[email protected]

21eha disclose to interest of conflicts no are There

162-P

Flaer

(days) Time Flaer

15 10 5 0 PIGH. of expression

0 BV 0nM azacytidine 0nM BV

% GPI positive cells lack also subcultures negative GPI

HP 0nM azacytidine 0nM HP ALL - B in variants escape negative CD52/GPI of

expression analysis showed that the the that showed analysis expression 5

MOCK BV 0.5nM azacytidine 0.5nM BV

might be a promising therapeutic strategy to prevent outgrowth outgrowth prevent to strategy therapeutic promising a be might cell cultures by FACS. mRNA mRNA FACS. by cultures cell

methylated

M

10

Highly or fully fully or Highly HP 0.5nM azacytidine 0.5nM HP ALL ALL - Leiden the from generated were

epigenetic modulatory drugs with alemtuzumab alemtuzumab with drugs modulatory epigenetic Combining 

methylated Partially L

Inge JEDEMA Inge Acute- leukemia lymphoblastic Biology 2 subcultures negative and positive GPI

15

Unmethylated U

NGFR (marker ) NGFR region promoter the

cells - B 20 ALL ALL

U U U U U U U U U U U U U U U U

by methylation of of methylation by regulation down epigenetic to due possibly

Healthy CD52

peptide T2A autocleaving the via - BV Leiden -

HP Leiden

PBGD

25

L L L L M M L L L M M M M L M L coupled to PIGH or PIGA PIGA or PIGH to coupled markergene a for - GPI BV but but mutations, DNA to due not was mRNA PIGH of Loss

PIGA +

assay Demethylation

L L L L L L L L L L L L L L L L

GPI+ BV

Construct used for transductions encodes encodes transductions for used Construct

L L L L L L L L L M L M M L L L PIGH

- GPI HP

transduction retroviral by expression

empty (marker)

L L L L L L L L L L L L L L L L

GPI+ HP

PIGH, PIGA, or or PIGA, PIGH,

T2A NGFR

was stable, but could be corrected by enforced PIGH PIGH enforced by corrected be could but stable, was

TSS

16 15 14 13 12 11 10 9 8 7 6 5 4 3 2 1

CpG

ALL cell subcultures subcultures cell ALL - B of phenotype negative CD52/GPI The

sequencing bisulfite by assay methylation Promoter

vector PIGH +

VBK synthesis anchor GPI in component key a , expression mRNA

MHX

or empty empty or PIGA not but construct,

reexpression anchor GPI in resulted azacytidine using Demethylation

Patient Patient

Patient Patient

PIGH PIGH of loss to due expression CD52/GPI lost cells These

PIGH PIGH the with transduction •

subcultures negative GPI in methylation promoter of level Higher

GPI GPI

subcultures upon retroviral retroviral upon subcultures neg neg •

aberrations genetic by caused not was mRNA PIGH of Loss

ALL - BV ALL - HP

ALL ALL - B negative GPI the in

diagnosis at present were populations sample patient original the to comparable highly phenotypically showed:

subcultures cell negative GPI

Restored GPI anchor expression expression anchor GPI Restored

were samples patient ALL - B two from generated cultures Cell patients CD52/GPI negative cell cell negative CD52/GPI patients ALL - B of majority the In Detailed analysis of the GPI negative and GPI positive ALL subcultures subcultures ALL positive GPI and negative GPI the of analysis Detailed  Flow cytometric analysis of the transduced transduced the of analysis cytometric Flow

PIGH of downregulation Epigenetic expression GPI restores wtPIGH cultures ALL - B GPI and GPI Conclusions

pos neg

control loading a as GAPDH with samples, (n=3) GPI 26 the for expression mRNA

ALL ALL - B in analysis expression mRNA PIGH for screened sample ALL - B a of Example

regimen culturing day 14

sample ALL - B a in compartment cell B CD19+

ALL - B adult in expression blood Peripheral PB, marrow; Bone BM, **

SL15 PIGO

Azacitidine in a a in Azacitidine - 5 using assay demethylation a for used was subculture

anchor negative cells within the the within cells negative anchor - CD52/GPI

0.00 674.114 BM PMX8367 18

mechanism underlying the loss of CD52/GPI anchor anchor CD52/GPI of loss the underlying mechanism

6995 AOR

promoter CpG methylation by bisulfite sequencing. GPI negative negative GPI sequencing. bisulfite by methylation CpG promoter

Example of a flow cytometric analysis of of analysis cytometric flow a of Example PGAP3 PIGN

0.00 514,778 PB MRQ3306 17

The aim of the current study was to further unravel the the unravel further to was study current the of aim The

GPI negative and positive subcultures were used to compare the the compare to used were subcultures positive and negative GPI

0.00 21,305 PB MGR9751 16 8262 JHO

PGAP2

DOI:10.3252/pso.eu.21EHA.2016 PIGM

) anchor GPI ( Flaer 0.00 45,701 BM JWK9219 15

0747 PGZ

PGAP1 PIGL

vector empty an or PIGA 0.00 356,142 BM CPH6760 14

expression

, , PIGH encoding constructs with studies transduction retroviral perform 0.00 103,698 PB ASC5968 13 6179 MEP PIGZ PIGK

