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Spontaneous Clinical And Cytogenetic Remission Of Aplastic Anemia In A Patient With Del(13q)

Saitoh et al., 2002Other/Unknown

Saitoh, T., Saiki, M., Kumagai, T., Kura, Y., Sawada, U., & Horie, T. (2002). spontaneous clinical and cytogenetic remission of aplastic anemia in a patient with del(13q). Cancer genetics and cytogenetics, 136(2), 126–128. https://doi.org/10.1016/s0165-4608(02)00519-8

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Abstract

We describe the case of a 64-year-old Japanese man with pancytopenia. Bone marrow biopsy findings were consistent with aplastic anemia. The patient was treated by transfusions without immunosuppressive therapy. Chromosome analysis of bone marrow cells at 6 months after onset showed a 46,XY,del(13) (q14q22) karyotype. The pancytopenia resolved gradually over the next 5 years; chromosome analysis of bone marrow cells at that time yielded normal findings. To our knowledge, this is the first report of spontaneous hematologic and cytogenetic remission of aplastic anemia. These findings suggest that the abnormal clone with deletion of the long arm of chromosome 13 was not sufficient for clonal evolution in aplastic anemia in this case.

Case Details

Disease Location

Bone marrow

Personal Characteristics

64-year-old man. History of epilepsy. Previous treatment with phenytoin.

Clinical Characteristics

Dyspnea. Normal physical examination. Aplastic anemia diagnosed.

Remission Characteristics

After eight transfusion of packed red cells, he became transfusion independent without symptoms. Clinical remission was achieved five years after onset.

Treatment & Mechanisms

Proposed Remission Mechanisms

It is possible that remission of cytogenetic abnormalities in aplastic anemia is associated with increasing normal stem cell population.

Clinical Treatment

Phenytoin, transfusion of packed red blood cells without immunosuppressive treatment.