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i(5)(p10) in acute myeloid leukemia

Identity

Note The isochromosome of the short arm of chromosome 5 - i(5)(p10) - has only been described in a few cases of myeloid leukemia. So far it has not been described as the sole abnormality. In four cases the i(5)(p10) was accompanied by trisomy 8, in three cases the i(5)(p10) occurred in addition to two normal chromosomes 5. An i(5)(p10) was also described in cases with a complex aberrant karyotype
 
  i(5)(p10) G-banding - Claudia Schoch

Clinics and Pathology

Phenotype / cell stem origin Classified as AML, predominantly AML M5a
Etiology Unclear
Epidemiology Mean age 40-50 yrs
Clinics Blood data WBC 8-40 x 109l, platelet counts 15-114 x 109l
Cytology Typical cytomorphological features of AML M5a with more than 80% of bone marrow cells being monoblasts showing strong cytochemical reaction with nonspecific esterase. Expression of CD33 and CD65.
Treatment According to AML protocols.
Prognosis Unclear due to low number of cases, seems to be poor.

Cytogenetics

Cytogenetics Morphological Isochromosome of the short arm of chromosome 5
Additional anomalies trisomy 8, gain of chromosome 5

Genes involved and Proteins

Note Gene dosage effect of genes located on the short arm of chromosome 5?

External links

Other databasei(5)(p10) in acute myeloid leukemia Mitelman database (CGAP - NCBI)

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.

Bibliography

Chromosomal breakpoints and changes in DNA copy number in refractory acute myeloid leukemia.
El-Rifai W, Elonen E, Larramendy M, Ruutu T, Knuutila S
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1997 ; 11 (7) : 958-963.
PMID 9204975
 
Cytogenetic analysis of de novo acute myeloid leukemia with trilineage myelodysplasia in comparison with myelodysplastic syndrome evolving to acute myeloid leukemia.
Tamura S, Takemoto Y, Hashimoto-Tamaoki T, Mimura K, Sugahara Y, Senoh J, Furuyama JI, Kakishita E
International journal of oncology. 1998 ; 12 (6) : 1259-1262.
PMID 9592183
 
Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations: a use of double fusion signal FISH and spectral karyotyping.
Markovic VD, Bouman D, Bayani J, Al-Maghrabi J, Kamel-Reid S, Squire JA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (6) : 1157-1160.
PMID 10865986
 
Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.
Schoch C, Bursch S, Kern W, Schnittger S, Hiddemann W, Haferlach T
Cancer genetics and cytogenetics. 2001 ; 127 (1) : 85-88.
PMID 11408074
 

Contributor(s)

Written02-2005Claudia Schoch

Citation

This paper should be referenced as such :
Schoch C . i(5)(p10) in acute myeloid leukemia. Atlas Genet Cytogenet Oncol Haematol. February 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/i5pID1376.html

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indexed on : Sat Dec 6 18:01:53 2008


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