| 1 | Influence of NUDT15 variants on hematological pictures of patients with inflammatory bowel disease treated with thiopurines显示文摘AIM The single nucleotide polymorphism(SNP) c.415C>T in exon 3 of NUDT15 affects thiopurine-induced leukopenia in Asian patients with Crohn's disease. Meanwhile, three additional genetic variants of NUDT15 were reported in patients with acute lymphoblastic leukemia. We evaluated the effects of these additional genetic variants of NUDT15 in patients with inflammatory bowel disease(IBD) treated with thiopurines.METHODS Ninety-six Japanese patients with IBD were enrolled. Genotyping for the NUDT15 and TPMT genes was performed using Custom Taq Man SNP genotyping assays or Sanger sequencing. The changes in white blood cell(WBC) count, mean corpuscular volume(MCV), platelet count, hemoglobin, CRP, amylase, albumin, AST, ALT, and ESR were evaluated.RESULTS Genetic variants of exon 1 and exon 3 of NUDT15 were identified in 24 of 96 patients(25.0%). C.52G > A and c.36_37 insG GAGTC in exon 1 were found in three patients each. All three patients with c.36_37 insG GAGTC in exon 1 were heterozygotes of p.Arg139 Cys in exon 3. Eighteen patients had p.Arg139 Cys in exon 3 alone. The WBC count gradually decreased after initiation of thiopurine treatment in the mutated cases(n = 24), and was significantly lower at 6, 8, 10, and 16 wk(P = 0.0271, 0.0037, 0.0051, and 0.0185, respectively). The WBC counts were also evaluated in patients with and without prednisolone treatment. In the patients with prednisolone treatment, the WBC count tended to show a greater decrease in the mutated cases, with significant differences at 8 and 10 wk(P = 0.012 and 0.029, respectively). In the patients without prednisolone treatment, the WBC count was significantly lower at 2, 4, 8, and 14 wk in mutated cases(P = 0.0196, 0.0182, 0.0237 and 0.0241, respectively). MCV increased after starting thiopurine treatment in the mutated cases, and was significantly higher at 10 wk(P = 0.0085). Platelet count, hemoglobin, CRP, amylase, albumin, AST, ALT and ESR did not differ significantly between the wildtype and mutated cases. TPMT mutations were not found in any of the patients.CONCLUSION Mutations in exon 1 of NUDT15 also affect thiopurineinduced leukopenia in patients with IBD. To discuss thiopurine-induced leukopenia in more detail, investigation of SNPs in both exon 1 and exon 3 of NUDT15 is needed. | Yuichiro Kojima Yosuke Hirotsu Wataru Omata Makoto Sugimori Shinya Takaoka Hiroshi Ashizawa Keiko Nakagomi Dai Yoshimura Kenji Hosoda Yoji Suzuki Hitoshi Mochizuki Masao Omata | 2018 | World Journal of Gastroenterology2018，24，4： | 3 |
| 2 | Pancreatic cancer secondary to intraductal papillary mucinous neoplasm with collision between gastric cancer and B-cell lymphoma: A case report显示文摘BACKGROUND Patients with intraductal papillary mucinous neoplasm(IPMN)have an increased risk of pancreatic and extrapancreatic malignancies.Lymphomas are rare extrapancreatic malignancies,and in situ collisions of early gastric cancer and diffuse large B-cell lymphoma(DLBCL)are even rarer.Here,we report the first case of pancreatic cancer comorbid with in situ collision of extrapancreatic malignancies(early gastric cancer and DLBCL)in a follow-up IPMN patient.Furthermore,we have made innovations in the treatment of such cases.CASE SUMMARY An 81-year-old Japanese female diagnosed with IPMN developed elevated carbohydrate antigen(CA)19-9 levels during follow-up.Because her CA19-9 levels continued to rise,endoscopic ultrasound(EUS)was performed and revealed a suspicious lesion at the pancreatic tail.However,lesions in the pancreas were not found by computed tomography,magnetic resonance imaging,or endoscopic retrograde cholangiopancreatography.To make an exact pathological diagnosis,EUS-guided fine needle aspiration was performed.To our supprise,early gastric cancer was found in preoperative gastroscopy.The gastric cancer was completely resected through endoscopic submucosal dissection before postoperative pathology identified early adenocarcinoma collided with DLBCL.Subsequent EUS-guided fine needle aspiration provided pathological support forthe pancreatic cancer diagnosis, and then laparoscopic distal pancreatectomy andsplenectomy were performed. CA19-9 levels returned to normal postoperatively.CONCLUSION Endoscopic submucosal dissection is appropriate for submucosal lymphomas inpatients intoleratant of chemotherapy. EUS can detect small IPMN-relatedpancreatic tumors. | Yu-Hong Ma Tatsuya Yamaguchi Tomoki Yasumura Toru Kuno Shoji Kobayashi Takashi Yoshida Takeshi Ishida Yasuaki Ishida Shinya Takaoka Jiang-Lin Fan Nobuyuki Enomoto | 2021 | World Journal of Clinical Cases2021，9，10： | 0 |
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