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Table 2 Demographics, clinical, and pathologic characteristics of the UNC-CH/Vanderbilt/California Pacific Medical Research Institute

From: The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma

  APC/CTNNB1 mutant APC/CTNNB1 wild type
Characteristics Total (n = 55, %) Total (n = 169, %)
Sex
 Male (%) 35 (64) 99 (59)
 Female (%) 20 (36) 70 (31)
Melanoma Type
 Cutaneous (%) 42 (76) 123 (73)
 Acral (%) 5 (9) 15 (9)
 Mucosal (%) 1 (2) 14 (8)
 Uveal (%) 1 (2) 0 (0)
 Unknown Primary (%) 6 (11) 12 (7)
 No information available (%) 0 5 (3)
Age at MM diagnosis median (range in years) 61 (27–80) 61 (21–99)
Next Generation DNA sequencing Assay
 Illumina 26-gene panel 23 (42) 0
 FoundationOne CDx 32 (58) 169 (100)
Development of Brain Metastases
Yes (%) 24 (44) 66 (39)
  Time to development from MM diagnosis (median, range in months) 1.8 (0,96) 8.6 (0,106.4)
No (%) 31 (56) 103 (61)
Systemic Treatments-Immunotherapies
Yes (%) 48 (87) 151 (89)
  Response (%) 27 (56) 63 (42)
  Progression (%) 20 (42) 86 (57)
  No information (%) 1 (2) 2 (1)
No (%) 7 (13%) 18 (11)
Immunotherapy Types
 Ipilimumab alone (%) 1 (2) 1 (1)
 PD1 inhibitor alone (%) 23 (48) 90 (6)
 Ipilimumab plus PD1 inhibitors (%) 24 (50) 59 (39)
 High dose bolus IL-2 (%) 1 (2) 10 (7)
 Other (IFNα2b) (%) 3 (6) 1 (1)
Systemic Treatments-Non-immunotherapies
 BRAF inhibitors and/or MEK inhibitors (%) 16 (29) 42 (25)
 Other targeted therapies (%) 5 (9) 14 (8)
 Chemotherapies (%) 6 (11) 25 (15)
Genetic aberrations
Number of mutations/Mb* (median, range)
APC/CTNNB1 genetic aberrations
20 (2,372) 13 (0,160)
  CTNNB1 alone (%) 29 (53) N/A
  APC alone (%) 25 (45) N/A
 Both CTNNB1 and APC 1 (2) N/A
Other mutations
BRAFV600 (%) 19 (35) 47 (28)
  V600E 16 (29) 40 (24)
  V600K 3 (5) 6 (4)
  V600D 0 1 (1)
BRAFK601 (%) 1 (2) 2 (1)
NRASQ61 (%)1 17 (31) 36 (21)