), alkaline phosphatase (251U/L) profiles and renal urea (46mg/dl),Creatinine (1.446mg/dl) and sodium (135mEq/L). The patient was positive for the Immunophenotypic markers CD10/CD19/CD34/ CD33 by Flowcytometry. Diagnosis of B- ALL was made. To our knowledge this dic(1;15)(p11:p11) with t(9;22) (q34;q11) is the first kind of report in B-ALL. Further molecular studies are required to elucidate the pathogenesis and prognostic significance of dic(1;15) in leukemia.

Keywords: Acute lymphoblastic leukemia, Dicentric chromosome, Translocations


How to cite this article:
Saminathan A, Prabhu, Nagarathinam I. A case of dic (1:15) (p11;p11) with t(9:22)(q34:q11) in B-ALL. Acta Med Int 2015;2:189-90

How to cite this URL:
Saminathan A, Prabhu, Nagarathinam I. A case of dic (1:15) (p11;p11) with t(9:22)(q34:q11) in B-ALL. Acta Med Int [serial online] 2015 [cited 2019 Sep 21];2:189-90. Available from: http://www.actamedicainternational.com/text.asp?2015/2/2/189/209642




  Introduction Top


B cell ALL is a subtype of Acute lymphoblastic leukemia (ALL). World Health Organization classifies B cell ALL based on frequent cytogenetic findings into t(9:22) (q34;q11.2); 11q23 translocations; t (12;21) (p13;q22); t (1;19) (q23;p13.3); t (5;14) (q31;q32); hyperdiploidy;hypodiploidy and B- ALLs not otherwise specified.[1] t(9;22) occurs in 15-30% of adult B- ALL and it is associated with poor prognosis.[2],[3] We report a novel dicentric (1;15) (p11;p11) with t(9;22)(q34;q11) in B- ALL. Dicentric's (dic) are aberrant chromosomes with two centromeres. Till date, 3 dicentric's: dic (7;9), dic(9;12) and dic(9;20) with t(9;22) were reported in B- ALL with a poor prognosis. Dicentric chromosomes (1;15) are also reported in other hematological Malignancies like MDS, AML and ALL.


  Case Report Top


A 35-year-old male came with complaints of prolonged fever for 3 weeks and body Pain. The hematological profile revealed a white blood cell count of 324.3 X103/mm3 with 74% blasts, a hemoglobin level of 6.2 g/dl and a platelet count of 50X109/mm.3 Bone marrow aspirate showed hyper cellular particles and trails. WBC's showed hyperleucocytosis with blasts. Severe thrombocytopenia also noted. Trephine biopsy revealed proliferations of blasts which are medium sized to large and had vesicular nuclei with indented nucleoli. No megakaryocytes were noted. There was a marked increase in reticulin.

The biochemical parameters were normal except elevated liver AST (67U/L);ALT(121U/L);GGTP(159U/L), alkaline phosphatase (251U/L) profiles and renal urea (46mg/dl),Creatinine (1.446mg/dl) and sodium (135mEq/L). Clinical examination revealed mild spleen enlargement, 2cm below coastal margin. No Lymphadeonpathy. Central nervous system was also not involved. The patient was positive for the Immunophenotypic markers CD10/CD19/CD34/ CD33 by Flowcytometry. Diagnosis of B- ALL was made, however the patient moved to home town for treatment. Conventional karyotype analysis was done on Standardized unstimulated direct and 24 hours bone marrow cultures.Conventional G banding revealed an abnormal karyotype interpreted as: 46,XY,+1,dic(1;15) (p11;p11),t(9;22)(q34;q11) [Figure 1] using International System for Cytogenetic nomenclature, 2013.[4] Partial Karyotype of dic(1;15).t(9;22) was represented in [Figure 2].
Figure 1: GTG banded karyogram exhibiting 46,XY,+1,dic(1;15)(p11;p11),t(9;22)(q34;q11)

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Figure 2: Partial Karyotype of dic(1;15).t(9;22)

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  Conclusion Top


To our knowledge this dic(1;15)(p11:p11) with t(9;22) (q34;q11) is the first kind of report in B-ALL. Other clonal dicentric chromosome reports with t(9;22) in B-ALL are dic (7;9),dic(9;12) and dic(9;20). Also, few dicentric chromosome reports involving 1 and 15 are described as in polycythemia Vera, essential thrombocythaemia, atypical MPD, MDS and acute myeloid leukemia.[5],[6] Genes involved in dic(1;15) are unknown. Hence, further molecular studies are required to elucidate the pathogenesis and prognostic significance of dic(1;15) in leukemia.



 
  References Top

1.
Swerdlow, S.H., Campo, E., Harris, N.L., Jaffe, E.S., Pileri, S.A., Stein, H., Thiele, J., Vardiman, J.W WHO classification of Tumors of Haematopoietic and Lymphoid Tissues. 2008 Lyon: IARC.  Back to cited text no. 1
    
2.
Dalia Tewary, Jayita Dey Mondal, Samadrita Mukherjee Sardar. Acute Lymphoblastic Leukemia-An Overview. IJSR 2014:3:1:110–114.  Back to cited text no. 2
    
3.
Al-Achkar W, Wafa A, Othman MA, Moassass F, Aljapawe A, Liehr T. An Adult B- cell precursor acute lymphoblastic leukemia with multiple secondary cytogenetic aberrations. Mol Cytogenet. 2014 Sep 10;7(1):60: doi: 10.1186/s13039-014-0060–0.  Back to cited text no. 3
    
4.
Shaffer L.G, McGowan-Jordan J, Schmid M (eds). “An International System for Cytogenetic Nomenclature”. 2013 Karger S, Basel  Back to cited text no. 4
    
5.
Rodrigues Pereira Velloso ED, Alonso Ratis C, Kishimoto RK, Aquilino Oliveria D, de Sousa Misael NC, de Campos Guerra JC, Mangueira CLP. A new case of dic(1;15) in essential thrombocythaemia with JAK2 V617F mutation. Atlas Genet Cytogenet Oncol Haematol.2012;16(6):441–442.  Back to cited text no. 5
    
6.
Deniz Gören Şahin, Beyhan Durak, Eren Gündüz, Sevilhan Artan, and Olga Meltem Akay. A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature. Case Reports in Genetics, vol. 2013, Article ID 462896, 3 pages, 2013. doi:10.1155/2013/462896  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2]



 

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