Table 1 .
Patient | Patient Profile | Age at presentation to genetics clinic | Referred by | Clinical Features (age at diagnosis) | Family History of PNST or related cancers or features suggestive of hereditary PNSTs | Family history of other unrelated cancers | Genetic Test Result | ||
|---|---|---|---|---|---|---|---|---|---|
Gene | Genetic Variant | Novel/Previously Reported | |||||||
1 | Chinese Singaporean. Female | 47 | Breast Surgeon | 5 Spinal Nerve Schwannomas along Cauda Equina, T9-10, L1-L2 (45–48), 1 right paraspinal nerve sheath Schwannoma (45) | Nil | Yes; Maternal aunt: benign brain tumor (40 s); maternal uncle: colorectal cancer (70 s); maternal first cousin: breast cancer (40 s); paternal uncle: liver cancer (60 s) | LZTR1 | c.1768C > T; p.(Gln590*); Nonsense variant (pathogenic) Reference:NM_006767.3 | Novel |
2 | Chinese Singaporean. Male | 28 | Radiation Oncologist | Left S2 nerve root schwannoma (27), multiple cauda equina schwannomas (27) | Nil | Nil | LZTR1 | c.1210G > A; p.Gly404Arg; Possible splice site creation Reference:NM_006767.3 | Previously reported (13, 21) |
3 | Chinese Singaporean Male | 32 | Musculoskeletal Oncologist | Single plexiform coccygeal nerve neurofibroma (33); > 5 café au lait macules > 15 mm | Nil | Nil | NF1 | c.2033dup; p. Ile679Aspfs*21; Duplication (pathogenic). Reference:NM_000267.3 | Previously reported (14–18) |
4 | Chinese Singaporean. Female | 22 | Hand Surgeon | Cutaneous Neurofibromas, > 5 café au lait macules > 15 mm, axillary freckling, L1-L4 intradural extramedullary neurogenic tumour, large right C2 extradural neurogenic tumour, Bilateral acoustic neuroma with brainstem compression, Bilateral trigeminal nerve schwannomas, Bilateral jugular foramen neurofibroma (22) | Nil | Yes; Mother: Breast cancer (46), 4 Maternal aunts: Breast cancer (ages 58, 64, 66 and 66), Maternal first cousin: Breast cancer (37), Maternal grandfather: Brain tumor (60 s) | NF2 | c.732 T > A; p. Tyr244Ter; Nonsense variant (likely pathogenic). Reference:NM_016418.5 | Novel |
5 | Chinese Singaporean Male | 32 | Dermatologist | Right ankle deep peroneal nerve plexiform neurofibroma (27); left brachial plexus plexiform neurofibroma (32); multiple cutaneous neurofibromas; axillary freckling, multiple bilateral Lisch nodules, > 5 café au lait macules > 15 mm | Nil | Nil | - | Not done | - |
6 | Chinese Singaporean Female | 48 | Neurologist | Multiple cutaneous neurofibromas, axillary freckling, bilateral multiple Lisch nodules, > 5 café au lait macules > 15 mm | Yes; Mother: clinical features of NF-1; maternal grandmother: clinical features of NF-1 | Yes; daughter: leukemia (3), sister blood cancer (18) | - | Not done | - |
7 | Indian Singaporean. Male | 37 | Pediatrician | Multiple cutaneous and subcutaneous neurofibromas, axillary freckling, > 5 café au lait macules > 15 mm | Yes; son: clinical features of NF-1 | Yes; mother: colorectal cancer (50 s), paternal uncle: lung cancer (56); maternal first cousin: breast cancer (40 s); maternal great grandfather: throat cancer (unknown age) | - | Not done | - |
8 | Chinese Singaporean Male | 19 | Primary care physician (military screening) | Right lumbosacral paravertebral nerve plexiform neurofibroma (19), axillary freckling, > 5 café au lait macules > 15 mm | Yes; Brother: clinical features of NF-1; mother: clinical features of NF-1 | Nil | - | Not done | - |
9 | Chinese Singaporean Female | 22 | Pediatric Nephrologist | Multiple cutaneous neurofibromas, axillary freckling, > 5 café au lait macules > 15 mm | Yes; Father: clinical features of NF-1; sister: clinical features of NF-1 | Nil | - | Not done | - |
10 | Chinese Singaporean Female | 29 | Musculoskeletal Oncologist | Left tibial nerve plexiform neurofibroma (27), multiple cutaneous neurofibromas, > 5 café au lait macules > 15 mm | Nil | Yes; Father: prostate cancer (50 s) | - | Not done | - |
11 | Chinese Singaporean Female | 18 | Primary care physician | Multiple cutaneous neurofibromas, axillary freckling, > 5 café au lait macules > 15 mm | Yes; Father: clinical features of NF-1; paternal grandmother: clinical features of NF-1 | Nil | - | Not done | - |
12 | Chinese Singaporean Male | 40 | Medical Oncologist | Malignant PNST (right medial thigh, 39), multiple cutaneous neurofibroma, axillary freckling | Nil | Nil | - | Not done | - |
13 | Chinese Singaporean Male | 21 | Musculoskeletal Oncologist | Plexiform neurofibroma of right superficial branch of radial nerve (since birth), multiple cutaneous neurofibromas, > 5 café au lait macules > 15 mm, axillary freckling | Nil | Yes; Mother: cervical squamous cell carcinoma (43) | - | Not done | - |