Table 1 Clinical and biomolecular features of 11 patients with NF1 syndrome
| Â | Â | Â | Clinical features in the proband | Â | ||||
|---|---|---|---|---|---|---|---|---|
Patient N° | Gender, (age in yrs) | Germline mutation | NFs (site) | Café-au lait spots | Freckling | Lisch Nodules | Other clinical features | NFs andTumors in the family (age in yrs) |
Proband 1 | F (16) | Absent | NFs (chest) | > 6 CAL | Present | Present | None | Father: NFs; Liver (69); Duaghter: NF1 |
Proband 2 | F (64) | Exon: 20 c.2093_2094delCT p.(Pro698Argfs*3) | NFs (trunk, face, limbs) | > 3 CAL | Axillary and inguinal | N/A | Multiple lipomas, Adrenal adenoma, hepatic angioma, inflammatory polyp of the bowel | Son: Cerebral glioblastoma (30) Son: CAL, NFs |
Proband 3 | M (47) | Exon: 4 c. 479 G > C p.(Arg160Thr) | NFs (trunk, face) | > 6 CAL | Absent | Present | Seminoma, adrenal adenoma | Mother: Breast cancer (59) |
Proband 4 | M (36) | Exon 20 c.3457_3460delCTCA p.(Leu1153Metfs*4) | NFs (abdomen, limbs, face) | > 6 CAL | Axillary | N/A | Plexiform neurofibroma of the forehead, orbito-sphenoid dysplasia, hearing loss, oligophrenia | Mother: NFs;Daughter: NFs Aunt: Larynx (68) Cousin: Pancreas (53) |
Proband 5 | M (50) | Exon 6: large deletion | NFs (Face, Chest, scalp) | > 6 CAL | Axillary and inguinal | N/A | Duodenal GIST, adenocarcinoma of the colon | Mother: NFs; Colon (70); Brother: Colon (59) Uncle: NET (72) Aunt: Lung (52) |
Proband 6 | M (71) | Exon 20 Del c 3457-3460del CTCA p.(Leu1153Metfs*4) | NFs (trunk, face) | > 6 CAL | Axillary | N/A | Duodenal GIST, adenocarcinoma of the rectum | Mother: Renal cell carcinoma (75); Sister: Renal cell carcinoma (49) |
Proband 7 | M (56) | Exon 6 c.750delT p.(Phe250Leufs*31) | NFs (trunk) | > 6 CAL | Axillary and inguinal | Present | Plexiform neurofibroma of the sculp | Brothers:NFs;Lung (70); Son:NFs; Mother:NFs Uncles:NFs Aunt:NFs |
Proband 8 | F (33) | Intron 46, c.8051-70A > T | NFs (trunk and limbs) | > 6 CAL | Axillary | Present | Optic glioma | Aunt: Lung (72) |
Proband 9 | F (38) | Not tested (proband deceased) | NFs (chest, limbs) | > 6 CAL | Axillary | None | Ductal carcinoma in situ, Schwannoma. | Cousin:NFs; Ancle:NFs |
Proband 10 | F(70) | Not tested (proband deceased) | NFs (trunk, limbs) | > 6 CAL | Inguinal | None | None | Â |
Proband 11 | F (41) | Under investigation | Absent | > 6 CAL | Absent | N/A | Ductal carcinoma (41) | Daughter: > 6 CAL(4) Grandfather: NFs, ADK colon (65) Uncle: bown sarcoma |