Retrospective Study of Optimal Methods of Disease Detection in Children and Young Adults With Acute Lymphoblastic Leukemia in the Pediatric Oncology Branch

Minimal residual disease detection in the bone marrow is highly prognostic for disease relapse in patients with acute lymphoblastic leukemia (ALL) and is determined based on a single bone marrow aspirate sample. Our anecdotal experience over the past decade in the Pediatric Oncology Branch (POB) has led us to believe that a bone marrow aspirate as the only metric for disease detection may not be adequate, but a systematic review detailing our experience and reporting on instances where we have identified discrepancies in disease status has not been performed to confirm our hypothesis. Additionally, patients with ALL also may have CNS involvement by disease. Current standard of care assessment of disease in the central nervous system (CNS) consists of cerebrospinal (CSF) fluid sampling and evaluation for blasts by cytology only, which may not identify occult levels of CNS disease.

Flow cytometry-based CSF testing is highly dependent on the media used for CNS specimens and the expertise of the center performing these studies. NCI Flow cytometry has established expertise in CNS disease evaluation. In evaluation of patients with ALL for POB treatment protocols, we have observed cases where there is a discrepancy between cytopathology and flow cytometry results. Recent literature in ALL indicates that subclinical CNS disease may be relevant to patient outcomes. With a primary goal of identifying the optimal methods for disease detection in ALL, this protocol is a retrospective chart review of bone marrow evaluations and cerebrospinal fluid results in patients with ALL or lymphoblastic lymphoma (LBL) who underwent treatment or evaluation in the Pediatric Oncology Branch of the National Cancer Institute. This study will not involve the use of specimens or participant contact. All data that is needed has already been collected and is available in CRIS records. Data will only be collected on patients with ALL or LBL where routine PET scans to follow EM disease, bone marrow and/or CSF evaluations were done as standard of care or on study and will largely be from trials where Dr. Nirali Shah is or has served as the PI (e.g., 12-C-0112, 15-C-0029.)