与唐氏综合征相关骨髓增殖疾病研究.pdfVIP

MyeloidproliferationsassociatedwithDownsyndrome

Definition

MyeloidproliferationsassociatedwithDownsyndromeencompasstwoclonalconditionsthat

ariseinchildrenwithconstitutionaltrisomy21:transientabnormalmyelopoiesis(TAM)and

myeloidleukaemiaassociatedwithDownsyndrome(ML-DS).

ICD-Ocoding

9898/3MyeloidleukaemiaassociatedwithDownsyndrome

9898/1Transientabnormalmyelopoiesis

ICD-11coding

2A60.4ZMyeloidproliferationassociatedwithDownsyndrome,unspecified

2A60.4YOtherspecifiedmyeloidproliferationassociatedwithDownsyndrome

Relatedterminology

None

Subtype(s)

MyeloidleukaemiaassociatedwithDownsyndrome;transientabnormalmyelopoiesis

Localization

TAMmanifestsmainlyintheperipheralblood.Severecasesaffecttheliver,spleen,pleura,and

pericardium{;}.Bonemarrowinvolvementisusuallymild.

ML-DSmanifestsmainlyinthebonemarrowbutcanalsoinvolvetheliverandspleen.CNS

involvementisrare{;}.

Clinicalfeatures

Clinically,TAMrangesfromalife-threateningdiseasetoanasymptomaticalfinding.

Mostpatientspresentwithin7daysofbirth.Severediseasemanifestswithhepatomegaly(40%),

splenomegaly(30%),vesiculopapularskinrash(11%),andpleuraland/orpericardialeffusion

(9%){}.Chotaticjaundiceiscommon(70%)butmaynotbespecifictoTAM.

Leukocytosiswithincreasedblastsiscommonandmaybeextreme(100000×109/L).

Anaemiaisuncommon,andteletcountsmaybenormal,reduced,orincreased

{;;}.Mortalityinseverecasesapproaches20%,usuallyfrom

progressiveliverfailure.Asymptomaticdiseaseisclinicallysilentbutmaymanifestwith

peripheralbloodblast