Table 2:
Summary of Published Surveillance Guidelines in RASopathies
| RASopathy | Cancer Surveillance Recommendations |
Source | Source Details |
|---|---|---|---|
| Costello syndrome (HRAS) | 0 to 8–10 yrs: Physical exam and abdominal ultrasound +/− Chest radiograph every 3–4 months Age 10+: Annual urinalysis |
(Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
| 0 to 8–10 yrs: Physical examination plus abdominal and pelvic ultrasounds are suggested every 3 months Age 10+: Annual urinalysis |
(Gripp, Morse et al. 2019) | Expert opinionB | |
| Nasal endoscopy and ear examination including tympanography every 4-6 months | (Ahmadi and Harley 2010) | Expert opinionB | |
| Age 10+: Cystoscopy every 12-24 months | (Leoni, Paradiso et al. 2022) | Expert opinionB | |
| Cardiofaciocutaneous syndrome (BRAF, MAP2K1, MAP2K2, KRAS) | No routine surveillance* | (Rauen, Adam et al. 1993, Pierpont, Magoulas et al. 2014, Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) & Expert opinions |
| Noonan syndrome with specific high-risk mutations (PTPN11; e.g., codon 61 or T73I), (KRAS; e.g., T58I) | 0 to 5 years: Physical exam (with assessment of spleen) and CBC with differential every 3–6 months | (Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
| CBC with differential at baseline evaluation and then as clinically indicated; physical exam with evaluation for hepatosplenomegaly | (Porter, Druley et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) | |
| Noonan syndrome; no high risk variant (SOS1, RAF1, RIT1, SOS2, RRAS, LZTR1, BRAF, non high-risk PTPN11, KRAS) | No routine surveillance* | (Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
| CBC with differential at diagnosis and after 6–12 months of age if initial screen performed in infancy | (Romano, Allanson et al. 2010) | Interdisciplinary Expert PanelA (Noonan Syndrome Support Group) | |
| CBC with differential at diagnosis and repeat at least once after >1 year old, then as clinically indicated; physical exam with evaluation for hepatosplenomegaly | (Roberts, Allanson et al. 2013) | Expert opinionB | |
| CBL syndrome (CBL) | 0 to 5 years: Physical exam (with assessment of spleen) and CBC with differential every 3–6 months | (Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
| CBC with differential at baseline evaluation and then as clinically indicated; physical exam with evaluation for hepatosplenomegaly | (Porter, Druley et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) | |
| CBC with differential at baseline evaluation and at least once after > 1 year old, then as clinically indicated; physical exam with evaluation for hepatosplenomegaly | (Roberts, Allanson et al. 2013) | Expert opinionB | |
| Noonan syndrome with multiple lentigines (PTPN11, RAF1, BRAF, MAP2K1) | No routine surveillance* | (Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
| Noonan syndrome with loose anagen hair (PPPC1B, SHOC2) | No routine surveillance* | (Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
| Legius Syndrome | No routine surveillance* | (Villani, Greer et al. 2017) | Consensus RecommendationsA (American Association for Cancer Research) |
*
For patients with these conditions, there should still be increased awareness and low threshold for investigating new potential tumor-related symptoms (Villani, Greer et al. 2017).
A
Consensus recommendations are defined as widely accepted guidelines from disease-specific experts in the field.
B
Expert opinion is defined as a recommendation based on individual subspecialist or single institution study. These opinions are not widely accepted in the RASopathy community but are included in this review for completeness.