Table 3.
Frequency of MC1R variants according to the clinical and histopathological characteristics of familial melanoma and sporadic multiple primary melanoma patients
| FM |
spMPM |
|||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MC1R Wild-type | Any MC1R variant | Pa | RHC | Pb | NRHC | P c | MC1R wild-type | Any MC1R variant | Pa | RHC | Pb | NRHC | Pc | |
| Characteristics of patients | ||||||||||||||
| Total (N) | 72 | 34 | ||||||||||||
| n | 25 | 47 | 30 | 17 | 7 | 27 | 15 | 12 | ||||||
| Age at diagnosis | ||||||||||||||
| ≤ 40 | 4 (16.0) | 18 (38.3) | 0.06 | 12 (40.0) | 0.07 | 6 (35.3) | 0.13 | 3 (42.9) | 13 (48.2) | 1.00 | 8 (53.3) | 1.00 | 5 (41.7) | 0.58 |
| > 40 | 21 (84.0) | 29 (61.7) | 18 (60.0) | 11 (64.7) | 4 (57.1) | 14 (51.8) | 7 (46.7) | 7 (58.3) | ||||||
| Median value (range) | 53 (20–81) | 45 (15–80) | 0.03 | 44 (15–77) | 0.01 | 48 (26–80) | 0.04 | 44 (19–78) | 41 (19–80) | 0.64 | 39 (19–80) | 0.57 | 42 (28–67) | 0.70 |
| Skin type | ||||||||||||||
| I/II | 11 (44.0) | 35 (74.5) | 0.08 | 25 (83.3) | 0.02 | 10 (58.8) | < 0.01 | 2 (28.6) | 18 (66.7) | 0.42 | 12 (80.0) | 0.06 | 6 (50.0) | 0.02 |
| III/IV | 12 (48.0) | 12 (25.5) | 5 (16.7) | 7 (41.2) | 5 (71.4) | 9 (33.3) | 3 (20.0) | 6 (50.0) | ||||||
| Hair color | ||||||||||||||
| Red-blond | 0 (0) | 13 (27.7) | < 0.01 | 12 (40.0) | < 0.01 | 1 (5.9) | < 0.01 | 1 (14.3) | 10 (37.0) | < 0.01 | 7 (46.7) | < 0.01 | 3 (25.0) | < 0.01 |
| Medium | 8 (32.0) | 23 (48.9) | 12 (40.0) | 11 (64.7) | – | 13 (48.2) | 6 (40.0) | 7 (58.3) | ||||||
| Dark | 13 (52.0) | 11 (23.4) | 6 (20.0) | 5 (29.4) | 6 (85.7) | 4 (14.8) | 2 (13.3) | 2 (16.7) | ||||||
| Eye color | ||||||||||||||
| Light | 11 (44.0) | 25 (53.2) | 0.46 | 15 (50.0) | 0.46 | 10 (58.8) | 0.72 | 2 (28.6) | 13 (48.2) | 0.06 | 8 (53.3) | 0.22 | 5 (41.7) | 0.12 |
| Medium | 7 (28.0) | 17 (36.2) | 12 (40.0) | 5 (29.4) | 1 (14.3) | 10 (37.0) | 4 (26.7) | 6 (50.0) | ||||||
| Dark | 5 (20) | 5 (10.6) | 3 (10.0) | 2 (11.8) | 4 (57.1) | 4 (14.8) | 3 (20.0) | 1 (8.3) | ||||||
| Nevus count | ||||||||||||||
| ≤ 50 | 17 (68.0) | 24 (51.1) | 0.12 | 16 (53.0) | 0.25 | 8 (47.1) | 0.25 | 4 (57.1) | 8 (29.6) | 0.17 | 5 (33.3) | 0.34 | 3 (25.0) | 0.31 |
| > 50 | 6 (24.0) | 21 (44.7) | 12 (40.0) | 9 (52.9) | 2 (28.6) | 17 (63.0) | 9 (60.0) | 8 (66.7) | ||||||
| Clinically atypical nevi | ||||||||||||||
| Yes | 4 (16.0) | 14 (29.8) | 0.25 | 8 (26.7) | 0.51 | 6 (35.3) | 0.40 | 1 (14.3) | 6 (22.2) | 1.00 | 6 (40.0) | 0.35 | 0 (0) | 0.11 |
| No | 19 (76.0) | 30 (63.8) | 20 (66.7) | 10 (58.8) | 5 (71.4) | 15 (55.6) | 8 (53.3) | 7 (58.3) | ||||||
| Number of family members | ||||||||||||||
| 2 | 20 (80.0) | 33 (70.2) | 0.41 | 21 (70.0) | 0.53 | 12 (70.6) | 0.41 | NA | NA | NA | NA | |||
| > 2 | 5 (20.0) | 14 (29.8) | 9 (30.0) | 5 (29.4) | NA | NA | NA | NA | ||||||
| Number of primary melanomas | ||||||||||||||
