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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
A case of Chronic Lymphocytic Leukemia (CLL) with a rare chromosome abnormality: t(1;14;6)(q21;q32;p21), a variant of t(6;14)(p21;q32).
 
Written2007-08Alka Dwivedi, Thomas Casey, Siddharth G Adhvaryu
Cinical and Molecular Cytogenetics Laboratory, Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, 78229-3900, USA (AD)(SGA); Brooke Army Medical Center, Fort Sam Huston, San Antonio, Texas, USA (TC)
Clinics
Age and sex : 57 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes (mildly enlarged nodes (axilla, mediastinum, retroperitoneum and pelvis).); no central nervous system involvement
Blood
WBC : 34.1 x 109/L ( Absolute lymphocyte count = 28 244 x 109/L. The lymphocytes were small and mature in appearance. Rare (less than 1%) prolymphocytes were present.); Hb : 13.2 g/dL ; platelets : 187 x 109/L;
Bone marrow : Variably cellular, areas of aplasia alternating with areas of residual hematopoiesis with 40% cellularity. The cellular areas show an interstitial lymphoid infiltrate comprised of small mature appearing lymphocytes with rare prolymphocytes. No clusters of large lymphocytes are present. No evidence of large cell or prolymphocytic transformation.
Cyto pathology classification
Cytology : Chronic lymphocytic leukemia/Small lymphocytic lymphoma.
Immunophenotype : Bone marrow 05/09/07: CD5+, CD19+, CD20+(dim), CD22+(very dim), CD23+, CD38+, HLA-DR+, surface lambda+(dim), ZAP-70+, CD10-. Matutes score =4 of 5.
Pathology : See bone marrow above.
Electron microscopy : Not performed.
Precise diagnosis : Chronic lymphocytic leukemia/Small lymphocytic lymphoma.
Survival
Date of diagnosis: 06-2005; Original diagnosis made by flow cytometric analysis of peripheral blood on 06/2005. First bone marrow with cytogenetic analysis performed on 05/2007.
Treatment : None to date
Complete remission : None
Treatment related death : -
Relapse : N/A
Status : Alive 04-2007
Karyotype
Sample : Bone marrow ; culture time : 24 h, , 48 and 72 hours ; banding : GTW (G-banding by Trypsin treatment followed by Wright stain).
Results : 46,XX,t(8;10)(p21;q22)c[16]/46,idem,t(1;14;6)(q21;q32;p21),-6,-12,+1-2mar [4]
Karyotype at relapse : N/A
Other molecular cytogenetics technics : Fluorescence In Situ Hybridization (FISH) using Vysis LSI IGH break apart (Cat # 32-191019) on the mataphases, CLL I probe set (LSI ATM/p53) and CLL II probe sets (CEP 12/CEP13q14.3/CEP13q34 probes) (Cat # 32-191025) on interphase nuclei.
Other molecular cytogenetics results : 1. Del 13q34 was observed in 10% cells. All other probes used in CLL I and II probe sets were found to be normal. IGH break-apart probe gave abnormal signal pattern.
2. FISH analysis (Fig. 4) of IGH break-apart probe on G-banded metaphases (Fig. 1) showed the complex translocation, t(1;14;6)(q21;q32;p21). The LSI IgH 3' flanking region (250 kb) is labeled with Spectrum Orange and LSI IgH V 5' region (900 kb) is labeled with Spectrum Green. A normal fusion signal is seen on chromosome 14. A translocation between 14q32 and 6p21 led to the IgH signal being split with der(14) retaining the IgH 3' flanking region (red) and translocation of 5' IgH V region (green) to der (6). Subsequent complex translocations involving chromosomes 1, 14 and 6 are evident by der(14) and der (1) harboring the 1q and 6p regions, respectively.
Other molecular studies
technics : FISH studies on metaphases using LSI IGH break apart probes.
results : FISH analysis confirmed the t(1;14;6)(q21;q32;p21).
Other findings
results : N/A
A representative metaphase showing t(1;14;6) (q21;q32;p21) and other anomalies.
A representative metaphase of PHA stimulated blood culture showing t(8;10) (p12;q22) as the constitutional abnormality.
3a: A representative FISH result showing a normal signal pattern of ATM and p53 loci (ATM loci labeled with Spectrum Green and p53 loci labeled with Spectrum Orange). 3b: A representative FISH result showing a deletion of 13 (q34) (CEP 12, 13 (q14.3) and 13 (q34) labeled with Spectrums Orange, Green and Aqua, respectively).
A representative FISH result confirming the variant t(1;14;6) (q21;q32;p21) using the IGH break apart probe (entire IGH variable region (900kb) labeled with Spectrum Green and IGH 3' flanking region (250 kb) labeled with Spectrum Orange). A normal fusion signal (yellow) is seen on chromosome 14. Abnormal signal pattern for this probe is seen on der (14) retaining the 3'IgH flanking region and translocation of 5'IGH V region to der (6).
Comments
CLL is primarily a B-cell disease represented with the following anomalies; +12, del(11q) and del(17p). Cases of CLL with 14q32 (IGH) rearrangements have been reported. We present here a unique case of CLL showing a variant CCND3:IGH rearrangement in the form of t(1;14;6)(q21;q32;p21). The loss of 6q (indicated by -6) has been reported in CLL. Exact significance of monosomy 12 is not known. Interphase FISH showed del(13)(q34) in 10% cells, the significance of which is not known (Fig 3). Metaphase FISH performed with the LSI IGH break apart probe confirmed the t(1;14;6) (Fig 4).This case does not show the common deletions ( 6q, 13q14.3, 11q22-23 or 17p13) or amplification (trisomy 12).
Call for collaboration
Siddharth G Adhvaryu, Ph.D., FACMG, Clinical and Molecular Cytogenetics Laboratory, Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, Texas-78229, USA; Corresponding Author: Dr Siddharth G Adhvaryu; E mail: ADHVARYU@UTHSCSA.EDU .
Internal links
Atlas Cardt(6;14)(p21;q32)
Case ReportA novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic Leukemia
Bibliography
Genomic aberrations and survival in chronic lymphocytic leukemia.
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
The New England journal of medicine. 2000 ; 343 (26) : 1910-1916.
PMID 11136261
 
Chronic lymphocytic leukemia.
Chiorazzi N, Rai KR, Ferrarini M
The New England journal of medicine. 2005 ; 352 (8) : 804-815.
PMID 15728813
 
Chronic Lymphocytic Leukemia (CLL).
Reddy KS
Atlas Genet Cytogenet Oncol Haematol.May (numero 2005).
 
A novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic leukemia.
Adhvaryu SG, Dwivedi A, Stoll P
Atlas Genet Cytogenet Oncol Haematol..
 

Citation

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