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Written2004-08Anita L Hawkins
Johns Hopkins Pathology Cytogenetics Laboratory Baltimore, Baltimore, MD. USA

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1373
Other namesder(7)t(7;14)

Clinics and Pathology

Disease Observed in 3 cases of AML (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 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

Hybrid gene
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.

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.


Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome.
Mohr B, Bornhäuser M, Thiede C, Schäkel 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
Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping.
Veldman T, Vignon C, Schröck E, Rowley JD, Ried T
Nature genetics. 1997 ; 15 (4) : 406-410.
PMID 9090389


This paper should be referenced as such :
Hawkins, AL
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):318-318.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(7;14)(q22;q11)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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