Therapy-related myeloid neoplasm in a patient with TP53 mutation: a dilemma in allogeneic stem cell transplant.

摘要

Germline TP53 mutations are the underlying genetic defect in Li-Fraumeni syndrome (LFS), a complex autosomal dominant disorder characterized by the early occurrence of multiple cancers [1]. Common clinical characteristics in such patients are childhood malignancies, including sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas, along with the development of malignancies in several family members before the age of 45 years. Lung carcinoma, hematopoietic system malignancies, stomach cancer, colorectal cancer, ovarian carcinoma, and skin cancer occur less frequently, accounting for 15% of tumors in individuals with LFS [2].