FA post-HCT screening recommendations
| Late effect/organ system . | Disease-specific abnormality . | Recommendations . |
|---|---|---|
| Cancer screening | • SCC: head, neck, anogenital region • Nonmelanoma skin cancer: basal cell carcinoma and SCC • Breast cancer • CNS tumors • Wilms tumor | • ENT evaluation of the head and neck region every 6-12 months starting at age 10 years with possibility of nasolaryngoscopy • Dermatological evaluation yearly • Gynecological exam annually starting at puberty • Pap smear starting at 18 years or sexual activity • Encourage HPV vaccination • Additional surveillance and genetic counseling for those with FANCD1 (BRCA2)—leukemia, brain tumors, Wilms tumor, breast cancer; FANCJ (BACH1), FANCN (PALB2), FANCO (RED51C)—familial breast cancer genei,ii • Patients with total-body irradiation or chest RT require screening mammography starting at age 25 or 8 years after radiation exposure (no later than 40 years)1 • Chronic GVHD screening |
| Endocrinology | • Hypothyroidism • Glucose dysregulation: insulin resistance/diabetes • Growth hormone deficiency/bone health • Metabolic syndrome | • Annual TSH, free T4 • Oral glucose tolerance testing, insulin levels annually • Growth evaluation, BMI, and bone health, 25-hydroxy vitamin D levels, DXA scan annually • Dyslipidemia screening |
| Renal | • Renal anomalies | • Close follow-up on renal-specific anomalies |
| Reproductive-gonadal | • Genitourinary malformations • Premature ovarian and testicular insufficiency | • Follow-up with urology on genitourinary-specific anomalies • Tanner staging, physical exam, and long-term screening for premature ovarian/testicular insufficiency: FSH, LH, AMH, inhibin B • Fertility counseling services |
| Audiology | • Conductive hearing loss | • Audiology screening and referral for hearing-assistive devices with abnormalities |
| Late effect/organ system . | Disease-specific abnormality . | Recommendations . |
|---|---|---|
| Cancer screening | • SCC: head, neck, anogenital region • Nonmelanoma skin cancer: basal cell carcinoma and SCC • Breast cancer • CNS tumors • Wilms tumor | • ENT evaluation of the head and neck region every 6-12 months starting at age 10 years with possibility of nasolaryngoscopy • Dermatological evaluation yearly • Gynecological exam annually starting at puberty • Pap smear starting at 18 years or sexual activity • Encourage HPV vaccination • Additional surveillance and genetic counseling for those with FANCD1 (BRCA2)—leukemia, brain tumors, Wilms tumor, breast cancer; FANCJ (BACH1), FANCN (PALB2), FANCO (RED51C)—familial breast cancer genei,ii • Patients with total-body irradiation or chest RT require screening mammography starting at age 25 or 8 years after radiation exposure (no later than 40 years)1 • Chronic GVHD screening |
| Endocrinology | • Hypothyroidism • Glucose dysregulation: insulin resistance/diabetes • Growth hormone deficiency/bone health • Metabolic syndrome | • Annual TSH, free T4 • Oral glucose tolerance testing, insulin levels annually • Growth evaluation, BMI, and bone health, 25-hydroxy vitamin D levels, DXA scan annually • Dyslipidemia screening |
| Renal | • Renal anomalies | • Close follow-up on renal-specific anomalies |
| Reproductive-gonadal | • Genitourinary malformations • Premature ovarian and testicular insufficiency | • Follow-up with urology on genitourinary-specific anomalies • Tanner staging, physical exam, and long-term screening for premature ovarian/testicular insufficiency: FSH, LH, AMH, inhibin B • Fertility counseling services |
| Audiology | • Conductive hearing loss | • Audiology screening and referral for hearing-assistive devices with abnormalities |
These recommendations have been adapted from published guidelines.1-4
AMH, anti-Mullerian hormone; BMI, body mass index; DXA, dual energy X-ray absorptiometry analysis; ENT, otolaryngology; FANC, Fanconi anemia complementation; FSH, follicle-stimulating hormone; HPV, human papillomavirus; LH, luteinizing hormone; RT, radiation therapy; T4, thyroxine; TSH, thyroid stimulating hormone.
Woodward ER, Meyer S. Fanconi anaemia, childhood cancer and the BRCA genes. Genes. 2021;12(10):1520. doi:10.3390/genes12101520.
Zierhut HA, Bartels DM. Waiting for the next shoe to drop: the experience of parents of children with Fanconi anemia. J Genet Couns. 2012;21(1):45-58.