Large-scalegenemuta/onanalysisinCLLLesleyAnnSu+on

UppsalaUniversity/KarolinskaIns/tute,Sweden

Recurrentgenemuta,onsinCLL:AnERICprojectinHARMONY

Ra/onale

•  Manyrecurrentgenemuta/onsexistinCLL

•  Variableandlowfrequency(<10%each)

•  Correlatewithdis/nctdiseaseandclinicaloutcomes

Prognos/corpredic/vecapacityofgenemuta/ons?

Couldpar/culargenemuta/on(s)aidinclinicaldecision-making,includingtherapyselec/onandresponsepredic/on?

2)Clinicaldata: Gender Dateofbirth

Dateofdiagnosis Dateoftreatmentini,a,on Treatmentreceived(first-line) Dateoflastfollow-up Binet/Raistageatdiagnosis IGHVgenemuta,onalstatus FISHaberra,ons(11q-,13q-,+12,17p-)

1)Genemuta/ons:

>20centers

≥200cases/center

100%

≥90%

>4000cases

Recurrentgenemuta,onsinCLL:AnERICprojectinHARMONY

Currentstatus

4000CLLcases

≈700cases(deadline23rdDecember2017)

12countries19ins6tu6ons

² Evaluatethemuta6onalstatusseveralrecurrentlymutatedgenesinalargeandwell-annotated(bothmolecularparametersandclinicalcharacteris,cs)seriesofCLLcases.

² Assesstheprognos6cimpactandclinicalrelevanceofrecurrentgenemuta6ons.

²  Iden,fydis6nctpa+ernsofassocia6onsbetweenrecurrentmuta6onswithotherclinicobiologicalfeaturesinCLL

² Performrobustvalida6onofrecentlyproposedprognos6ca6onmodelsthatincorporatebothcytogene,candmolecularlesionsprognos,cindices.

Recurrentgenemuta,onsinCLL:AnERICprojectinHARMONY

Specificprojectgoals

January2017:Surveysreturned

June-Dec2017:DataAcquisi/on

January–March2018:Dataanalysis

March2018:Abstract

submissiontoEHA

June2018:Manuscriptsubmission