Page 202 - 2021_02-Haematologica-web

S. Bobillo et al.
Table 1. Patients’ characteristics and tumor mutations at the time of enrolment and outcome.
ID Age Histol Dx
Disease Systemic CNS CNS Tumor
Tumor VAF VAF mutations tumor CSF
MYD88L265P - 48%
CD79B Y197D MYD88 L265P FOXO1 D69A TMSB4A Q24P B2M M1T
BCOR N145S CREBBP R1664C MYD88 L265P MYD88 L265P
ATMH2872L MEF2B K23R
BRAFN581S MYCY27C
ARID1A E1104 MEF2B D83G MLL2 C533fs CCND3 P284fs ID3Y48* DDX3X Q360fs MLL2splicing MLL2 P3139A TP53 R273C CREBBP Y145C MCL1 L186F PTNPN6 T80fs MYD88L265P PIM1 L2F MEF2BE77K HSD3B2 L108W MYD88 L265P BCOR S1517fs EZH2 P557L
MYD88 V217F ASXL2 K927R CREBBP S1436I
ID3L54V KRAS G12V TCF3D561E ABL1 G321R ARID1A del
VAF Outcome plasma
CNS lymphoma
NHL1 59
NHL2 60
NHL3 53
NHL4 75
NHL5 58
NHL6 73
DLBCL DLBCL
DLBCL
WM DLBCL
MCL
PCNSL SCNSL
SCNSL
SCNSL SCNSL
SCNSL
status
Newdx Relapse
Relapse
Relapse Relapse
Relapse
Relapse
inv inv (FC/C) seq
No P -/- -
N CR
No P, LM
No P,LM
No LM No P,LM
No LM
LN LM
+/-
+/+
+/+ +/+
+/+
WES
Panel
- -
Panel
17% 9% 22% 25% 13% - 54% 20% 41% N 68% 52% 21% N
- - - - N N N N
5% CR,
CR
PD, died
CR
CNS relapse
PD,died
PD,died CR
CR CR CR CR CR
CR CR
CNS relapse
CNS relapse
CNS and systemic lymphoma
NHL7 72 MCL SCNSL
+/+
-/- WES
-/- WES -/- Panel -/- Panel -/- Panel -/- WES
-/- Panel -/- Panel
-/- Panel -/- Panel -/- WES
31% 34% 2% 90% 95% 4%
44% N 7%
28% N 16% 32% N 20% 33% N 18% 50% N 31% 29% N 16% 38% N 12% 98% N 15% 60% N 19% 34% N 12% 32% N 12% 25% N 27% 31% N 0.9% 26% N N 29% N 5% 27% N 3% 27% N 5% 22% N N 31% N N 63% N N 34% N N
28% N N 42% N N 50% N 16%
- 33% 86% 29%
Systemic lymphoma
-
- - - - -
- -
- - -
NHL19†
65 BL - Newdx LN,bone No -/- Panel
LN, sinus, bones LN
intestine
Panel
NHL8 50
NHL9 38 NHL10 73 NHL11 72 NHL12 86 NHL13 77
NHL14 62 NHL15 75
NHL16† 57 NHL17 58 NHL18† 60
HGBCL
HGBCL DLBCL DLBCL DLBCL DLBCL
DLBCL DLBCL
DLBCL HGBCL BL
Newdx LN, bone,
intestine
Newdx LN, intestine
Newdx LN, kidney
New dx LN, lung, ileum
New dx LN, breast
Newdx LN, testes
No
No No No No No
No No
No No No
New dx New dx
Teste
LN, testes, liver, adrenal
New dx
New dx
Newdx LN,
CR,
CR,
37% N
34% N 1% 42% N N 43% N 0.5%
9% N 1% CR
N CR
BL: Burkitt lymphoma; C: cytology; CNS: central nervous system; CR: complete response; CSF: cerebrospinal fluid; DLBCL: diffuse large B-cell lymphoma; Dx: diagnosis; FC: flow cytometry; HGBCL: high-grade B-cell lymphoma; Histol: histology; ID: patient identification number; inv: involvement; LM: leptomeningeal; LN: lymph nodes; MCL: mantle cell lymphoma; N: not detectable; Neg: negative; NHL: non-Hodgkin lymphoma; P: parenchyma; PCNSL: primary central nervous system lymphoma; PD: progressive disease; Pos: pos- itive; SCNSL: secondary central nervous system lymphoma; seq: sequencing; VAF: variant allele frequency;WES: whole exome sequencing;WM:Waldeström macroglobulinemia. †Plasma samples were collected after administration of systemic chemotherapy.
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