Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written2008-01Marta Susana Gallego
Laboratorio de Citogenetica - Servicio de Genetica - Hospital de Pediatria Prof Dr JPGarrahan, Buenos Aires, Argentina

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1218

Clinics and Pathology

Disease Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
Phenotype / cell stem origin Refractory anemia (RA), refractory anemia with an excess of blasts (RAEB) and AML, FAB subtype M2. A primitive myeloid progenitor is likely to be involved.
Epidemiology Only three cases reported to date: one case with RA, one with RAEB and the other with AML M2. All the patients were adults (more than 65-year old); sex ratio: 2M/1F.
Clinics Splenomegaly, anemia, thrombocytopenia and leukopenia.
Cytology Positive for CD34, CD33, CD13, CD15, HLA-DR.
Prognosis The three patients died. The survival in AML was 4 weeks, in RA 16 months and in RAEB 5 years.


Deletion of ETV6 and CDKN1B sequences were observed in the case of RA.


Note Balanced translocation in the three cases.
Cytogenetics Molecular Metaphase FISH analysis performed on the RA patient, using specific probes (cosmid and YACs) for the 12p region, revealed hemizygous loss of the ETV6 and CDKN1B regions. On the other hand, FISH studies on the RAEB patient showed that the breakpoints in 12p13 mapped inmediately distal to the breakpoint cluster region frequently involved in hematological neoplasms
Additional anomalies The t(8;12)(q12;p13) was observed as a sole anomaly in the RAEB case, and accompanied by an extra der(8) and del(5)(q13q31) in the AML and RA cases respectively.
Variants -

Genes involved and Proteins

Note not yet defined.

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.


FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patient.
Finelli P, Fracchiolla NS, Giardino D, Gottardi G, Deliliers DL, Cortelezzi A, Larizza L, Deliliers GL
Cancer genetics and cytogenetics. 2001 ; 130 (1) : 75-78.
PMID 11672778
Two cases of myeloid disorders and a t(8;12) (q12;p13).
Hernández JM, González MB, García JL, Ferro MT, Gutiérrez NC, Marynen P, San Miguel JF
Haematologica. 2000 ; 85 (1) : 31-34.
PMID 10629588


This paper should be referenced as such :
Gallego, MS
Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):133-133.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(8;12)(q12;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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