急性未分化白血病定义、分类与流行病学特征.pdfVIP

Acuteundifferentiatedleukaemia

Definition

Acuteundifferentiatedleukaemia(AUL)isanacuteleukaemiathatexpresseshaematopoietic

stemcellmarkersbutnomarkersthatpermitlineageassignment.

ICD-Ocoding

9801/3Acuteundifferentiatedleukaemia

ICD-11coding

2B33.0Acuteleukaemia,notelsewhereclassified

Relatedterminology

Notrecommended:stemcellacuteleukaemia.

Subtype(s)

None

Localization

Bonemarrowandperipheralbloodarealwaysinvolved.

Clinicalfeatures

Patientspresentwithclinicalfeaturessimilartothoseofotheracuteleukaemias,typically

secondarytocytopenias{;;}.

Epidemiology

TheincidenceofAULhasdecreasedovertime{},probablyowingtoimproved

classificationbasedonmolecularfindingsandtechniquesfordetectinglineagemarkers.AULis

estimatedtoaccountfor1–2%ofacuteleukaemias{;};itoccursmore

commonlyinadults,withanM:Fratioofabout1.5:1{;;}.

Etiology

Unknown

Pathogenesis

Approximately40%ofcaseshaveanabnormalkaryotype(oftenanon-complexkaryotype).

RecurrentmutationsincludethoseinPHF6,RUNX1,SRSF2,andASXL1(each~40%),andin

BCOR(~25%){;;;}.Genefusionssuch

asSET::NUP214arealsodetectedinasubsetofcases{}.Themolecularprofilein

AULwithRUNX1andASXL1mutationssuggeststhatAULmaybegeneticallyclosertoacute

myeloidleukaemia(AML)thantolymphoblasticleukaemia,whereasPHF6mutationsupports

thenotionthatAULmayrepresentabiologicalcontinuumofT/myeloidmixed-phenotypeacute

leukaemiaandearlyT-precursorlymphoblasticleukaemia{;}.

Macroscopicappearance