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t(1;18)(q10;q10)

Written2002-09Edmond SK Ma, Thomas SK Wan
Hematology Division, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, P.R. China
Updated2013-03Adriana Zamecnikova
Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1254
 
  Partial G-banded karyotypes showing the whole-arm chromosome translocation der(1;18)(q10)(q10).

Clinics and Pathology

Disease Only 5 cases of hematological malignancy with der(1;18) are reported in the literature. Four cases of chronic myeloproliferative disorders (CMD) (one case with myelodysplastic syndrome, one patient with CMD, unclassifiable, one with essential thrombocythemia (ET) coexistent with the JAK2 V617F mutation, one idiopathic myelofibrosis (IMF)) and one patient was diagnosed with multiple myeloma.
Phenotype / cell stem origin Unknown, but may involve a myeloid progenitor cell as both reported cases can be grouped under myeloid malignancy.
Clinics The first case was a 23-year old male who presented as myelodysplastic syndrome that rapidly progressed to acute myeloid leukemia, and died of neutropenic sepsis at induction phase. The second case was a 65-year old female diagnosed as chronic myeloproliferative disorder, unclassifiable, and run a chronic stable clinical course for years. She however suffered from recurrent pyogenic cutaneous infection. The patient with essential thrombocythemia was a 75-year-old woman receiving ranimustine therapy. The case with IMF was a male with a history of polycythemia vera (PV) and normal karyotype at diagnosis.
Prognosis Owing to the small number of cases reported, the prognostic implication of der(1;18)(q10;q10) remains to be defined. The clinical outcome of the two reported cases with detailed clinica course were markedly different, with one having rapid downhill course and short survival whereas the other one having chronic disease.

Cytogenetics

Cytogenetics Morphological Found in the unbalanced form -18, + der(1;18), with trisomy for 1q and monosomy for 18p.
Additional anomalies Sole abnormality in 3 of 4 patients with chronic myeloproliferative disorders; +22 reported as additional abnormality in a post-polycythemic myelofibrosis patient. Patient with multiple myeloma had a complex karyotype with der(8)t(8;11)(q24;q13)ins(8;22)(q24;q11q11) and numerical changes.

Genes involved and Proteins

Note Genes involved are unknown. Mechanistically, either trisomy 1q or monosomy 18p that results from the unbalanced translocation may potentially contribute to leukemogenesis. Whole arm chromosome translocations resulting in trisomy of the long arm of chromosome chromosome 1 have been identified with several partner chromosomes including chromosomes 7, 9, 13, 15, 16 and Y in BCR-ABL-negative myeloproliferative neoplasms (MPN). While the underlying mechanisms for these chromosomal alterations are unclear, it is likely that chromosomes with large constitutive heterochromatin bands such as chromosome 1 may be at risk of centromeric instability and be predisposed to centromeric fusion with other chromosomes.
These observations suggest that a gene dosage effect of certain chromosome 1q regions, analogous to numerical aberrations may be involved in disease pathogenesis. Additionally, deletion of 18p may also contribute to clonal proliferation through loss of putative tumor suppressor genes, analogous to numerical aberrations and deletions associated with both chronic and advanced phases of MPN. In support of this contention, deletions on chromosome 18p as a result of der(18)t(9;18)(p13;p11) and der(9;18)(p10;q10) associated with the JAK2 V617F mutation have been described with phenotypes of transitional PV and IMF, suggesting that 18p deletion may be associated with myeloproliferative disorders showing a high propensity to transformation.
While the association of derivative (1;18) with JAK2 V617F still remain elusive, it is possible that that patients having this chromosome abnormality together with the JAK2 V617F mutation may belong to the subgroup of patients with highly proliferative phenotype of MPN which potentially transforms into acute myeloid leukemia.

Result of the chromosomal anomaly

Hybrid gene
Note This abnormality yields the net result of an extra / third copy of chromosome 1q and a deletion of chromosome 18p.
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.
Case Report der(1;18)(q10;q10) in a patient with AML following essential thrombocythemia
Case Report der(1;18)(q10;q10) in a pediatric patient with cytopenias

Bibliography

Derivative (1;18)(q10;q10) in essential thrombocythemia.
Azuma T, Yamanouchi J, Inoue K, Kohno M, Narumi H, Fujiwara H, Yakushijin Y, Hato T, Yasukawa M.
Cancer Genet Cytogenet. 2010 May;199(1):62-4. doi: 10.1016/j.cancergencyto.2010.02.001.
PMID 20417872
 
Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors.
Gabrea A, Martelli ML, Qi Y, Roschke A, Barlogie B, Shaughnessy JD Jr, Sawyer JR, Kuehl WM.
Genes Chromosomes Cancer. 2008 Jul;47(7):573-90. doi: 10.1002/gcc.20563.
PMID 18381641
 
Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates.
Gangat N, Strand J, Lasho TL, Finke CM, Knudson RA, Pardanani A, Li CY, Ketterling RP, Tefferi A.
Eur J Haematol. 2008 Mar;80(3):197-200. Epub 2007 Dec 7.
PMID 18081705
 
Conventional cytogenetics in myelofibrosis: literature review and discussion.
Hussein K, Van Dyke DL, Tefferi A.
Eur J Haematol. 2009 May;82(5):329-38. doi: 10.1111/j.1600-0609.2009.01224.x. Epub 2009 Jan 9. (REVIEW)
PMID 19141119
 
A der(18)t(9;18)(p13;p11) and a der(9;18)(p10;q10) in polycythemia vera associated with a hyperproliferative phenotype in transformation to postpolycythemic myelofibrosis.
Larsen TS, Hasselbalch HC, Pallisgaard N, Kerndrup GB.
Cancer Genet Cytogenet. 2007 Jan 15;172(2):107-12.
PMID 17213018
 
Robertsonian translocation as an acquired karyotypic abnormality in leukaemia.
Ma SK, Chow EY, Wan TS, Chan LC.
Br J Haematol. 1997 Jul;98(1):213-5. (REVIEW)
PMID 9233587
 
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
 

Citation

This paper should be referenced as such :
Zamecnikova, A
t(1;18)(q10;q10)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(10):716-717.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0118q10q10ID1254.html
History of this paper:
Ma, ESK ; Wan, TSK. t(1;18)(q10;q10). Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):33-34.
http://documents.irevues.inist.fr/bitstream/handle/2042/37933/09-2002-t0118q10q10ID1254.pdf


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;18)(q10;q10)

External links

Mitelman databaset(1;18)(q10;q10) [Case List]    t(1;18)(q10;q10) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(1;18)(q10;q10)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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