der(1;18)(q10;q10) in a pediatric patient with cytopenias
2013-07-01 Adriana Zamecnikova, Soad Al Bahar AffiliationKuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Main items
-
Clinics case report
Age
9 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
4.5 (neutrophils = 55%, eosinophils = 2%, lymphocytes = 32%, monocytes = 10%, atypical lymphocytes = 1%)
Hb
11.6
Platelets
149
Blasts
1
Bone marrow
Bone marrow studies showed myeloid maturation arrest, intermittent neutropenia with normal erythropoiesis and megakaryocytes.
Cyto path
Cytology
NA
Immunophenotype
Not done
Precise diagnosis
MDS - unclassified
Survival data
Date diagnosis
03-2012
Treatment
No therapy
Treatment relat death
-
Relapse
-
Status
A
Date last follow
06-2012
Survival
12+
Karyotype
Sample
Bone marrow
Culture time
24
Banding
GTG
Results
46,XY,+1,der(1;18)(q10;q10) [5]/ 46,XY [25]
Mol cytogenet technics
Fluorescence in situ hybridization applying the LSI 1p36/1q25 probe (Abbott).
Mol cytogenet results
Two signals for 1p36 locus with 3 signals for 1q25 locus in 20% of bone marrow cells.
Images
(A) Partial karyotype of the patient showing the der(18)t(1;18)(q10;q10). (B) C-banded partial karyotype showing the der(1;18)(q10;q10) chromosome. (C) Fluorescence in situ hybridization with LSI 1p36/1q25 probe (Abott) showing 3 copies of the 1q25 locus in two nuclei (green signal; arrow).
Comments section
Comments
This study reports the presence of an unbalanced translocation between chromosome 1 and chromosome 18 in a in a pediatric patient with persistent thrombocytopenia and intermittent neutropenia. Unbalanced translocations involving the long arm of chromosome 1 and different partners are recurrent cytogenetic abnormalities, mainly reported in myeloid neoplasms. Centromeric fusion between chromosome 1 and chromosome 18, leading to a gain of 1q and loss of 18p, is rarely observed. This abnormality is relatively restricted to myelodysplastic syndromes and myloproliferative disorders, indicating that gain of 1q and/or loss of 18p should be relevant for neoplastic transformation in these diseases.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8630904 | 1995 | Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and "jumping translocations" of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma. | Sawyer JR et al |
| 7625446 | 1995 | Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization. | Sawyer JR et al |
| 8780557 | 1996 | Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and "jumping translocations" of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma. | Polito P et al |
| 11454427 | 2001 | Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders. | Wan TS et al |
| 20002154 | 2010 | Chromosome 1 abnormalities in myeloid malignancies: a literature survey and karyotype-phenotype associations. | Caramazza D et al |
Citation
Adriana Zamecnikova, Soad Al Bahar
der(1;18)(q10;q10) in a pediatric patient with cytopenias
Atlas Genet Cytogenet Oncol Haematol. 2013-07-01
Online version: http://atlasgeneticsoncology.org/case-report/208869/der(1
