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Childhood myelodysplastic syndromes

Written1997-07Jean-Loup Huret, Claude Léonard
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France

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ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1101

Clinics and Pathology

Disease very heterogeneous:

I- idiopathic MDS

II- secondary MDS: to previous chemo- and/or radio-therapy

III- 'genetic MDS': cases associated with a congenital genetic disease, such as:
-neurofibromatosis type 1 (Von Recklinhausen) (MIM 16220): an hamartoneoplastic syndrome Kostmann syndrome (MIM 20270): also called congenital neutropenia
-Bloom syndrome (MIM 21090): a chromosome instability syndrome Dubowitz syndrome (MIM 22337): mimicks Bloom's, but without chromosome instability
-Fanconi anaemia (MIM 22765): a chromosome instability syndrome
-Schwachman syndrome (MIM 26040): with pancreatic insufficiency, and risksof leukaemia
-Pearson disease (MIM 26056) and other mitochondrial diseases: they often share pancreatic insufficiency, bone marrow pancytopenia with myelodysplastic features but maintained polyclonality, muscular and other ubiquitous manifestations
-familial monosomy 7
-familial platelet storage pool deficiency
-unbalanced constitutional karyotypes, including +21, +8,del(11q), del(21q) miscellaneous conditions.

Phenotype / cell stem origin RA, RARS (very rare) , RAEB, RAEBT, CMML, 'Juvenile CML', 'Infantile Monosomy 7', 'non classifiable cases according to the FAB'; with variable proportions according to the studies
Epidemiology 10% of haematological malignancies in children; median age: 2 to 5 yrs; sex ratio: balanced for some, male predominance (in RAEB±T or CMML) for others
Prognosis CR is obtained; however, median survival is about 3 yrs, while 1/3 of the cases may be considered as cured; good prognostic features are: young age, female sex, normal karyotype, and some of the genetic predisposing factors; worse prognosis is found in secondary MDS, RAEB and RAEBT, cases with +8, +19, t(1;7).


Cytogenetics Morphological a normal karyotype or a monosomy 7 (intermediate prognosis) are found in 30% -or more- of cases each; others are: +8, +21, t(1;7), del(6q) ...


Forty-four cases of childhood myelodysplasia with cytogenetics, documented by the Groupe Français de Cytogénétique Hématologique (GFCH).
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1997 ; 11 (9) : 1478-1485.
PMID 9305601
Morphologic, immunologic, and cytogenetic classification of acute myeloid leukemia and myelodysplastic syndrome in childhood: a report from the Childrens Cancer Group.
Barnard DR, Kalousek DK, Wiersma SR, Lange BJ, Benjamin DR, Arthur DC, Buckley JD, Kobrinsky N, Neudorf S, Sanders J, Miller LP, Shina DC, Hammond GD, Woods WG
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 5-12.
PMID 8558938
Childhood myelodysplasia: suggested classification as myelodysplastic syndromes based on laboratory and clinical findings.
Brandwein JM, Horsman DE, Eaves AC, Eaves CJ, Massing BG, Wadsworth LD, Rogers PC, Kalousek DK
The American journal of pediatric hematology/oncology. 1990 ; 12 (1) : 63-70.
PMID 2309981
Myelodysplastic syndromes in childhood. Report of 21 patients from Italy and West Germany.
Creutzig U, Cantù-Rajnoldi A, Ritter J, Romitti L, Odenwald E, Conter V, Riehm H, Masera G
The American journal of pediatric hematology/oncology. 1987 ; 9 (4) : 324-330.
PMID 3439582
Myelodysplastic syndromes in childhood--classification, epidemiology, and treatment.
Hasle H
Leukemia & lymphoma. 1994 ; 13 (1-2) : 11-26.
PMID 8025513
Myelodysplastic syndromes in childhood: a population based study of nine cases.
Hasle H, Jacobsen BB, Pedersen NT
British journal of haematology. 1992 ; 81 (4) : 495-498.
PMID 1390234
Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions.
Hasle H, Kerndrup G, Jacobsen BB
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (9) : 1569-1572.
PMID 7658725
Analysis of karyotype, SCE, and point mutation of RAS oncogene in Indian MDS patients.
Mansoor AM, Bharadwaj TP, Sethuraman S, Chandy M, Pushpa V, Kamada N, Murthy PB
Cancer genetics and cytogenetics. 1993 ; 65 (1) : 12-20.
PMID 8431911
Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system.
Passmore SJ, Hann IM, Stiller CA, Ramani P, Swansbury GJ, Gibbons B, Reeves BR, Chessells JM
Blood. 1995 ; 85 (7) : 1742-1750.
PMID 7703482
Primary myelodysplastic syndrome in children: the clinical experience in 33 cases.
Tuncer MA, Pagliuca A, Hicsonmez G, Yetgin S, Ozsoylu S, Mufti GJ
British journal of haematology. 1992 ; 82 (2) : 347-353.
PMID 1419817
Myelodysplasia and acute megakaryoblastic leukemia in Down's syndrome.
Zipursky A, Thorner P, De Harven E, Christensen H, Doyle J
Leukemia research. 1994 ; 18 (3) : 163-171.
PMID 8139285


This paper should be referenced as such :
Lï_onard, C ; Huret, JL
Childhood myelodysplastic syndromes
Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):7-8.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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