Chronisch myeloproliferative Erkrankungen bei Kindern und Jugendlichen

Zusammenfassung

Als chronisch myeloproliferative Erkrankungen (CMPE) werden die essenzielle Thrombozythämie (ET), die Polycythaemia vera (PV), die idiopathische Myelofibrose (IM) und die chronisch myeloische Leukämie (CML) zusammengefasst. Gemeinsame Ursache ist eine primäre somatische Mutation, welche eine hämatopoetische Stammzelle mit einem klonalen Proliferationsvorteil ausstattet. Die einzelnen Entitäten sind durch die Proliferation von einer oder mehreren myeloischen Zellreihen (Granulopoese, Erythropoese oder Megakarypoese) mit relativ normaler, effektiver Ausreifung charakterisiert. Der Nachweis des Philadelphia-Chromosoms trennt die CML scharf von den anderen CMPE ab. Die extreme Seltenheit einiger Entitäten und zum Teil Schwierigkeiten bei der Klassifikation bedingen für pädiatrische Patienten schwankende Angaben zur Inzidenz von 0,05-0,40 pro 100 000. Eine moderne WHO-Klassifikation der CMPE wurde in den letzten Jahren für die internistische Hämatologie etabliert, welcher auch die pädiatrische Einteilung folgt.

Summary

Chronic myeloproliferative disorders (CMPDs) include essential thrombocythaemia (ET), polycythaemia vera (PV), myelofibrosis (agnogenic myeloid metaplasia, AMM) and chronic myeloid leukemia (CML). These disordes are caused by a somatic mutation, which provides a hematopoietic stem cell with a clonal proliferation advantage. Individual entities are characterized by proliferation of one or several myeloid cell lineages (granulopoiesis, erythropoiesis or megakaryopoiesis) with normal, effective differentiation. CML is sharply separated from the three other CMPDs by demonstration of the Philadelphia-Chromosome. Varying statements on the incidence of CMPDs in childhood (0.05-0.40/ 100 000) may be caused by the extreme rarity and partly by classsification difficulties in pediatric patients. A modern WHO classification scheme for CMPDs was established recently for adult patients and should be applied also in pediatrics.

Schlüsselwörter

Chronisch myeloproliferative Erkrankungen - essenzielle Thrombozythämie - Polycythaemia vera - idiopathische Myelofibrose - chronisch myeloische Leukämie

Keywords

Chronic myeloproliferative disorders - essential thrombocythaemia - polycythaemia vera - myelofibrosis - chronic myelogenous leukemia

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