Date of Award

January 2021

Document Type

Thesis

Degree Name

Medical Doctor (MD)

Department

Medicine

First Advisor

Alexa J. Siddon

Second Advisor

Christopher A. Tormey

Abstract

The significance of positive immunoglobulin (IG) or T-cell receptor (TCR) gene rearrangement studies in the context of otherwise normal ancillary findings is unknown. The present study aimed to examine long-term hematologic outcomes of individuals with positive gene rearrangement studies with otherwise unremarkable blood or bone marrow studies in parallel. Data from patients who underwent IG or TCR gene rearrangement testing at the author’s affiliated Veterans Affairs (VA) Hospital 1/1/13-7/6/18 were extracted from medical records. Date of testing; specimen source; and morphologic, flow cytometric, immunohistochemical, and cytogenetic characterization of the tissue source were recorded. Gene rearrangement results were categorized as test positive/phenotype positive (T+/P+), test positive/phenotype negative (T+/P-), test negative/phenotype negative (T-/P-), or test negative/phenotype positive (T-/P+) based on comparison to other studies and/or final diagnosis. Patient records were reviewed for subsequent diagnosis of hematologic malignancy for patients with positive gene rearrangements but no other evidence for a disease process. A total of 136 patients with 203 gene rearrangement studies were analyzed. For TCR studies, there were 2 T+/P- and 1 T-/P+ results in 47 peripheral blood (PB) assays, as well as 7 T+/P- and 1 T-/P+ results in 54 bone marrow (BM) assays. Regarding IG studies, 3 T+/P- and 12 T-/P+ results in 99 BM studies were identified. None of the 12 patients with T+/P- TCR or IG gene rearrangement studies later developed a lymphoproliferative disorder. In conclusion, positive IG/TCR gene rearrangement studies in the context of otherwise negative BM or PB findings are not predictive of lymphoproliferative disorders.

Comments

This thesis is restricted to Yale network users only. This thesis is permanently embargoed from public release.

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