Table III.
Case | Author | Year | Age | Sex | Type | Mutation | Gene/Chromosome | Country | (Refs.) |
---|---|---|---|---|---|---|---|---|---|
1 | Hiyama et al | 1993 | 77 | M | AC | point mutation Cys>Phe | p53 | Japan | (38) |
Deletion mutation | Rb | ||||||||
2 | Lohmann et al | 1993 | 65 | F | TC | Neutral mutation Cys>Tyr | p53 | Germany | (22) |
3 | 68 | M | TC | Missense mutation Glu>Lys | p53 | ||||
4 | 72 | F | TC | Missense mutation Val>Met | p53 | ||||
5 | Debelenko et al | 1997 | 46 | NA | TC | Frameshift mutation 1650insC | MEN1 | USA | (37) |
6 | 56 | NA | TC | Alteration of splicing, frameshift mutation 764+3A>G | MEN1 | ||||
7 | 63 | NA | TC | Frameshift mutation 134del13 (GACGCTGTTCCCG) | MEN1 | ||||
8 | 49 | NA | TC | Frameshift mutation 1699delA and 1702G>C | MEN1 | ||||
9 | Sagawa et al | 1998 | NA | NA | AC | point mutation | K-ras | USA | (36) |
10 | Couce et al | 52 | F | AC | K-ras c12 Gly>Ser missense mutation | K-ras | USA | (35) | |
11 | 39 | F | AC | K-ras c12 Gly>Asp missense mutation | K-ras | ||||
12 | 61 | F | AC | Exon 8 c298 Glu>Stop missense mutation | p53 | ||||
13 | Sugio et al | 2003 | NA | NA | AC | Loss of heterozygosity in 3p14 | 3p14 | Japan | (34) |
14 | NA | NA | AC | Loss of heterozygosity in 9p | 9p | ||||
15 | Snabboon et al | 2005 | 68 | F | TC | Deletion mutation at exon 10 (1793delG) | MEN1 | Thailand | (33) |
16 | D'Alessandro et al | 2010 | 29 | F | TC | Exon 5 c.733-16C>T | ELAVL4 | Italy | (32) |
17 | 50 | M | TC | Exon 5 c.666A>T | ELAVL4 | ||||
Exon 5 c.712C>T | ELAVL4 | ||||||||
18 | 70 | F | TC | Somatic mutation Exon 4 c.424delA | ELAVL4 | ||||
Exon 5 c.559G>A | ELAVL4 | ||||||||
19 | 47 | M | AC | Exon 4 c.387C>T | ELAVL4 | ||||
Single nucleotide polymorphism | ELAVL4 | ||||||||
Exon 5 c.687T>C | |||||||||
c.1367+56C>T 3′UTR | ELAVL5 | ||||||||
20 | 54 | M | AC | Somatic mutation Exon 5 | ELAVL4 | ||||
c.655C>T | |||||||||
Exon 5 c.704G>A | ELAVL4 | ||||||||
21 | Capodanno et al | 2012 | NA | NA | TC | Missense mutation c.1576 A>G | PI3K | Italy | (31) |
22 | NA | NA | TC | Missense mutation c.1639 G>A | PI3K | ||||
23 | NA | NA | TC | Missense mutation c.1639 G>A | PI3K | ||||
24 | NA | NA | TC | Missense mutation c.1639 G>A | PI3K | ||||
25 | NA | NA | AC | Missense mutation c.1639 G>A | PI3K | ||||
26 | NA | NA | TC | Missense mutation c.2993 T>C | PI3K | ||||
27 | NA | NA | AC | Missense mutation c.3007 T>C | PI3K | ||||
28 | NA | NA | AC | Missense mutation c.3017 T>C | PI3K | ||||
29 | NA | NA | AC | Missense mutation c.3022 T>C | PI3K | ||||
30 | NA | NA | TC | Missense mutation c.3034 G>A | PI3K | ||||
31 | NA | NA | AC | Missense mutation c.3041 A>G | PI3K | ||||
32 | NA | NA | AC | Missense mutation c.3050 A>T | PI3K | ||||
33 | NA | NA | AC | Missense mutation c.3062 A>G | PI3K | ||||
34 | NA | NA | TC | Missense mutation c.3061 T>A | PI3K | ||||
35 | NA | NA | AC | Missense mutation c.3068 G>A | PI3K | ||||
