D2.369 - Acute Myeloid Leukemia in a Patient With X-linked Agammaglobulinemia

X-linked agammaglobulinemia (XLA) patients are prone to suffer from recurrent infections mostly involving the respiratory tract that may culminate in chronic lung disease and lead to bronchiectasis. Other, less common complications include the development of malignancies, particularly colorectal cancer and gastric adenocarcinoma likely to be due to chronic infection and increased cell turn. Lymphoid malignancies, particularly acute myeloid leukemia (AML), have been reported rarely. Here we present the development of AML in a patient with XLA.

Case report

A 2-month-old asymptomatic infant was investigated due to his older brother's XLA diagnosis, and demonstrated a complete absence of CD19+ B cells in peripheral blood lymphocytes and a mutation in the BTK gene, confirming the diagnosis of XLA. Monthly intravenous immunoglobulin infusions were initiated for the patient, and he was placed under regular monthly follow-up.

At the age of 11 years, during follow-up the patient presented with a rash. Due to the presence of neutropenia and thrombocytopenia, a peripheral blood smear was performed, revealing myeloblasts. Bone marrow aspiration smear showed 90% myeloblasts. Due to t(9;11) positivity and complex karyotype, the patient was evaluated as a high-risk group according to AML-BFM 2019, and chemotherapy was initiated. After 5 blocks of chemotherapy, allogeneic hematopoietic stem cell transplantation was performed using 9/10 unrelated donor. Engraftment was achieved, and post-transplant follow-up is ongoing.

Conclusion

To improve the prognosis and quality of life of XLA patients, regular monitoring of respiratory signs and also follow-up for rare complications such as malignancy development should be carried out to allow for timely diagnosis and treatment initiation.