Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| t(1;16)(q11-12;q11) presented as a der(16)t(1;16) in a patient with acute lymphoblastic leukemia. |
| Written | 2007-05 | Adriana Zamecnikova |
| Kuwait Cancer Control Center, Lab of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait |
| Clinics |
| Age and sex : | 56 year(s) old male patient. |
| Previous History : | no preleukemia |
| no previous malignant disease | |
| no inborn condition of note |
| Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement |
| Blood |
| WBC : 213 x 109/L ; Hb : 9.6 g/dL ; platelets : 23 x 109/L; blasts : 93 % . |
| Bone marrow : Markedly hypercellular, normal granulopoiesis depressed, near total replacement by blasts with high N/C ratio, agranular lightly basophilic cytoplasm, Poly 2, Lymp 4, Eos 1. PAS positive, SBB negative. |
| Cyto pathology classification |
| Cytology : Acute Lymphoblastic Leukemia |
| Immunophenotype : Positive for CD45, CD10, CD19, CD34, HLADR, TdT. |
| Rearranged Ig Tcr : - |
| Pathology : - |
| Electron microscopy : - |
| Precise diagnosis : Acute Lymphoblastic Leukemia, L1 (pre-B). |
| Survival |
| Date of diagnosis: 08-2006 |
| Treatment : Methotrexate, Ara-C, Hyper-CVAD protocol. |
| Complete remission was obtained |
| Treatment related death : - |
| Relapse : - |
| Phenotype at relapse : - |
| Status : Alive (04-2007) |
| Survival : 9 month(s) |
| Karyotype |
| Sample : BM ; culture time : 24 h ; banding : G-band |
| Results : 46,XY,der(16)t(1;16)(q11-12;q11) [20] |
| Other molecular cytogenetics technics : Fluorescence in situ hybridisation (FISH), with LSI CBFB DC and WCP probes for chromosome 1 and 16 (WPC DNA Probe 1, SpectrumOrange; WPC DNA Probe 16, SpectrumGreen) obtained from Vysis (Downers Grove IL, USA). |
| Other molecular cytogenetics results : The analysis with LSI CBFB DC probe revealed one normal signal on the CBFB allele in the normal chromosome 16, while on the der(16) no red/green signal was detected, confirming the rearrangement of 16q. Hybridization with WCP 1 SpectrumOrange and WCP 16 SpectrumGreen probes revealed 2 normal chromosomes 1, one normal chromosome 16 and confirmed the der(16)t(1;16). |
| Other molecular studies |
| technics : RT-PCR for BCR-ABL |
| results : The BCR-ABL transcript was negative by the conventional method of molecular analysis. |
 |
| Partial karyotypes demonstrating 2 normal chromosomes 1, one normal chromosome 16 and the der(16)t(1;16). C-banded chromosomes on the right side. |
 |
| LSI CBFB DC, Break Apart Rearrangement Probe exhibiting one normal signal on the CBFB allele on normal chromosome 16. |
 |
| Whole chromosome painting showing 2 normal chromosomes 1 and the rearrangened chromosomes 1 and 16. |
| Comments |
| A 47-years old Filipino male was diagnosed with ALL in August 2006. Cytogenetic analysis of the bone marrow sample revealed a clearly abnormal chromosome 16 and the karyotype 46,XY,-16,+der(16)t(1;16)(q11-12;q11) was identified in all the 30 examined metaphases. Recurrent whole-arm translocation of 1q to the centromeric region of chromosome 16 has been detected in a number of malignancies, but only occasionally described in hematological malignancies. The previously described 3 MDS, 4 AML and 3 ALL cases with t(1;16)(q11-q12;q11-12) were always unbalanced, suggesting either trisomy of 1q or monosomy of 16q may potentially contribute to leukemogenesis. |
| Internal links |
| Atlas Card | t(1;16)(q11;q11) |
| Bibliography |
| Translocation (1;16) identified by chromosome painting, and PRimed IN Situ-labeling (PRINS). Report of two cases and review of the cytogenetic literature. |
| Hindkjaer J, Hammoudah SA, Hansen KB, Jensen PD, Koch J, Pedersen B |
| Cancer genetics and cytogenetics. 1995 ; 79 (1) : 15-20. |
| PMID 7850745 |
| Der(16)t(1;16)(q11;q11) in myelodysplastic syndromes: a new non-random abnormality characterized by cytogenic and fluorescence in situ hybridization studies. |
| Mugneret F, Dastugue N, Favre B, Sidaner I, Salles B, Huguet-Rigal F, Solary E |
| British journal of haematology. 1995 ; 90 (1) : 119-124. |
| PMID 7786773 |
| Citation |
| This paper should be referenced as such : |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Reports/0116ZamecnikovaID100024.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 17 12:12:13 CEST 2017 |
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