| Identity |
| Other names | der(7)t(7;14) |
| Clinics and Pathology |
| Disease | Observed in 3 cases of ANLL (one specified as secondary AML- M2, other 2 cases not specified), in one case as sole anomaly (subclone with trisomy 8 also). |
| Phenotype / cell stem origin | Presumably myeloid. |
| Epidemiology | Uncommon; all 3 reported cases were elderly (ages 62, 63, 70; two female and one male). |
| Cytogenetics |
| Cytogenetics Morphological | Since only der(7) was seen in 2/3 cases, this is likely the critical juncture of the translocation. Breakpoint on 7q may in fact be 7q31 (by FISH) but appears to be q22 by limited G-band analysis; 14 breakpoint is near centromere but not clearly defined by G-banding. |
| Cytogenetics Molecular | First identified as a recurrent abnormality by spectral karyotyping (SKY). The 7q breakpoint may be slightly more distal than indicated by G-bands (q22). FISH with commercial probe for D7S486 and D7S522 (7q31, control region probe for Williams Syndrome) in one case showed signal retained on der(7), suggesting breakpoint distal to this location. |
| Additional anomalies | In all 3 cases, +8 was seen in at least a subclone. In the 2 cases with complex karyotypes, only the der(7) was seen, and -5 or der(5) was also present. |
| Genes involved and Proteins |
| Note | unknown at present |
| Result of the chromosomal anomaly |
| Note | Critical region is likely on the der(7) if a fusion gene, or, the critical event may be loss of region distal to 7q22/q31 and the translocation with 14 be only a mechanism for accomplishing the loss. |
| External links |
| Other database | t(7;14)(q22;q11) | Mitelman database (CGAP - NCBI) | |
| Other database | t(7;14)(q22;q11) | 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 |
| Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. |
| Veldman T, Vignon C, Schrck E, Rowley JD, Ried T |
| Nature genetics. 1997 ; 15 (4) : 406-410. |
| PMID 9090389 |
| Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome. |
| Mohr B, Bornh§user M, Thiede C, Sch§kel U, Schaich M, Illmer T, Pascheberg U, Ehninger G |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (6) : 1031-1038. |
| PMID 10865969 |
| Contributor(s) |
| Written | 08-2004 | Anita L Hawkins |
| Johns Hopkins Pathology Cytogenetics Laboratory Baltimore, Baltimore, MD. USA |
| Citation |
| This paper should be referenced as such : |
| Hawkins AL . t(7;14)(q22;q11). Atlas Genet Cytogenet Oncol Haematol. August 2004 . URL : http://AtlasGeneticsOncology.org/Genes/t0714q22q11ID1373.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:06:57 2008 |
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