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t(1;18)(q10;q10)

Identity

 
  der(1;18)(q10;q10) G- banding

Clinics and Pathology

Disease Only two cases of hematological malignancy with der(1;18) are reported in the literature. In both instances der(1;18) occurs as the sole karyotypic abnormality. They are found in two patients suffering from myeloid disorders.
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
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 were markedly different, with one having rapid downhill course and short survival whereas the other one having chronic disease again if necessary

Cytogenetics

Cytogenetics Morphological found in the unbalanced form -18, + der(1;18), with trisomy for 1q and monosomy for 18p.

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. Trisomy 1q, arising through duplication or unbalanced translocations, is a recurrent theme in the myeloid disorders. Examples of such rearrangements include der(1;7)(q10;q10) and der(Y)t(Y;1)(q12;q12). 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.

External links

Other databaset(1;18)(q10;q10) Mitelman database (CGAP - NCBI)
Other databaset(1;18)(q10;q10) CancerChromosomes (NCBI)

Bibliography

Robertsonian translocation as an acquired karyotypic abnormality in leukaemia.
Ma SK, Chow EY, Wan TS, Chan LC
British journal of haematology. 1997 ; 98 (1) : 213-215.
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 genetics and cytogenetics. 2001 ; 128 (1) : 35-38.
PMID 11454427
 

Contributor(s)

Written09-2002Edmond Ma, Thomas Wan

Citation

This paper should be referenced as such :
Ma ESK, Wan TSK . t(1;18)(q10;q10). Atlas Genet Cytogenet Oncol Haematol. September 2002 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0118q10q10ID1254.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 12 18:11:58 2008


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