This protocol applies to adolescents and young adults (up to age 40) with Fanconi anemia who have developed new-onset bone marrow failure without myeloid malignancy, and whose hematopoietic function has not stabilised on initial supportive treatment.
Clinical scenario: AYA patient (up to age 40 years) with Fanconi anemia presenting with new-onset bone marrow failure, without myeloid malignancy. Any such patient presenting with bone marrow failure or associated chromosomal abnormalities, or unusual solid tumors for age, should have undergone diagnostic evaluation for Fanconi anemia.
Initial management with supportive therapy — including androgen therapy, metformin, or eltrombopag — did not achieve stable hematopoietic function. These strategies carry a reasonable role in new-onset bone marrow failure given the age-based risks of more intensive approaches; however, when they prove insufficient, a next-line protocol applies.
For patients with Fanconi anemia and good organ function who are unresponsive to supportive strategies, the approach involves hematopoietic stem cell transplantation using novel strategies. The full protocol details the complete approach, eligibility criteria, and sequencing.
DOI: 10.1182/hematology.2023000489
Any AYA patient (up to age 40 years) who presents with BMF or MM associated with 1q, 3q, or 7q copy number abnormalities/translocations or unusual solid tumors for age (oral, head/neck, genital) should undergo a diagnostic evaluation for FA.
In contrast, use of these supportive strategies is reasonable for new-onset BMF occurring in AYA patients, as these individuals are already at high age-based risk for HSCT complications.
For AYA patients with FA unresponsive to these approaches with good organ function, novel HSCT strategies testing risk-adapted alkylator dosing are currently in clinical trials (NCT02143830) to reduce rates of severe toxicities responsible for poor OS in AYA patients.
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