| Single | 21 (84.0) | 37 (78.7) | 0.75 | 22 (73.3) | 0.51 | 15 (88.2) | 0.30 | NA | NA | NA | NA | |||
| Multiple | 4 (16.0) | 10 (21.3) | 8 (26.7) | 2 (11.8) | NA | NA | NA | NA | ||||||
| History of NMSC | ||||||||||||||
| Yes | 4 (16.0) | 5 (10.6) | 0.47 | 2 (6.7) | 0.39 | 3 (17.6). | 0.25 | 0 (0) | 1 (3.7) | 0.62 | 1 (6.7) | 1.00 | 0 (0) | 0.30 |
| No | 19 (76.0) | 40 (85.1) | 27 (90.0) | 13 (76.5) | 7 (100) | 25 (92.6) | 13 (86.7) | 12 (100) | ||||||
| Characteristics of melanomas | ||||||||||||||
| Total (N) | 87 | 75 | ||||||||||||
| n | 29 | 58 | 38 | 20 | 16 | 59 | 35 | 24 | ||||||
| Breslow thickness | ||||||||||||||
| In situ | 12 (41.4) | 20 (34.5) | 0.63 | 10 (26.3) | 0.29 | 10 (50.0) | 0.18 | 8 (50.0) | 29 (49.1) | 1.00 | 12 (34.3) | 0.37 | 17 (70.8) | 0.14 |
| Invasive | 15 (51.7) | 35(60.3) | 25 (65.8) | 10 (50.0) | 8 (50.0) | 29 (49.1) | 22 (62.9) | 7 (29.2) | ||||||
| ≤ 1 mm | 24 (82.7) | 46 (79.3) | 1.00 | 29 (76.3) | 1.00 | 17 (85.0) | 0.82 | 13 (81.2) | 51 (86.4) | 0.65 | 29 (82.9) | 0.64 | 22 (91.7) | 0.42 |
| > 1mm | 3 (10.3) | 9 (15.5) | 6 (15.8) | 3 (15.0) | 3 (18.8) | 7 (11.9) | 5 (14.3) | 2 (8.3) | ||||||
| Median value (range) | 0.43 (0.22–4.55) | 0.68 (0.24–0.50) | 0.27 | 0.65 (0.24–3.15) | 0.45 | 0.85 (0.27–5.0) | 0.37 | 0.77 (0.27–2.20) | 0.60 (0.17–2.66) | 0.91 | 0.57 (0.17–2.66) | 0.71 | 0.92 (0.5–1.45) | 0.46 |
| Anatomical site | ||||||||||||||
| Head | 3 (10.3) | 4 (6.9) | 0.42 | 1 (2.6) | 0.35 | 3 (15.0) | 0.28 | 0(0) | 2 (3.4) | 0.03 | 1 (2.9) | 0.02 | 1 (4.2) | 0.09 |
| Trunk | 10 (34.5) | 23 (39.6) | 15 (39.5) | 8 (40.0) | 6 (37.5) | 41 (69.5) | 26 (74.3) | 15 (62.5) | ||||||
| Extremities | 16 (55.2) | 26 (44.8) | 20 (52.6) | 6 (30.0) | 10 (62.5) | 16 (27.1) | 8(22.9) | 8 (33.3) | ||||||
| Palm or soles | 0 (0) | 3 (5.2) | 1(2.6) | 2 (10.0) | 0 (0) | 0(0) | 0(0) | 0(0) | ||||||
| Axial | 13 (44.8) | 27 (46.5) | 0.77 | 16 (42.1) | 0.40 | 11 (55.0) | 0.68 | 6 (37.5) | 43 (72.9) | < 0.01 | 27 (77.1) | 0.02 | 16 (66.7) | < 0.01 |
| Extremities | 16 (55.2) | 29 (50.0) | 21 (55.3) | 8 (40.0) | 10 (62.5) | 16 (27.1) | 8 (22.9) | 8 (33.3) | ||||||
| Histopathological subtype | ||||||||||||||
| SMM | 25 (86.2) | 49 (84.5) | 0.74 | 35 (92.1) | 0.69 | 14 (70.0) | 0.61 | 16 (100) | 56 (94.9) | 1.00 | 32 (91.4) | 0.54 | 24 (100) | 0.09 |
| Other | 3 (10.3) | 9 (15.5) | 3 (7.9) | 6 (30.0) | 0 (0) | 3 (5.1) | 3 (8.6) | 0 (0) | ||||||
Numbers do not always add up to the total because of missing data.
FM, familial melanoma; NA, not applicable; NMSC, nonmelanoma skin cancer; NRHC, nonred hair color; RHC, red hair color; spMPM, sporadic multiple melanoma; SSM, superficial spreading melanoma.
a
P value calculated comparing MC1R-mutated versus MC1R wild-type patents.
b
P value calculated comparing RHC carriers versus MC1R wild-type patients.
c
Test for linear trend across categories (wild type, NRHC, RHC).