Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.
Publication/Presentation Date
12-1-2018
Abstract
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present. TAR syndrome is not generally associated with bone marrow failure or malignancy. Janus kinase-2, myeloproliferative leukemia protein, and calreticulin are not mutated in TAR patients. Only four cases of leukemia were reported in TAR patients in the literature: three acute myeloid leukemia (AML) and one acute lymphoblastic leukemia. Of the three cases of AML found in TAR patient, only one was reported in an adult. We report a case of myelodysplastic syndrome progressing to AML with calreticulin driver mutation in an adult male with TAR syndrome who was successfully treated with hematopoietic allogeneic stem cell transplantation.
Volume
11
Issue
4
First Page
245
Last Page
247
ISSN
2589-0646
Published In/Presented At
Jameson-Lee, M., Chen, K., Ritchie, E., Shore, T., Al-Khattab, O., & Gergis, U. (2018). Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature. Hematology/oncology and stem cell therapy, 11(4), 245–247. https://doi.org/10.1016/j.hemonc.2017.02.001
Disciplines
Medicine and Health Sciences
PubMedID
28259746
Department(s)
Department of Medicine, Lehigh Valley Topper Cancer Institute
Document Type
Article