Table 1

Patients with melanoma with germline CDKN2A mutations that have received immunotherapy for metastatic melanoma

ID	Sex	Age	Germline CDKN2A mutation	p16 mutations	P14ARF mutations	Tumour stage*	BRAF mut ation	Type of therapy*	Line of treatment	Year when treatment started	Previous therapies†	Resp onse	Grade 3–4 side effects	Overall survival (months)‡	Progression-free survival (months)‡
1	M	43	c.301G>T	Missense	Missense	M1a	V600E	CTLA-4	1	2014	–	CR	No	33+	33+
2	F	42	c.301G>T	Missense	Missense	M1a	–	CTLA-4	1	2006	–	CR	No	138+	41
3	M	69	c.337_338insGTC	Insertion	Insertion	M1d	–	CTLA-4	1	2012	–	PR	No	24	12
4	M	54	c.301G>T	Missense	Missense	M1c	–	CTLA-4	1	2015	–	SD	No	12	6
5	F	39	c.193G>C	–	Missense	M1b	V600E	CTLA-4	1	2013	–	PD	No	46	0
6	M	29	c.225_243del119	Frameshift	Chimaera	M1d	V600E	CTLA-4	2	2015	BRAF	PD	Yes	24+	0
7	M	57	c.301G>T	Missense	Missense	M1c	V600E	CTLA-4	3	2011	Chemo, chemo	PD	No	2	0
8	F	69	c.301G>T	Missense	Missense	M1c	V600E	CTLA-4	2	2015	BRAF	PD	No	3	0
9	M	75	c.337_338insGTC	Insertion	Insertion	M1c	V600K	PD-1	2	2015	BRAF	CR	Yes	30+	30+
10	M	57	C.79G>T	Nonsense	–	M1d	–	PD-1	1	2016	–	PR	No	11+	11+
11	F	62	c.241C>T	Missense	Missense	M1c	V600E	PD-1	2	2017	BRAF/MEK	PR	No	4+	4+
12	F	48	c.225_243del119	Frameshift	Chimaera	M1c	V600E	PD-1	2	2017	BRAF/MEK	PR	Yes	4+	4+
4	M	54	c.301G>T	Missense	Missense	M1c	–	PD-1	2	2015	CTLA-4	SD	No	12	6
13	M	46	c.225_243del119	Frameshift	Chimaera	M1a	V600E	PD-1	2	2017	BRAF/MEK	PD	No	3+	0
14	F	59	c.202_203GC>TT	Missense	Missense	M1c	V600E	PD-1	2	2017	BRAF/MEK	PD	No	3	0
15	F	57	c.301G>T	Missense	Missense	M1c	V600E	PD-1	2	2016	BRAF/MEK	PD	No	3	0
16	M	55	c.337_338insGTC	Insertion	Insertion	M1c	V600E	CTLA-4/PD-1	1	2016	–	CR	Yes	24+	24+
5	F	39	c.193G>C	–	Missense	M1b	V600E	CTLA-4/PD-1	3	2017	CTLA-4, BRAF/MEK	CR	Yes	3+	3+
17	F	43	c.-34G>T	Initiation	–	M1d	V600E	CTLA-4/PD-1	2	2017	BRAF/MEK	PD	No	1	0
18	M	33	c.225_243del119	Frameshift	Chimaera	M1d	–	ACT	1	2005	–	CR	No	132+	132+
19	F	64	c.370C>T	Missense	–	M1c	V600E	PD-1/BRAF/MEK	1	2017	–	PR	No	4+	4+

*Tumour stage according to the eighth edition of the AJCC Cancer Staging System (M1d: patients with brain metastases).
†Anti-CTLA-4 therapies: ipilimumab or tremelimumab; Anti-PD-1 therapies: pembrolizumab, nivolumab or spartalizumab; Anti-BRAF therapies: vemurafenib, dabrafenib or encorafenib; Anti-MEK therapies: trametinib or binimetinib; ACT, Adoptive T cell transfer with interfron-alpha.
‡Overall survival and progression-free survival in months from start of treatment. The +sign indicates that the patient is still alive (for overall survival) or has ongoing response (for progression-free survival).
CR, complete response; PR, progressive disease; SD, stable disease.