Notice bibliographique
Résumé
To the Editor.—We read with great interest the paper of Drs Elghetany and Alter in the April 2002 issue of the Archives.1 Shwachman-Diamond syndrome (SDS) is an autosomal recessive multisystemic disorder characterized by varying degrees of marrow failure and a high propensity for malignant myeloid transformation into myelodysplastic syndromes (MDS) and acute myeloid leukemia.2–4 The authors found p53 overexpression in bone marrow biopsies from 9 patients with SDS. None of the bone marrow biopsies from patients with acquired aplastic anemia or acquired cytopenias and none of those from individuals in the control group had overexpression of p53 protein. Very interestingly, p53 overexpression in patients with SDS was comparable to p53 results in 46 bone marrow specimens from patients with refractory anemia. Refractory anemia is a subtype of MDS.Although neither the method for selecting patients nor the clinical phenotype of the patients was specified in the paper, the authors' work is important and furthers our understanding of the relationship between SDS and MDS. Myelodysplastic syndrome is a preleukemic, stem cell disease with peripheral blood cytopenia, ineffective hematopoiesis, and varying degrees of bone marrow cellularity and dysplasia. Shwachman-Diamond syndrome meets many of these criteria2: it is a stem cell disorder with peripheral cytopenia, ineffective hematopoiesis,56 and varying degrees of bone marrow cellularity, and it carries a significantly increased risk of leukemia.2–4 In addition, scattered mild dysplastic changes in the erythroid, myeloid, and megakaryocytic precursors are commonly seen on careful examination of bone marrow biopsies of patients with SDS2 and are part of the syndrome. Further, the close relationship between SDS and MDS is reflected by similar defects in marrow stromal support of normal hematopoiesis,5 increased apoptosis mediated through the Fas pathway,6 a high frequency of clonal marrow cytogenetic abnormalities,2 and as the authors showed also by a prevalence of p53 protein overexpression that is similar to that in patients with refractory anemia.1 Therefore, SDS seems to be a myelodysplastic disorder from its inception. We therefore consider SDS to be refractory anemia2 or refractory cytopenia according to the CCC (category-cytology-cytogenetics) classification of childhood MDS.7 When we refer to malignant myeloid transformation in SDS, we mean stages beyond refractory anemia, namely refractory cytopenia with cytogenetic abnormality, refractory anemia with ring sideroblasts, refractory anemia with dysplasia, refractory cytopenia with excess blasts, or leukemia.We have recently analyzed bone marrow mononuclear cells from 11 patients with SDS (2 had a clonal marrow cytogenetic abnormality), and we did not find mutations in exons 2 through 11 of the p53 gene.2 Therefore, p53 protein overexpression in SDS can result from either up-regulation of the functional p53 gene (as the authors postulated) or posttranslational modification of the protein, rendering it more stable than the wild type protein, which normally cannot be detected.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,001 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,001 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».