T-cell Lymphoblastic Lymphoma in a Patient With Chromosome 8q21.11 Microdeletion

Abstract

The chromosome 8q21.11 deletion syndrome is an extremely rare genetic condition characterized by facial dysmorphic features, Peters anomaly and impaired intellectual development. We report a case of a 2-year-old female with chromosome 8q21.11-q21.2 microdeletion complicated by T-cell lymphoblastic lymphoma. Whole genome single-nucleotide polymorphism microarray detected an interstitial deletion of 8q21.11 to q.21.2, including 16 genes. Autopsy findings revealed a T-cell lymphoblastic lymphoma presenting as an anterior mediastinal mass, encroaching upon the aortic arch, left subclavian artery, left carotid bifurcation and trachea. The genes that may contribute to a neoplastic process are identified (PKIA, IL7, TPD52, PAG1, and FABP5) and discussed in this article.