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(Paper co-edited with the European LeukemiaNet)
der(1;18)(q10;q10) in a pediatric patient with cytopenias
Written2013-07Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait
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
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
Date of diagnosis: 03-2012
Treatment : No therapy
Treatment related death : -
Relapse : -
Status : Alive 06-2012
Survival : 12 month(s)
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.
(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).
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 Cardt(1;18)(q10;q10)
Case Reportder(1;18)(q10;q10) in a patient with AML following essential thrombocythemia
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, Swanson CM, Koller MA, North PE, Ross SW.
Cancer. 1995 Oct 1;76(7):1238-44.
PMID 8630904
Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.
Sawyer JR, Swanson CM, Wheeler G, Cunniff C.
Am J Med Genet. 1995 Mar 27;56(2):203-9.
PMID 7625446
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, Canzonieri V, Cilia AM, Gloghini A, Carbone A, Gaidano G.
Cancer. 1996 Sep 1;78(5):1142-4.
PMID 8780557
Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders.
Wan TS, Ma SK, Au WY, Chan LC.
Cancer Genet Cytogenet. 2001 Jul 1;128(1):35-8.
PMID 11454427
Chromosome 1 abnormalities in myeloid malignancies: a literature survey and karyotype-phenotype associations.
Caramazza D, Hussein K, Siragusa S, Pardanani A, Knudson RA, Ketterling RP, Tefferi A.
Eur J Haematol. 2010 Mar;84(3):191-200. doi: 10.1111/j.1600-0609.2009.01392.x. Epub 2009 Nov 30.
PMID 20002154


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