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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.
 
Written2007-05Adriana 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 Cardt(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
 

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