t(8;11)(p11;p15)

Clinics and Pathology

Disease	Acute non lymphocytic leukemia (ANLL)
Note	possibly heterogenous (see data on genes)
Epidemiology	3 cases to date: 1 M1-ANLL, 1 M4-ANLL and 1 case not otherwise specified; two male patients were aged 50 and 64 yrs
Prognosis	one patient died during induction therapy, another one achieved complete remission and was alive at 19 mths+.

Cytogenetics

Cytogenetics Morphological

sole anomaly in 1 case, accompanied with del(9q) in another case.

Genes involved and Proteins

Note

In 8p11: WHSC1L1/NSD3 was proved to be implicated in the translocation in one case, while FGFR1 was (only) suspected to be involved in a second case; this case was analysed with two probes flanking FGFR1 over a distance of about 700 kb; the two probes were found to be split in FISH experiments, indicating that FGFR1 was possibly concerned by the break. However, NDS3 is 107 kb long, is at a distance of only 30 kb from FGFR1, and FGFR1 spans 56 kb; therefore, NDS3 is also a candidate in this case. In 11p15: NUP98 was found to be implicated in the translocation in one case; in the second case, probes flanking NUP98 over a distance of about 1 Mb were used; it is likely that NUP98 is also involved in this case, although the involvement of CARS, 600 kb more telomeric than NUP98, is not excluded.

Gene Name	WHSC1L1/NSD3
Location	8p11
Protein	suggested role in chromatin remodeling.

Gene Name	NUP98
Location	11p15
Protein	nuclear membrane localisation; nucleoporin: associated with the nuclear pore complex; role in nucleocytoplasmic transport processes

Result of the chromosomal anomaly

Hybrid gene

Transcript	a 5' NUP98 - 3' NSD3 fusion transcript was detected; the reciprocal transcript was also expressed. The breakpoints occurred between exons 11 ad 12 of NUP98 and betweeen exons 3 and 4 in WHSC1L1/NSD3.

External links

Other database	t(8;11)(p11;p15)	Mitelman database (CGAP - NCBI)
Other database	t(8;11)(p11;p15)	CancerChromosomes (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

The predictive value of initial cytogenetic studies in 148 adults with acute nonlymphocytic leukemia: a 12-year study (1970-1982).

Larson RA, Le Beau MM, Vardiman JW, Testa JR, Golomb HM, Rowley JD

Cancer genetics and cytogenetics. 1983 ; 10 (3) : 219-236.

PMID 6627222

Identification of four new translocations involving FGFR1 in myeloid disorders.

Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S, Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V, Sinclair P, Wilkins BS, van den Berg H, Vanstraelen D, Goldman JM, Cross NC

Genes, chromosomes & cancer. 2001 ; 32 (2) : 155-163.

PMID 11550283

NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).

Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T, Negrini M, Martelli MF, Mecucci C

Blood. 2002 ; 99 (10) : 3857-3860.

PMID 11986249

Contributor(s)

Written	03-2005	Jean Loup Huret

Citation

This paper should be referenced as such :

Huret JL . t(8;11)(p11;p15). Atlas Genet Cytogenet Oncol Haematol. March 2005 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0811p11p15ID1200.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon May 12 18:12:37 2008

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