Aplastic anemia (AA) is a life-threatening bone marrow disorder caused by autoimmune destruction of hematopoietic stem cells and progenitor cells (HSPCs). This condition is currently an exclusionary diagnosis because there are no AA-specific diagnostic tests to distinguish it from other disorders, including hereditary bone marrow failure syndrome (IBMFS), which shares similar symptoms. However, the process of excluding other diagnoses can take weeks and delay treatment, highlighting the need for rapid and accurate diagnostic tests specific to the disorder.
Researchers at the Philadelphia Children’s Hospital (CHOP) have assumed that AA can be distinguished from IBMFS using three experimental results specific to the autoimmune etiology of AA: paroxysmal nocturnal hemoglobinuria (PNH) clones. , Heterozygous copy count neutral loss (6p CN-LOH) at chromosomal arm 6p, and clonal T cell receptor (TCR) gamma gene (TRG) rearrangement.
To test their hypothesis, the researchers analyzed laboratory samples from 454 pediatric and adult patients with AA, IBMFS, and other blood disorders. They found that PNH containing the HLA gene and acquired 6p CN-LOH clones had 100% positive predictions for AA and could facilitate diagnosis in about half of AA patients. Conversely, they found that the clone TRG rearrangement was not AA-specific.
“Our analysis shows that PNH and 6p CN-LOH clones effectively distinguish between AA and IBMFS, and both measurements need to be incorporated early in the diagnostic assessment of suspicious AA.” Senior Research Authors Daria V. Babushok, MD, Ph.D. Says. Physician-scientist at the Children’s Hospital of Philadelphia and the Center for Comprehensive Bone Marrow Failure at the University of Pennsylvania. “The next frontier of BMF diagnosis is the combination of these two assays with more sophisticated T-cell analysis and faster, more comprehensive somatic and germline genetic studies, acquired and hereditary. Includes improving the accuracy and efficiency of diagnosing BMF disorders. ”
Yash B. Shah et al, PNH clone for diagnosis of aplastic anemia, 6p CN-LOH, and predicted value of cloned TCR gene rearrangement, Blood Advance (2021). DOI: 10.1182 / bloodadvances.2021004201
Philadelphia Children’s Hospital
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Researchers Develop Methods to More Effectively Diagnose Aplastic Anemia
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