Tchernia G, Bader-Meunier B, Lavergne J M, Miélot F, Dommergues J P
Laboratoire d'Hématologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France.
Hematol Cell Ther. 1996 Aug;38(4):325-30. doi: 10.1007/s00282-996-0325-0.
Myelodysplasia in childhood can be associated with constitutional abnormalities. Two main situations can be observed: constitutional diseases such as Down's Syndrome may be the first step of a malignant stem cell transformation leading to monoclonal hematopoiesis. However, in other situations such as mitochondrial cytopathies or other polymalformative syndromes, myelodysplasia may simply be the hematological expression of a multi-tissue constitutional disease. In such cases, the bone marrow karyotype is usually found to be normal and, in affected females, clonality studies show a polyclonal pattern. Clonality assessment should be, when possible, a mandatory step before any major therapeutic decision during the course of childhood myelodysplasia.
儿童骨髓发育异常可能与体质异常有关。可观察到两种主要情况：诸如唐氏综合征等体质性疾病可能是恶性干细胞转化导致单克隆造血的第一步。然而，在其他情况下，如线粒体细胞病或其他多发畸形综合征，骨髓发育异常可能仅仅是多组织体质性疾病的血液学表现。在这种情况下，通常发现骨髓核型正常，并且在受影响的女性中，克隆性研究显示为多克隆模式。在儿童骨髓发育异常的病程中，在做出任何重大治疗决定之前，克隆性评估应尽可能成为一个必要步骤。
