| Written | 2008-07 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 (Fibroblast Growth Factor Receptor 1) |
| Location | 8p11.23 |
| 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 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(8;11)(p12;p15) ?/FGFR1 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jan 27 15:16:51 CET 2020 |
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