Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) represent typical myeloproliferative neoplasms (MPN), usually characterized by specific somatic driver mutations (JAK2 V617F, CALR and MPL). JAK2 46/1 haplotype and telomerase reverse transcriptase gene (TERT) rs2736100 A>C single nucleotide polymorphism (SNP) could represent a large fraction of the genetic predisposition seen in MPN. The rs10974944 C>G SNP, tagging the JAK2 46/1 haplotype, and the TERT rs2736100 A>C SNP were genotyped in 529 MPN patients with known JAK2 V617F, CALR and MPL status, and 433 controls. JAK2 46/1 haplotype strongly correlated to JAK2 V617F-positive MPN and, to a lesser extent, CALR-positive MPN. The TERT rs2736100 A>C SNP strongly correlated to all MPN, regardless of the phenotype (PV, ET or PMF) and major molecular subtype (JAK2 V617F- or CALR-positive). While both variants have a significant contribution, they have nuanced consequences, with JAK2 46/1 predisposing essentially to JAK2 V617F-positive MPN, and TERT rs2736100 A>C having a more general, non-specific effect on all MPN, regardless of phenotype or major molecular subtype.

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Gastrointestinal tract is the most common location for extralymphonodular lymphomas. The small intestine is affected only in 9% of the cases. Intestinal lymphoma may have single or multiple location. This paper describes a case of multiple location in the small intestine of a non-Hodgkin B-cell in a 53 years old patient, who was initially diagnosed with bilateral pneumonia with pleurisy with E. coli, steeper on the right side, but the persistence of symptoms as fever, malaise, despite appropriate treatment, required further investigation. The CT exam observed fluid collection in the hypogastrium around a digestive loop. The patient underwent surgery, the intraoperative foundings being: a large mesenteric tumor ~ 5 cm in diameter, a terminal ileal mesenteric tumor, a mesenteric tumor ~ 6 cm in diameter, omentum with nodular formations, a tumor ~ 3.3/2.5.1 cm in the abdominal wall, pseudotumoral appendix. Segmental enterectomy with entero-enterostomy, excision of mesenteric tumors, appendectomy and omentectomy were performed. Pathological diagnosis was non-Hodgkin marginal zone B-cell MALT type lymphoma of the small intestine with extension to the appendix, meso, omentum and abdominal wall. Postoperatively, the patient received chemotherapy for remission.

Our study provides evidence that variation in genes related to oxidative stress might modulate the risk of developing BCR-ABL negative myeloproliferative neoplasms.

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