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t(8;17)(p11;q25) ?/FGFR1

Written2008-08Jean-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 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1202

Clinics and Pathology

Disease Chronic myelogenous leukemia-like (CML-like) disease without BCR-ABL1 rearrangement
Epidemiology Only one case to date, a 29 year old female patient (Lewis et al., 1987; Sohal et al., 2001).
Clinics The patient presented with a CML-like disease with systemic mastocytosis, in transformation to an aggressive disease.

Cytogenetics

Additional anomalies The t(8;17) was the sole anomaly.

Genes involved and Proteins

Note FGFR1 was found involved; the partner is unknown.
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

Mast cell disease followed by leukemia with clonal evolution.
Lewis JP, Welborn JL, Meyers FJ, Levy NB, Roschak T.
Leuk Res. 1987;11(9):769-73.
PMID 3118098
 
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;17)(p12;q25)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(8):588-588.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0817p12q25ID1202.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;17)(p11;q25) ?/FGFR1

External links

Mitelman databaset(8;17)(p11;q25) [Case List]    t(8;17)(p11;q25) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9967/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(8;17)(p11;q25) ?/FGFR1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Thu Jan 12 11:18:45 CET 2017


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