Cancer predisposition syndrome
Mental model
Inherited mutations → high lifetime risk of specific tumours; radiologist often makes the first call by recognising patterns (multiplicity, bilaterality, “wrong age”, or weird tumour combinations).
Neurocutaneous and CNS-predominant
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- NF2-related schwannomatosis
- Tuberous sclerosis complex
- Von Hippel-Lindau syndrome
- PTEN hamartoma tumour syndrome
- Gorlin syndrome
- PHACE(S) syndrome
- DICER1 syndrome
- Li-Fraumeni syndrome
- Hereditary retinoblastoma
Endocrine and neuroendocrine tumour syndromes
- MEN1
- MEN2A
- MEN2B
- Hereditary paraganglioma-pheochromocytoma syndrome (SDHx)
- Von Hippel-Lindau syndrome
- Carney complex
- PTEN hamartoma tumour syndrome
Renal and genitourinary-predominant
- Von Hippel-Lindau syndrome
- Birt-Hogg-Dubé syndrome
- Oncocytoma
- Chromophobe renal cell carcinoma
- Tuberous sclerosis complex
- Lynch syndrome
- PTEN hamartoma tumour syndrome
- DICER1 syndrome
- Beckwith-Wiedemann syndrome
Gastrointestinal and polyposis syndromes
- Familial adenomatous polyposis / Gardner syndrome
- Lynch syndrome
- Peutz-Jeghers syndrome
- PTEN hamartoma tumour syndrome
- MEN1
- MEN2B
- Beckwith-Wiedemann syndrome
Breast, ovarian and gynaecological-predominant
- BRCA1/2 hereditary breast-ovarian cancer syndrome
- Lynch syndrome
- Li-Fraumeni syndrome
- PTEN hamartoma tumour syndrome
- Peutz-Jeghers syndrome
- DICER1 syndrome
Thoracic and cardiopulmonary-predominant
- Birt-Hogg-Dubé syndrome
- Tuberous sclerosis complex
- DICER1 syndrome
- Carney complex
Paediatric overgrowth and embryonal tumour syndromes
- Beckwith-Wiedemann syndrome
- DICER1 syndrome
- Hereditary retinoblastoma
- Li-Fraumeni syndrome
- Gorlin syndrome
MSK-predominant
- Li-Fraumeni syndrome
- Familial adenomatous polyposis / Gardner syndrome
- Hereditary retinoblastoma
- Gorlin syndrome
- Carney complex
- Neurofibromatosis type 1
