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. Author manuscript; available in PMC: 2016 Oct 1.
Published in final edited form as: Am J Surg Pathol. 2015 Oct;39(10):1357–1362. doi: 10.1097/PAS.0000000000000451

Table 1.

Desmoplastic melanoma – clinical findings, pathologic features, and NF1 mutation status.

Case # Age, Sex Site MIS Thickness Clark Level DM Type NF1 Mutation

Mutation Type cDNA Protein
1 82M Scalp Yes 1.9 mm V Pure Nonsense c.3562C>T p.Q1188*

2 24M Arm Yes 9.5 mm V Pure Nonsense c.2875C>T p.Q959*

3 85F Face Yes 7.2 mm V Pure Nonsense c.1555C>T p.Q519*
Splicesite c.7456-1G>A p.? (splice)

4 81F Shoulder Yes 1.5 mm IV Pure Missense c.2530C>T p.L844F
Nonsense c.2734C>T p.Q912*

5 77F Face Yes 2.5 mm IV Pure Nonsense c.1105C>T p.Q369*
Missense c.2146G>C p.E716Q

6 66M Scalp Yes 7 mm V Pure Missense c.6472C>T p.R2179C
Nonsense c.1713G>A p.W571*
Missense c.3496G>A p.G1166S

7 76M Scalp Yes 1.8 mm V Mixed Missense c.451A>C p.N151H
Missense c.6782A>T p.H2261L

8 85M Neck No 18 mm V Mixed Nonsense c.3313A>T p.K1105*
Nonsense c.3826C>T p.R1276*

9 82M Scalp Yes 16 mm V Mixed Splicesite c.3198-2A>C p.? (splice)

10 67M Face Yes 3 mm IV Mixed Nonsense c.532G>T p.E178*
Frameshift c.1968_1969delCT p.A656fs

11 58M Shoulder No 11.5 mm V Mixed Splicesite c.1062+1G>A p.? (splice)

12 66M Scalp Yes 15 mm V Mixed Splicesite c.4174-2A>T p.? (splice)

13 51M Chest Yes 9.5 mm V Mixed Missense c.1327T>C p.F443L

14 49F Nose Yes 15 mm V Mixed Splicesite c.1393-1G>A p.? (splice)
Nonsense c.2088G>A p.W696*

15 37F Trunk No 25 mm V Pure - - -

Abbreviations: M = male; F = Female; MIS = melanoma in situ; mm = millimeter; DM = desmoplastic melanoma; NF = neurofibromin