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Written2002-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1247

2. Clinics and Pathology

Disease only 3 cases of myelodysplastic syndrome (MDS) and 1 case of non Hodgkin lymphoma (NHL). The 3 MDS cases were: 2 refractory anemia with excess of blasts (RAEB), evolving towards M2 acute myeloid leukemia (AML), and 1 refractory anemia with ringed sideroblasts (RARS) evolving towards M6-AML; the NHL case was a VIH-associated large cell NHL.
Epidemiology the MDS cases were aged 59-74 yrs, the NHL patient was 29 yr old; sex ratio: 4M/0F.
Prognosis survival in MDS: 13 mths, 15 mths+, 54 mths+; death of an unrelated cause in the NHL.

3. Cytogenetics

Cytogenetics Morphological presents as a der(16) t(1;16) in the 3 MDS
Additional anomalies sole anomaly in 1 MDS, accompanied with +8 in the 2 other MDS cases; the NHL case exhibited a t(8;14)(q24;q11) and a complex caryotype; i.e. probable primary anomaly in MDS, secondary anomaly in the NHL case

4. Genes involved and Proteins

Note genes involved are unknown.

5. 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.

6. Bibliography

Der(16)t(1;16)(q11;q11) in myelodysplastic syndromes: a new non-random abnormality characterized by cytogenic and fluorescence in situ hybridization studies.
Mugneret F, Dastugue N, Favre B, Sidaner I, Salles B, Huguet-Rigal F, Solary E
British journal of haematology. 1995 ; 90 (1) : 119-124.
PMID 7786773
Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and jumping translocations of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma.
Sawyer JR, Swanson CM, Koller MA, North PE, Ross SW
Cancer. 1995 ; 76 (7) : 1238-1244.
PMID 8630904

7. Citation

This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):230-230.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t0116q11q11ID1247.html

8. Translocations implicated (Data extracted from papers in the Atlas)


9. External links

Mitelman databaset(1;16)(q11;q11) [Case List]    t(1;16)(q11;q11) [Transloc-MCList]
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
All articlesautomatic search in PubMed

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indexed on : Wed Nov 28 16:17:49 CET 2018

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