title: Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.
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.
authors.affiliation: Weill Cornell Medical College, New York, NY, USA.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Jameson-Lee
authors.affiliation: Weill Cornell Medical College, New York, NY, USA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Chen
authors.affiliation: Weill Cornell Medical College, New York, NY, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Ritchie
authors.affiliation: Weill Cornell Medical College, New York, NY, USA.
authors.forename: Tsiporah
authors.initials: T
authors.lastname: Shore
authors.affiliation: New York Presbyterian Hospital, USA.
authors.forename: Omar
authors.initials: O
authors.lastname: Al-Khattab
authors.affiliation: Weill Cornell Medical College, New York, NY, USA. Electronic address: usg2001@med.cornell.edu.
authors.forename: Usama
authors.initials: U
authors.lastname: Gergis
mesh_terms: D064591:Allografts; D037282:Calreticulin / Q000235:genetics / Q000378:metabolism; D000080984:Congenital Bone Marrow Failure Syndromes; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D011884:Radius / Q000378:metabolism / Q000473:pathology; D013921:Thrombocytopenia / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy
chemical_list: C576483:CALR protein, human; D037282:Calreticulin; D009363:Neoplasm Proteins