Genotype–phenotype analysis in 146 patients with PTEN hamartoma tumour syndrome
| Number | Mutation types | Protein domains | |||||
|---|---|---|---|---|---|---|---|
| Lesion types (informative population) | n (%) | Truncated (%) | No truncated (%) | p Value* | Phosphatase (%) | C2 (%) | p Value* |
| Mucocutaneous lesions (98) | 96 (98) | – | – | – | – | – | – |
| Oral papillomatosis (92) | 78 (85) | 53/65 (81) | 25/27 (92) | 0.2† | 47/55 (85) | 28/34 (82) | 0.7 |
| Acral keratosis (92) | 75 (82) | 57/66 (86) | 18/26 (69) | 0.1 | 44/53 (83) | 27/34 (79) | 0.7 |
| Trichilemmomas (61) | 23 (38) | 15/39 (38) | 8/22 (36) | 0.9 | 16/39 (41) | 6/21 (29) | 0.3 |
| Genital pigmentation (50) | 23 (46) | 18/37 (49) | 5/13 (38) | 0.5 | 14/25 (56) | 8/24 (33) | 0.1 |
| Thyroid lesions | |||||||
| Benign (136) | 96 (71) | 70/95 (74) | 26/41 (63) | 0.2 | 56/76 (74) | 36/54 (67) | 0.1 |
| Multinodular goitre (131) | 81 (62) | – | – | – | – | – | – |
| Adenomas (131) | 30 (23) | – | – | – | – | – | – |
| Malignant (140) | 24 (17) | 18/96 (19) | 6/44 (14) | 0.8 | 13/79 (16) | 10/55 (18) | 0.6 |
| Breast lesions | |||||||
| Benign (65) | 48 (74) | – | – | – | – | – | – |
| Malignant (68) | 23 (34) | 15/43 (35) | 8/25 (32) | 0.5 | 13/44 (30) | 8/22 (36) | 0.5 |
| Bilateral breast cancer (23) | 11 (48) | – | – | – | – | – | – |
| Digestive lesions (80) | 74 (93) | – | – | – | – | – | – |
| Colonic polyps (79) | 67 (85) | 54/61 (88) | 13/18 (72) | 0.1† | 38/46 (83) | 24/28 (86) | 0.7 |
| Hamartomas (66) | 29 (44) | – | – | – | – | – | – |
| Lymphoid hyperplasia (65) | 23 (35) | – | – | – | – | – | – |
| Adenomas (64) | 22 (34) | – | – | – | – | – | – |
| Ganglioneuromas (65) | 16 (25) | – | – | – | – | – | – |
| Lipomas (65) | 4 (6) | – | – | – | – | – | – |
| Gastric polyps (60) | 44 (73) | – | – | – | – | – | – |
| Glycogenic acanthosis (58) | 28 (48) | 20/43 (46) | 8/15 (53) | 0.6 | 18/33 (54) | 8/21 (38) | 0.2 |
| Lipovascular lesions | |||||||
| Lipomatosis (135) | 65 (48) | 50/93 (54) | 15/42 (36) | 0.2 | 33/76 (43) | 27/53 (51) | 0.2 |
| Vascular lesions (136) | 48 (35) | 33/94 (35) | 15/42 (35) | 0.6 | 28/77 (36) | 19/53 (36) | 0.6 |
| Brain lesions | |||||||
| Macrocephaly (122) | 113 (93) | – | – | – | – | – | – |
| Lhermitte–Duclos (144) | 19 (13) | – | – | – | – | – | – |
| Mental retardation/autism (144) | 15 (10) | – | – | – | – | – | – |
| Epilepsy (144) | 12 (8) | – | – | – | – | – | – |
| Genitourinary lesions | |||||||
| Male (57) | 5 (9) | – | – | – | – | – | – |
| Female (52) | 27 (52) | – | – | – | – | – | – |
| Ovarian cyst (52) | 19 (37) | – | – | – | – | – | – |
| Uterine fibromas (52) | 13 (25) | – | – | – | – | – | – |
*A value of p<0.05 was considered to be statistically significant. −, χ2 tests could not be performed when age at onset of lesions was not available (benign breast lesions, neurologic and genitourinary anomalies), or when clinical features were present in almost all documented cases (global dermatologic lesions, gastrointestinal polyps and macrocephaly).
†Fisher test.