36 | NA | NA | TC | Missense mutation c.3133 G>A | PI3K | ||||
37 | NA | NA | TC | Missense mutation c.3145 G>A | PI3K | ||||
38 | NA | NA | TC | Missense mutation c.3145 G>A | PI3K | ||||
39 | NA | NA | AC | Missense mutation c.3155 C>T | PI3K | ||||
40 | Voortman et al | 2013 | NA | NA | TC | Missense mutation Exon 14 T1010I mutation | c-Met | USA | (30) |
41 | Armengol et al | 2015 | 69 | Male | TC | Missense mutation c.1796C>T | BRAF | Finland | (29) |
Missense mutation c.1496G>A | SMAD4 | ||||||||
Missense mutation c.3074C>T | SMAD4 | ||||||||
Missense mutation c.38G>A | KRAS | ||||||||
42 | Vollbrecht et al | 2015 | NA | NA | AC | Missense mutation c.311T>A | EGFR | Germany | (28) |
Missense mutation c.311T>A | EGFR | ||||||||
Insertion mutation c.2516_2517insC | GNAS | ||||||||
Deletion mutation c.1912delA | KIT | ||||||||
Missense mutation c.1015C>T | PTEN | ||||||||
43 | NA | NA | AC | Deletion and insertion mutation | KDR | ||||
c.1416_1417delinsTA | |||||||||
44 | NA | NA | AC | Missense mutation c.2744C>A | ERBB4 | ||||
45 | NA | NA | AC | Missense mutation c.3788G>A | APC | ||||
Insertion mutation c.855_856insG | FGFR1 | ||||||||
Insertion mutation c.3730_3731insC | MET | ||||||||
46 | NA | NA | AC | Deletion and insertion mutation | RET | ||||
c.2712_2713delinsGG | |||||||||
47 | NA | NA | AC | Deletion and insertion mutation | ERBB2 | ||||
c.2354_2355delinsGG | |||||||||
48 | NA | NA | AC | Missense mutation c.3367C>T | APC | ||||
Missense mutation c.112G>A | KRAS | ||||||||
49 | NA | NA | AC | Deletion mutation c.862delG | HNF1A | ||||
50 | NA | NA | AC | Missense mutation c.2602C>T | ERBB2 | ||||
Missense mutation c.1100T>G | SMO | ||||||||
51 | NA | NA | AC | Deletion and insertion mutation | KIT | ||||
c.1637_1638delinsGG | |||||||||
Missense mutation c.274C>T | PI3K | ||||||||
Missense mutation c.167C>T | SMARCB1 | ||||||||
52 | NA | NA | AC | Insertion mutation c.3730_3731insC | MET | ||||
53 | NA | NA | TC | Deletion and insertion mutation | RET | ||||
c.2711_2713delinsTGG | |||||||||
54 | NA | NA | TC | Missense mutation c.3386T>C | APC | ||||
55 | NA | NA | TC | Missense mutation c.2624C>T | ERBB2 | ||||
56 | NA | NA | TC | Deletion and insertion mutation | ERBB2 | ||||
c.2354_2355delinsGG | |||||||||
57 | NA | NA | TC | Missense mutation c.2531G>A | GNAS | ||||
58 | NA | NA | TC | Missense mutation c.2318A>C | EGFR | ||||
Missense mutation c.274T>A | IDH1 | ||||||||
Missense mutation c.267A>C | IDH1 | ||||||||
59 | NA | NA | TC | Deletion and insertion mutation | PDGFRA | ||||
c.2471_2472delinsCT | |||||||||
60 | NA | NA | TC | Missense mutation c.920C>T | ABL1 | ||||
Missense mutation c.505C>T | SMAD4 | ||||||||
61 | Lou et al | 2017 | 23 | Male | NA | NA | PI3K | China | (27) |
NA, not available; Rb, RB transcriptional corepressor 1; MEN1, menin 1; ELAV4, ELAV-like RNA-binding protein 4; PI3K, phosphatidylinositol 3-kinase, putative; NA, not applicable.