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.
Copyright © 2017 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. All rights reserved.
MeSH terms
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Allografts
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Calreticulin* / genetics
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Calreticulin* / metabolism
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Congenital Bone Marrow Failure Syndromes
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Hematopoietic Stem Cell Transplantation*
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Humans
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Leukemia, Myeloid, Acute* / genetics
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Leukemia, Myeloid, Acute* / metabolism
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Leukemia, Myeloid, Acute* / pathology
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Leukemia, Myeloid, Acute* / therapy
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Male
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Middle Aged
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Mutation*
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Myelodysplastic Syndromes* / genetics
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Myelodysplastic Syndromes* / metabolism
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Myelodysplastic Syndromes* / pathology
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Myelodysplastic Syndromes* / therapy
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Neoplasm Proteins* / genetics
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Neoplasm Proteins* / metabolism
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Radius / metabolism
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Radius / pathology
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Thrombocytopenia* / genetics
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Thrombocytopenia* / metabolism
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Thrombocytopenia* / pathology
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Thrombocytopenia* / therapy
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Upper Extremity Deformities, Congenital* / genetics
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Upper Extremity Deformities, Congenital* / metabolism
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Upper Extremity Deformities, Congenital* / pathology
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Upper Extremity Deformities, Congenital* / therapy
Substances
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CALR protein, human
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Calreticulin
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Neoplasm Proteins
Supplementary concepts
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Absent radii and thrombocytopenia