Atlas of Genetics and Cytogenetics in Oncology and Haematology
| 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). |
| Alka Dwivedi, Thomas Casey, Siddharth G Adhvaryu |
| 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 central nervous system involvement |
| Blood |
| WBC : 34.1; Absolute lymphocyte count = 28,244 x 109/L. The lymphocytes were small and mature in appearance. Rare (less than 1%) prolymphocytes were present. x 109/l; Hb : 13.2 g/dl; platelets : 187 x 109/l; |
| 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 : 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 3¹ flanking region (250 kb) is labeled with Spectrum Orange and LSI IgH V 5¹ 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 3¹ flanking region (red) and translocation of 5¹ 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 Card | t(6;14)(p21;q32) |
| Case Report | A 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. |
| Dhner H, Stilgenbauer S, Benner A, Leupolt E, Krber A, Bullinger L, Dhner 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.. |
| Contributor(s) |
| Written | 08-2007 | Alka Dwivedi, Thomas Casey, Siddharth G Adhvaryu |
| Citation |
| This paper should be referenced as such : |
| Dwivedi A, Casey T, Adhvaryu SG . 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).. Atlas Genet Cytogenet Oncol Haematol. August 2007 . URL : http://AtlasGeneticsOncology.org/Reports/0614AdhvaryuID100033.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:09:46 2008 |
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