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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
Translocation t(7;9)(q34;q32) found in pediatric T-cell Acute Lymphoblastic Leukemia
 
Written2007-09Jennifer JS Laffin, Randee J Blumer, Sara J Morrison-Delap, Elizabeth A Rauch, Eric B Johnson, Carol A Diamond, Kate J Thompson, Gordana Raca, Karen D Montgomery, Daniel F Kurtycz
University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pediatrics, University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (JJSL)(CAD); University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (RJB)(SJMD)(EAR)(EBJ)(KJT); University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pathology and Laboratory Medicine, University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (GR)(KDM)(DFK)
Clinics
Age and sex : 4 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 148 x 109/L ; Hb : 9.8 g/dL ; platelets : 13 x 109/L; blasts : peripheral % (60).
Bone marrow : 100%
Cyto pathology classification
Cytology : L2
Immunophenotype : NK+, CD2, CD3, CD4, CD5, CD7, CD8, and TdT+
Precise diagnosis : Acute Lymphoblastic Leukemia, L2
Survival
Date of diagnosis: 02-2006
Treatment : chemotherapy (intrathecal and systemic), cranial X-ray therapy, and allogenic stem cell transplant
Relapse : + central nervous system (8/06 with cytogenetics) and bone marrow relapse
Status : Alive 08-2007
Survival : 31 month(s)
Karyotype
Sample : diagnostic sample was of bone marrow ; culture time : analysis of diagnostic sample was performed on overnight colcemid, 18-hour and 72-hour cultures ; banding : 350 band level
Results : 46,XX,t(7;9)(q34;q31~q32)[16]/46,XX[4]
Karyotype at relapse : Date: 08-2006; Result: 46,XX,del(6)(q21),t(7;9)(q34;q31~q32)[cp2]/46,XX[19]
Partial karyotypes of metaphases from diagnostic sample overnight colcemid culture.
Comments
The patient presented in this case report has features consistent with other reported cases of T cell acute lymphoblastic leukemia (T-ALL) with t(7;9)(q34;q32) involving the TCRbeta locus on 7q34 and the TAL2 gene on 9q34. In particular, review of the literature revealed a case in a 3 year old male with similar clinical and hematological findings and the same additional cytogenetic anomaly, del(6)(q21). Approximately 60% of clinically normal individuals have t(7;9)(q34;q32) created by V(D)J recombination which uses a fortuitous recombination site (RSS) located 3'of the TAL2 oncogene. In T-ALL affected individuals a rare second rearrangement occurs between the junction point of the original t(7;9) and Jbeta2. This brings the TAL2 gene under the control of TCRbeta enhancer, and leads to its' inappropriate expression.
Internal links
Atlas Cardt(7;9)(q34;q32)
Bibliography
Clinical and biologic characterization of T-cell neoplasias with rearrangements of chromosome 7 band q34.
Smith SD, Morgan R, Gemmell R, Amylon MD, Link MP, Linker C, Hecht BK, Warnke R, Glader BE, Hecht F
Blood. 1988 ; 71 (2) : 395-402.
PMID 2962650
 
Distinct t(7;9)(q34;q32) breakpoints in healthy individuals and individuals with T-ALL.
Marculescu R, Vanura K, Le T, Simon P, Jäger U, Nadel B
Nature genetics. 2003 ; 33 (3) : 342-344.
PMID 12567187
 

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