Recent advances in upper gastrointestinal lymphomas: molecular updates and diagnostic implications

Abstract

Approximately one‐third of extranodal non‐Hodgkin lymphomas involve the gastrointestinal (GI) tract, with the vast majority being diagnosed in the stomach, duodenum, or proximal small intestine. A few entities, especially diffuse large B‐cell lymphoma and extranodal marginal zone lymphoma of mucosa‐associated lymphoid tissue, represent the majority of cases. In addition, there are diseases specific to or characteristic of the GI tract, and any type of systemic lymphoma can present in or disseminate to these organs. The recent advances in the genetic and molecular characterisation of lymphoid neoplasms have translated into notable changes in the classification of primary GI T‐cell neoplasms and the recommended diagnostic approach to aggressive B‐cell tumours. In many instances, diagnoses rely on morphology and immunophenotype, but there is an increasing need to incorporate molecular genetic markers. Moreover, it is also important to take into consideration the endoscopic and clinical presentations. This review gives an update on the most recent developments in the pathology and molecular pathology of upper GI lymphoproliferative diseases.

Primary Gastrointestinal Follicular Lymphomas: A Prospective Study of 31 Patients with Long-term Follow-up Registered in the French Gastrointestinal Lymphoma Study Group (GELD) of the French Federation of Digestive Oncology (FFCD)

“…Unfortunately, we do not have information about the molecular profile of these tumors, which may be an interesting tool in the future to predict aggressive outcome of the disease. 34 However, our data suggest, that independently of the disease stage at diagnosis, patients with symptoms and a large tumor mass should be given particular attention since they present a higher risk of transformation into a high-grade lymphoma.…”

Rare primary rectal mucosa-associated lymphoid tissue lymphoma with curative resection by endoscopic submucosal dissection: A case report and review of literature

“…In many instances, diagnoses rely on morphology and immunophenotype, but there is an increasing need to incorporate molecular genetic markers. It is also important to take into consideration the endoscopic and clinical presentations[ 19 ]. Endoscopic findings are nonspecific, ranging from a single polypoid lesion to a subepithelial tumour type, an epithelial mass type, and an ileitis type[ 14 ].…”

Possible relationship between refractory celiac disease and malignancies

“…Approximately 50% of RCeD-2 patients are thought to develop overt lymphoma within 5 years of diagnosis[ 18 ]. EATL occurs predominantly in patients in the sixth and seventh decades, and usually develops in those diagnosed with CeD[ 25 , 32 , 33 ]. EATL is thought to be derived from IELs, and the abnormal immune phenotype of IELs seen in RCeD-2 indicates early-stage lymphoma development.…”

“…A microscopic examination of type I EATL (EATL-1) reveals transmural infiltration including pleomorphic medium- to large-size neoplastic lymphocytes, histiocytes and eosinophils. Mitotic figures and necrosis are common, and enteropathic changes such as villous atrophy, crypt hyperplasia and intraepithelial lymphocytosis may be seen in the non-tumor gastrointestinal tract mucosa[ 25 , 33 ]. Tumor cells in EATL-1 have a pattern of CD2+, CD3+, CD5-, CD4-, CD7+, CD8-, CD56-, TCR- (usually), CD103+ and CD30+ (often), and a high Ki-67 proliferative index and p53 expression.…”

“…Tumor cells in EATL-1 have a pattern of CD2+, CD3+, CD5-, CD4-, CD7+, CD8-, CD56-, TCR- (usually), CD103+ and CD30+ (often), and a high Ki-67 proliferative index and p53 expression. Epstein-Barr virus is negative[ 33 ]. In some cases, tumor cells may show pronounced pleomorphism reminiscent of anaplastic large cell lymphoma or Hodgkin lymphoma[ 23 ].…”