Atlas of Genetics and Cytogenetics in Oncology and Haematology
| 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. |
 |
| (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 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Reports/der0118q10q10CytZamecID100071.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:21:54 CEST 2017 |
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