add Fanconi Anemia terms

Diagnosis/testing.

[x] cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC).

Management.

[x] Administration of oral androgens (e.g., oxymetholone)
[x] blood counts (red cell and platelets, neutrophil)
[x] hematopoietic stem cell transplantation (HSCT) i
[x] surgical removal remains the mainstay of therapy for solid tumors.
[x] Human papilloma virus (HPV) vaccination
[x] T-cell depletion of the donor graft to minimize the risk of graft vs host disease;
[x] conditioning regimen without radiation prior to HSCT to reduce the risk of subsequent solid tumors.

Surveillance: Annual evaluation with a multidisciplinary team including an endocrinologist;

[x] monitoring for evidence of bone marrow failure
[x] at least annual bone marrow aspirate/ biopsy to evaluate morphology, cellularity, and cytogenetics);
[x] monitoring liver function tests and
[x] regular ultrasound examination of the liver;
[x] monitoring for solid tumors (oropharyngeal and gynecologic examinations).

Agents/circumstances to avoid:

[x] Avoid Transfusions of red cells or platelets for persons who are candidates for HSCT;
[ ] Avoid blood products that are not filtered (leukodepleted) or irradiated;
[ ] avoid toxic agents that have been implicated in tumorigenesis;
[x] avoid unsafe sex practices, which increase the risk of HPV-associated malignancy;
[x] avoid radiographic studies solely for the purpose of surveillance (i.e., in the absence of clinical indications).
[x] DEB/MMC testing or
[x] molecular genetic testing (if the family-specific pathogenic variants are known) of all sibs of a proband for early diagnosis, treatment, and monitoring for physical abnormalities, bone marrow failure, and related cancers.
[x] Genetic counseling.

monarch-initiative / MAxO