t(1;16)(q11-12;q11) presented as a der(16)t(1;16) in a patient with acute lymphoblastic leukemia.
2007-05-01 Adriana Zamecnikova AffiliationKuwait Cancer Control Center, Lab of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
56 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
213
Hb
9.6
Platelets
23
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 path
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 data
Date diagnosis
08-2006
Treatment
Methotrexate, Ara-C, Hyper-CVAD protocol.
Complete remission
+
Treatment relat death
-
Relapse
-
Phenotype relapse
-
Status
A
Date last follow
(04-2007)
Survival
9 +
Karyotype
Sample
BM
Culture time
24
Banding
G-band
Results
46,XY,der(16)t(1;16)(q11-12;q11) [20]
Mol cytogenet 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).
Mol cytogenet 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 molec studies
Technics
RT-PCR for BCR-ABL
Results
The BCR-ABL transcript was negative by the conventional method of molecular analysis.
Images
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 section
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 7850745 | 1995 | 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 et al |
| 7786773 | 1995 | 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 et al |
Citation
Adriana Zamecnikova
t(1;16)(q11-12;q11) presented as a der(16)t(1;16) in a patient with acute lymphoblastic leukemia.
Atlas Genet Cytogenet Oncol Haematol. 2007-05-01
Online version: http://atlasgeneticsoncology.org/case-report/208822/chromosome-explorer/tumors-explorer/welcome
