Table 1 Characteristics of the PIP-São Paulo deletion patients: mutation status, clinical phenotype, type of tumor and age at diagnosis
From: Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Patient ID | Cohort | Mutation status | Tumor (age) | Other characteristics |
|---|---|---|---|---|
Patient 1 | LFS/LFL | Non-mutated | Dermatofibrosarcoma (55) | LFL Eeles 1 |
Patient 2 | LFS/LFL | Non-mutated | Endometrium sarcoma (65) | LFL chompret |
Patient 3 | Pediatric | — | Pilocytic astrocytoma of the fourth ventricle (9) | Slender build; triangular face; strabismus; bilateral ptosis of eyelids; palpebral fissures slant down; sparse eyebrows; hypoplastic alae nasi; hypoplastic maxilla; right unilateral auricular pit; left unilateral auricular tag and one café-au-lait spot |
Patient 4 | FAP | Non-mutated | Colorectal cancer (56) | Missense variant not previously reported (c.5365G>C p.Val1789Leu) |
Patient 5 | Multiple tumors | — | Colorectal cancer (47) | Adenoma (50) |
Patient 6 | Multiple tumors | — | Rhabdomyosarcoma (13), breast cancer (38) | |
Patient 7 | Multiple tumors | — | Ewing (16), schwanoma (21) | Dermatofibroma (21) |
Patient 8 | Multiple tumors | — | Osteosarcoma (13) | fibroadenoma (31), fibroadenoma (35) |
Patient 9 | Familial melanoma | — | Melanoma (53) | |
Patient 10 | Familial melanoma | — | Melanoma (46) | |
Y87 | LFS/LFLa | TP53 mutation (S241Y TCC>TAC) | Rhabdomyosarcoma (4), choroid plexus tumor (7), liposarcoma (10) | Osteochondroma (10), passed away (11) LFL chompret |
