CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
der(1;18)(q10;q10) in a pediatric patient with cytopenias |
Written | 2013-07 | Adriana Zamecnikova, Soad Al Bahar |
Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait |
Clinics |
Age and sex : | 9 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 : 4.5 x 109/L ((neutrophils = 55% eosinophils = 2% lymphocytes = 32% monocytes = 10% atypical lymphocytes = 1%)); Hb : 11.6 g/dL ; platelets : 149 x 109/L; blasts : 1 % . |
Bone marrow : Bone marrow studies showed myeloid maturation arrest, intermittent neutropenia with normal erythropoiesis and megakaryocytes. |
Cyto pathology classification |
Cytology : NA |
Immunophenotype : Not done |
Precise diagnosis : MDS - unclassified |
Survival |
Date of diagnosis: 03-2012 |
Treatment : No therapy |
Treatment related death : - |
Relapse : - |
Status : Alive 06-2012 |
Survival : 12 month(s) |
Karyotype |
Sample : Bone marrow ; culture time : 24 h ; banding : GTG |
Results : 46,XY,+1,der(1;18)(q10;q10) [5]/ 46,XY [25] |
Other molecular cytogenetics technics : Fluorescence in situ hybridization applying the LSI 1p36/1q25 probe (Abbott). |
Other molecular cytogenetics results : Two signals for 1p36 locus with 3 signals for 1q25 locus in 20% of bone marrow cells. |
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(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 |
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. |
Internal links |
Atlas Card | t(1;18)(q10;q10) |
Case Report | der(1;18)(q10;q10) in a patient with AML following essential thrombocythemia |
Bibliography |
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PMID 11454427 |
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Citation |
This paper should be referenced as such : |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Reports/der0118q10q10CytZamecID100071.html |
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