CD52 membrane expression due to loss of GPI anchor anchor GPI of loss to due expression membrane CD52 0.00 226,151 PB LMJ5903 12 using FACS into pure GPI negative and GPI positive subcultures to to subcultures positive GPI and negative GPI pure into FACS using

PIGY PIGH 7504 HRG

• 0.00 40,682 BM LOW9484 11 variants expressed normal CD52 mRNA levels, but lacked lacked but levels, mRNA CD52 normal expressed variants ALL samples were cultured, and subsequently divided divided subsequently and cultured, were samples ALL - B different Two

0.03 795,546 PB HBP6230 10 PIGX PIGF

9115 KYE

ALL. These These ALL. - B human with engrafted model mouse a in shown

0.03 628,534 BM AOR6995 9

electrophoresis

negative escape variants after alemtuzumab treatment was was treatment alemtuzumab after variants escape negative PIGW

PIGC CD52

0.04 331,127 PB MHJ8932 8

conventional PCR using specific primers and visualized by gel gel by visualized and primers specific using PCR conventional

et al, 2010), outgrowth of CD52 CD52 of outgrowth 2010), al, et Nijmeijer ( study previous a In

PIGV PIGB 0.11 31,171 PB HBZ8516 7

that comprise the GPI anchor biosynthesis pathway was analyzed by by analyzed was pathway biosynthesis anchor GPI the comprise that

0.18 938,627 BM EBG6102 6

6102 EBG PIGU PIGA

mRNA was isolated, cDNA synthesized, and expression of the 26 genes genes 26 the of expression and synthesized, cDNA isolated, was mRNA

0.28 25,465 BM JHO8262 5

variants escape ALL - B negative CD52

fluorescence activated cell sorting (FACS) and from these populations populations these from and (FACS) sorting cell activated fluorescence

PIGT GPAA1 0.65 769,559 BM PGZ0747 4

clinical efficacy, which could be caused by the outgrowth of of outgrowth the by caused be could which efficacy, clinical

ALL populations were purified by by purified were populations ALL - B negative GPI and positive GPI

0.91 36,783 PB KYE9115 3

PIGS DPM3

-- + -- + GPI:

inositol (GPI) anchored CD52 protein has shown modest modest shown has protein CD52 anchored (GPI) inositol

2.14 274,959 PB MEP6179 2 KYE9115

at21 EHA Poster PIGQ DPM2 - glycophosphatidyl the targets which alemtuzumab contrast, In  4.98 385,018 PB HRG7504 1

%) 0.01 limit (detection counterstaining

10th June 2016 June 10th

type nr (%) screened

FLAER and CD52 and CD19 CD19 and CD52 and FLAER aerolysin specific - GPI labeled

**

PIGP DPM1 ID Patient

Sample Sample Sample Sample GPI negative negative GPI cells cells - B #

presented (HCL) patients and healthy donors by flow cytometry with a fluorescently fluorescently a with cytometry flow by donors healthy and patients (HCL)

) ALL - (B leukemia lymphoblastic acute cell

on B ) 5 (n= donors healthy in or ), 6 (n= HCL ), 5 (n= leukemia (CLL), mantle cell lymphoma (MCL), and hairy cell leukemia leukemia cell hairy and (MCL), lymphoma cell mantle (CLL), leukemia

: in outcomes treatment improved has antigens CD20 or CD19

bone marrow samples from treatment naïve B naïve treatment from samples marrow bone ALL, chronic lymphocytic lymphocytic chronic ALL, - MCL ), 5 (n= CLL as such malignancies cell B other in not but samples,

involved in GPI anchor biosynthesis, in purified GPI negative B negative GPI purified in biosynthesis, anchor GPI in involved cells ALL -

The development of novel antibody based therapies targeting targeting therapies based antibody novel of development The

• Frequency of CD52/GPI anchor negative cells was analyzed in blood and and blood in analyzed was cells negative anchor CD52/GPI of Frequency

ALL - B 18 of out 10 in present were populations cell negative /GPI 52 CD mRNA expression, but of none of the other genes genes other the of none of but expression, mRNA PIGH of loss Recurrent

Background ALL cells at diagnosis at cells ALL - B GPI methods and Material

cells GPI in expression PIGH No

neg neg

Department of Dermatology, Leiden University Medical Center, The Netherlands. The Center, Medical University Leiden Dermatology, of Department Department of Hematology, Hematology, of

2 1

Maarten H Maarten , Zoutman . H Wim , Egmond van Esther . H.M , Rijs Kevin , Loeff C Floris . Vermeer . Jedema Inge , J.M Constantijn , J.H.Frederik , . Halkes . Falkenburg

2 1 1 1 1 1 1 2

TO B CELL ACUTE LYMPHOBLASTIC LEUKEMIA LYMPHOBLASTIC ACUTE CELL B TO

LACKING CD52 MEMBRANE EXPRESSION, CONFERRING ALEMTUZUMAB RESISTANCE RESISTANCE ALEMTUZUMAB CONFERRING EXPRESSION, MEMBRANE CD52 LACKING

LOSS OF PIGH EXPRESSION FREQUENTLY RESULTS IN A GPI A IN RESULTS FREQUENTLY EXPRESSION PIGH OF LOSS NEGATIVE SUBCLONE SUBCLONE NEGATIVE -