Abstract
Indolent T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract are uncommon clonal neoplasms that have a protracted clinical course and limited response to therapy. In recent years, advances in the immunophenotypic, genetic, and clinical characterization of these disorders have led to increased awareness and a better understanding of disease pathogenesis. However, many questions remain unanswered, including those concerning the cell(s) of origin, inciting immune or environmental factors, and the molecular pathways underlying disease progression and transformation. In this review, we discuss recent findings regarding the immunophenotypic and genomic spectrum of these lymphoproliferative disorders and highlight unresolved issues.
Highlights
Accumulating evidence over the past two decades has led to the recognition of rare indolent T- and natural killer (NK)-cell lymphoproliferative disorders (LPDs) occurring in the gastrointestinal (GI) tract and rarely other organs that have unique clinical, morphologic, immunophenotypic, and genetic features
It is presently unclear whether T-bet+ /GATA3+ ITLPD-GI derive from bifunctional Th1/2 cells that develop directly from naïve T-cells in certain immune/inflammatory conditions [51] or committed Th subsets, which have been reprogrammed to adopt a mixed Th1/Th2 phenotype [52]
While targeted genomic profiling studies have identified recurrent alterations in many cases of ITLPD-GI and NKCE, unbiased whole exome or genome sequencing analyses are required to delineate the genetic landscape of these diseases and decipher their clonal architecture
Summary
Accumulating evidence over the past two decades has led to the recognition of rare indolent T- and NK-cell lymphoproliferative disorders (LPDs) occurring in the gastrointestinal (GI) tract and rarely other organs that have unique clinical, morphologic, immunophenotypic, and genetic features. LPDs have been reported, as isolated case reports or small series [34–46], further refining the clinical, morphologic, and immunophenotypic features of these diseases, which are currently considered to represent a single entity, referred to as NKCE in this manuscript. NK/T-cell lymphomas, i.e., angioinvasion/angiodestruction and EBV infection [31–46] Until recently, it wasn’t clear whether NKCE represented reactive or neoplastic proliferations, in part due to the challenges associated with demonstrating clonality of NK-cells; a recent study identified recurrent mutations in a small number of cases [46], supporting the neoplastic character of at least some if not all cases of NKCE. Indolent T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract (ITLPD-GI)
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