ABSTRACT
Cutaneous Tcell lymphoma (CTCL) is difficult to diagnose at an early stage. Current diagnostic tools include clinical examination, histomorphologic analysis, immunohistochemistry, flow cytometry of peripheral blood and/or lesional tissue, and evaluation of Tcell receptor (TCR) clonality by gene rearrangement analysis (TCRGR). Advances in genomic sequencing, including highthroughput sequencing (HTS), can be used to identify specific clones of rearranged TCR genes. Even with all of these tools, CTCL can take as long as a decade to definitively diagnose, potentially delaying treatment options and causing patient anxiety. This study aimed to evaluate the performance of the various ancillary testing modalities used to diagnose earlystage CTCL. In a subset of patients the performance of HTS was compared to flow cytometry and conventional TCRGR analysis via polymerase chain reaction (PCR). Fiftyfive patients, with a total of 68 skin biopsies and peripheral blood draws, were evaluated using flow cytometry, PCRTCRGR, and HTSTCRGR to determine the sensitivity and specificity of each ancillary test. In tissue biopsies, flow cytometry (64%), PCR (71%) and HTS (69%) shared similar sensitivities; flow cytometry had the highest specificity (93%), followed by HTS (86%) and PCR (76.9%). However, flow cytometry and PCR had insufficient DNA quantities in 29 and 15% of the specimens, respectively. Peripheral blood testing was less sensitive than tissue testing (flow cytometry 14%, PCR 41%, HTS 33%); in peripheral blood, HTS was the most specific test (flow cytometry, 70%; PCR, 62.5%; and HTS, 100%). HTS is a highly specific molecular test for identifying CTCL in peripheral blood and skin biopsy specimens; however, our findings suggest a need for a continued search for more sensitive tests for earlystage CTCL.
Subject(s)
Early Detection of Cancer/methods , Lymphoma, T-Cell, Cutaneous/diagnosis , Skin Neoplasms/diagnosis , Adult , Aged , Aged, 80 and over , Biopsy , Diagnosis, Differential , Feasibility Studies , Female , Flow Cytometry , Gene Rearrangement , High-Throughput Nucleotide Sequencing , Humans , Lymphoma, T-Cell, Cutaneous/blood , Lymphoma, T-Cell, Cutaneous/genetics , Lymphoma, T-Cell, Cutaneous/pathology , Male , Middle Aged , Polymerase Chain Reaction , Sensitivity and Specificity , Skin/pathology , Skin Neoplasms/blood , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Young AdultABSTRACT
Extramedullary plasmacytomas, Epstein-Bar virus (EBV) associated, are rarely encountered and usually have a fairly good clinical outcome. EBV+ plasmacytoma may cause a diagnostic dilemma as it phenotypically resembles an aggressive plasmablastic lymphoma (PBL). Herein, we report a unique case with maxillary EBV+ plasmacytoma from a 76-year-old immunocompetent individual.