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t(8;11)(p12;p15) ?/FGFR1

Written2008-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
Atlas_Id 1521

Clinics and Pathology

Disease Acute meyloid leukaemia (AML)
Epidemiology Two cases to date, two male patients, one was aged 50 yrs, and had a M4-AML (Larson et al 1983; Sohal et al, 2001).
Prognosis One patient died "following chemotherapy", the other one at 19 mths after diagnosis.

Cytogenetics

Additional anomalies +8, i(17q) in one case, del(9q) in the other case.

Genes involved and Proteins

Note In one case (Sohal et al, 2001), the genes were studied. FGFR1 was found involved; the breakpoint on the other chromosome fell within or near NUP98, but the involvement of NUP98 could not be proved.
Gene Name FGFR1
Location 8p12
Protein Receptor tyrosine kinase; contains an extracellular ligand-binding domain with Ig-like structures, a transmembrane domain, and a cytosolic tyrosine kinase (TK) domain. Involved in signal transduction

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 Genet Cytogenet. 1983 Nov;10(3):219-36.
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 Oct;32(2):155-63.
PMID 11550283
 

Citation

This paper should be referenced as such :
Huret, JL
t(8;11)(p12;p15)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(7):517-517.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0811p12p15ID1521.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes FGFR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;11)(p12;p15) ?/FGFR1

External links

Mitelman databaset(8;11)(p12;p15) [Case List]    t(8;11)(p12;p15) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9967/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(8;11)(p12;p15) ?/FGFR1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Fri Jun 30 11:23:26 CEST 2017


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