Page 130 - Haematologica - Vol. 105 n. 6 - June 2020

F. Drieux et al.
Table 3. Reproducibility of the reverse transcriptase-multiplex ligation-dependent probe amplification (RT-MLPA) assay among three laboratories (Center 1, Center 2, and Center 3).
Pathology
Concordant samples
Center 1
AITL
AITL AITL AITL AITL AITL* AITL* TH2
TH2 Cytotoxic/Th1 Cytotoxic/Th1 AITL* Cytotoxic/Th1* ALCL ALK- ALCL ALK- ALCL ALK- CD30TH2* ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ TH2
TH2 TH2 TH2 unclassified Failure NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL Cytotoxic/Th1 NKTCL
RT-MLPA Classification
Center 2
AITL
AITL AITL AITL AITL AITL* AITL* TH2 TH2 Cytotoxic/Th1 Cytotoxic/Th1 TH2 Cytotoxic/Th1 ALCL ALK- ALCL ALK- ALCL ALK- CD30TH2* ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ TH2
TH2 TH2 TH2 unclassified Failure NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL NKTCL Cytotoxic/Th1 NKTCL
Center 3
AITL
AITL AITL AITL AITL AITL* AITL* TH2 TH2 Cytotoxic/Th1 AITL
AITL
Cytotoxic/Th1
ALCL ALK-
ALCL ALK-
ALCL ALK-
CD30TH2*
ALCL ALK+
ALCL ALK+
ALCL ALK+
ALCL ALK+
ALCL ALK+
ALCL ALK+
TH2
TH2
TH2
TH2
unclassified
TH2
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
Cytotoxic/Th1
NKTCL
RHOAG17V/ IDH2 R172 status by RTMLPA (m=mutated, wt= wild-type)
m/wt
m/wt
wt/wt
m/wt
wt/wt
m/wt
wt/wt
wt/wt
wt/wt
m/wt
m/wt
m/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
wt/wt
Mutations detected by targeted NGS
ND
RHOA, IDH2 (R712S), TET2, DNMT3a ND
RHOA, IDH2 (R712S), TET2, DNMT3a ND
RHOA, IDH2 (R712T), TET2 ND
IDH2(R172S), TET2, CD28 TET2, FYN
RHOA, TET2 ND
ND
ND
ND
ND
ND
TET2, TP53 ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
ND
Case1
Case2 Case3 Case4 Case5 Case6 Case7 Case8 Case9 Case10 Case11 Case12 Case13 Case14 Case15 Case16 Case17 Case18 Case19 Case20 Case21 Case22 Case23 Case24 Case25 Case26 Case27 Case28 Case29 Case30 Case31 Case32 Case33 Case34 Case35 Case36 Case37 Case38 Case39
Case40
AITL
AITL AITL AITL AITL AITL AITL AITL† AITL† AITL** AITL** AITL** AITL ALCL ALK- ALCL ALK- ALCL ALK- ALCL ALK- ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ATLL
ATLL
ATLL
ATLL
ATLL
ATLL**
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
NKTCL
PTCL-NOS
PTCL-NOS (EBV+)
NGS: next-generation sequencing; m: mutated; wt: wild-type; ND: not determined. Evaluated on 40 formalin-fixed paraffin-embedded (FFPE) samples: six ALK-positive anaplastic largecelllymphomas(ALCL-ALK+),fourALCLALK-, 13angioimmunoblasticT-celllymphomas(AITL),ninenaturalkiller(NK)/T-celllymphomas(NKTCL),sixadultT-celllym- phomas (ATLL), and two peripheral T-cell lymphomas not otherwise specified (PTCL-NOS). †AITL tumor cell rich. *Distant of the samples of the predicted support vector machine (SVM) class.**Among the four discrepant samples,the SVM resulted in concordance between two centers for two cases,one case showed discordant results between the three centers, and one ATLL sample had no interpretable profile in two centers whereas the other determined a Th2 profile concordant with the diagnosis.
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