Table 7.

Recommended Surveillance for Individuals with Fanconi Anemia

System/ConcernEvaluationFrequency
Growth Growth/feeding/nutrition assessmentAt each visit throughout childhood
Scoliosis Spine exam
Strabismus/
Cataracts 		Exam by ophthalmologistAt each visit throughout childhood, then annually
Endocrine
manifestations 1 		Endocrine eval incl:
  • TSH & free T4
  • 25-hydroxy vitamin D
  • 2-hr oral glucose tolerance test, insulin levels
Annually
Pubertal stage & hormone levelsAt puberty, then every 2 yrs until puberty complete
Hearing loss Formal hearing evalAt diagnosis & serially if exposed to ototoxic medications (e.g., chemotherapy agents)
Development Developmental assessmentAnnually throughout childhood
Pancytopenia Blood countsEvery 3-4 mos while stable & more often as needed 2, 3
Myelodysplasia
  • Bone marrow aspirate/biopsy to evaluate morphology & cellularity
  • FISH; & cytogenetics to evaluate for emergence of a malignant clone
  • At least annually (after age 2 yrs)
  • In persons on GCSF, bone marrow aspirate/biopsy every 6 mos, if possible
  • Prompt investigation for hematologic disease progression incl in those who develop Sweet syndrome
Liver dysfunction
due to androgen
therapy 		Liver function testsEvery 3-6 mos in those receiving androgen therapy
Liver ultrasound exam for androgen-related changes, incl tumorsEvery 6-12 mos in those receiving androgen therapy
Genital tract
cancers 		Gynecologic assessment for genital lesionsAnnually beginning at age 13
Thorough vulvo-vaginal exam & Pap smearAnnually beginning at age 18 or w/onset of sexual activity
Suspicious genital tract lesions should be biopsiedEvery 3-6 mos in those w/history of premalignant or malignant lesions
Oral, head, &
neck cancers 		Exam by dentist, oral surgeon, or ENT familiar w/FA
  • Every 6 mos beginning by age 9-10 yrs
  • Every 2-3 mos in those w/history of premalignant or malignant lesions
NasolaryngoscopyAnnually beginning at age 10 yrs, or w/in first year after HSCT
Eval for esophageal cancer in those w/difficulty or pain w/swallowing
Skin cancers Eval by dermatologistEvery 6-12 mos
BRCA2-related
FA 4, 5 		Abdominal ultrasound, brain MRIAnnually starting at diagnosis (incl newborns)
1.

For example, hypothyroidism, vitamin D deficiency

2.

Progressively changing blood counts without a potential cause (e.g., acute infection or suppression from medication) require immediate evaluation with a complete blood count and bone marrow examination with FISH and cytogenetics.

3.

It is important to recognize that rising blood counts can be due to either the development of MDS/AML or, rarely, reversion of a germline pathogenic variant in a stem cell, which repopulates the marrow with normal cells (somatic stem cell mosaicism). These individuals may require immediate HSCT (for MDS/AML) or continued close monitoring with complete blood counts at least every one to two months and a bone marrow examination with cytogenetics every six months.

4.

Neuroblastomas, brain tumors, kidney tumors

5.

These cancer surveillance recommendations may be considered for persons with PALB2-related Fanconi anemia in the absence of consensus guidelines.

From: Fanconi Anemia

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