Retrospective Study of Patients With Severe Aplastic Anemia Who Developed High Risk Clonal Evolution With Chromosome 7 Abnormalities After Immunosuppressive Therapy

Overview

Background: Severe aplastic anemia (SAA) is a form of bone marrow failure. It usually results from a cytotoxic T cell attack on the marrow stem cell. Two treatments can be used for SAA. One is allogeneic hematopoietic stem cell transplant (HSCT). The other is immunosuppressive treatment (IST). In most cases, HSCT or IST works. But for some people, clonal evolution occurs after IST. One of the most common forms of clonal evolution is chromosome 7 abnormalities. These have a poor prognosis. HSCT can be used to treat them. Researchers do not know why clonal evolution happens. They want to look at data from past studies to learn more. Objective: To compare the data of people with SAA who developed chromosome 7 abnormalities between those who ultimately received HSCT versus those who received chemotherapy alone or supportive care. Eligibility: Adults and children with SAA who were enrolled on NHLBI protocol 12-H-0150, 06-H-0034, 03-H-0249, 03-H-0193, 00-H-0032, or 90-H-0146 Design: This study uses data from past studies. The participants in those studies have allowed their data to be used in future research. Researchers will review participants medical records. They will collect clinical data, such as notes, test results, and imaging scans. They will also collect the research data gathered as part of the original study. Researchers will enter the data into an in-house database. It is password protected. All data will be kept in secure network drives or in sites that comply with NIH security rules. Other studies may be added in the future.

Severe aplastic anemia (SAA) is a form of bone marrow failure in most cases is the result of a cytotoxic T cell attack on the marrow stem cell. It is effectively treated in most patients with either immunosuppressive treatment (IST) or allogeneic hematopoietic stem cell transplant (HSCT). However, after IST, 'clonal evolution' is a significant complication in about 15% of patients, presenting as either a new cytogenetic abnormality or morphological evidence of myeloid malignancy. In particular, the development of chromosome 7 abnormalities is considered high risk and is associated with poor prognosis. The optimal treatment of chromosome 7 abnormalities following SAA is not defined though HSCT is widely offered.