Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written1999-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1162

Clinics and Pathology

Disease acute myeloid leukemia (AML) and acute lymphocycic leukemia (ALL)
Phenotype / cell stem origin M2 and M6AML, L2-ALL
Etiology 1 case was a therapy related AML, and the 2 other cases were found in Down syndrome (DS) patients
Epidemiology poorly known: only 3 cases to date; 3 female patients aged 1-13 yrs
Prognosis yet unknown : cases dead at 1 mth and alive at 2 mths+ (2 DS cases), alive at 12 mths+ (therapy related case)


Cytogenetics Morphological found as -18, +der(18)t(1;18)(q25;q23) in 2 of the 3 cases; unbalanced form, with 2 normal chromosomes 1, a der(18), and a normal chromosome 18: --> partial trisomy for 1q25-1qter and monosomy for 18q23-qter; reminiscent of the t(1;19)(q23;p13) unbalanced form

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.


Cytogenetic findings in leukemic cells of 56 patients with constitutional chromosome abnormalities. A cooperative study. Groupe Français de Cytogénétique Hématologique (GFCH).
Cancer genetics and cytogenetics. 1988 ; 35 (2) : 243-252.
PMID 2972356
A second known case of Down syndrome with t(1;18)(q25;q23) in leukemic cells.
Brozek I, Babińska M, Limon J, Zaborowska-Sol M, Ploszyńska A, Balcerska A
Cancer genetics and cytogenetics. 1999 ; 110 (2) : 136-137.
PMID 10214363
Two karyotypically independent leukemic clones with the t(8;21) and 11q23 translocation in acute myeloblastic leukemia at relapse.
Hayashi Y, Raimondi SC, Behm FG, Santana VM, Kalwinsky DK, Pui CH, Mirro J Jr, Williams DL
Blood. 1989 ; 73 (6) : 1650-1655.
PMID 2713498


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):155-155.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(1;18)(q25;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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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