Mast cells (MC) are pivotal elements in several physiological and immunological functions of the gastro- intestinal (GI) tract. MC translate the stress signals that has been transmitted through brain gut axis into rel...Mast cells (MC) are pivotal elements in several physiological and immunological functions of the gastro- intestinal (GI) tract. MC translate the stress signals that has been transmitted through brain gut axis into release of proinflammatory mediators that can cause stimulation of nerve endings that could affect afferent nerve terminals and change their perception, affect intestinal motility, increase intestinal hyperpermeability and, in susceptible individuals, modulate the inflammation. Thus, it is not surprising that MC are an important element in the pathogenesis of inflammatory bowel disease and non inflammatory GI disorders such as IBS and mast cell enterocolitis.展开更多
Langerhans cell histiocytosis （LCH） is a group of idiopathic disorders characterized by the proliferation of specialized, bone marrow-derived langerhans cells and mature eosinophils. The clinical spectrum ranges fro...Langerhans cell histiocytosis （LCH） is a group of idiopathic disorders characterized by the proliferation of specialized, bone marrow-derived langerhans cells and mature eosinophils. The clinical spectrum ranges from an acute, fulminant, disseminated disease called Letterer Siwe disease to solitary or few, indolent and chronic lesions of the bone or other organs called eosinophilic granuloma. Involvement of the gastrointestinal tract is very rare in LCH. We present the case of a 53-year-old woman referred by her primary care physician for a screening colonoscopy. A single sessile polyp, measuring 4 mm in size, was found in the rectum. Histopathological examination revealed that the lesion was relatively well circumscribed and comprised mainly a mixture of polygonal cells with moderate-to-abundant pink slightly granular cytoplasm. The nuclei within these cells had frequent grooves and were occasionally folded. Immunohistochemical staining was positive for CD la which confirmed the diagnosis of LCH. On further workup, there was no evidence of involvement of any other organ. On follow up colonoscopy one year later, there was no evidence of disease recurrence. Review of the published literature revealed that LCH presenting as solitary colonic polyp is rare. However, with the increasing rates of screening colonoscopy, more colonic polyps may be identified as LCH on histopathology. This underscores the importance of recognizing this rare condition and ensuring proper follow-up to rule out systemic disease.展开更多
AIM： To study the association between inflammatory bowel disease （IBD） and genetic variations in eosinophil protein X （EPX） and eosinophil cationic protein （ECP）. METHODS： DNA was extracted from ethylene diami...AIM： To study the association between inflammatory bowel disease （IBD） and genetic variations in eosinophil protein X （EPX） and eosinophil cationic protein （ECP）. METHODS： DNA was extracted from ethylene diamine tetraacetic acid blood of 587 patients with Crohn＇s disease （CD）, 592 with ulcerative colitis （UC） and 300 healthy subjects. The EPX405 （G 〉 C, rs2013109）, ECP434 （G 〉 C, rs2073342） and ECP562 （G 〉 C, rs2233860） gene polymorphisms were analysed, by the 5＇-nuclease allelic discrimination assay. For de- termination of intracellular content of EPX and ECP in granulocytes, 39 blood samples was collected and extracted with a buffer containing cetyltrimethylam- monium bromide. The intracellular content of EPX was analysed using an enzyme-linked immunosorbent as- say. The intracellular content of ECP was analysed with the UniCAP system as described by the manufacturer. Statistical tests for calculations of results were χ2 test, Fisher＇s exact test, ANOVA, Student-Newman-Keuls test, and Kaplan-Meier survival curve with Log-rank test for trend, the probability values of P 〈 0.05 were considered statistically significant.RESULTS： The genotype frequency for males with UC and with an age of disease onset of ≥ 45 years （n = 57） was for ECP434 and ECP562, GG = 37%, GC = 60%, CC = 4% and GG = 51%, GC = 49%, CC = 0% respectively. This was significantly different from the healthy subject＇s genotype frequencies of ECP434 （GG = 57%, GC = 38%, CC = 5%; P = 0.010） and ECP562 （GG = 68%, GC = 29%,CC = 3%; P = 0.009）. The genotype frequencies for females, with an age of dis- ease onset of ≥ 45 years with CD （n = 62）, was for the ECP434 and ECP562 genotypes GG = 37%, GC =52%, CC = 11% and GG = 48%, GC = 47% and CC = 5% respectively. This was also statistically different from healthy controls for both ECP434 （P = 0.010） and ECP562 （P = 0.013）. The intracellular protein concen- tration of EPX and ECP was calculated in μg/10^6 eosi- nophils and then correlated to the EPX 405 genotypes. The protein content of EPX was highest in the patients with the CC genotype of EPX405 （GG = 4.65, GC = 5.93, and CC = 6.57） and for ECP in the patients with the GG genotype of EPX405 （GG = 2.70, GC = 2.47 and CC = 1.90）. ANOVA test demonstrated a difference in intracellular protein content for EPX （P = 0.009） and ECP （P = 0.022）. The age of disease onset was linked to haplotypes of the EPX405, ECP434 and ECP562 genotypes. Kaplan Maier curve showed a difference be- tween haplotype distributions for the females with CD （P = 0.003）. The highest age of disease onset was seen in females with the EPX405CC, ECP434GC, ECP562CC haplotype （34 years） and the lowest in females with the EPX405GC, ECP434GC, ECP562GG haplotype （21 years）. For males with UC there was also a difference between the highest and lowest age of the disease on- set （EPX405CC, ECP434CC, ECP562CC, mean 24 years vs EPX405GC, ECP434GC, ECP562GG, mean 34 years, P = 0.0009）. The relative risk for UC patients with ECP434 or ECP562-GC/CC genotypes to develop dys- plasia/cancer was 2.5 （95%CI： 1.2-5.4, P = 0.01） and 2.5 （95%CI： 1.1-5.4, P = 0.02） respectively, compared to patients carrying the GG-genotypes.展开更多
文摘目的 探讨单形性嗜上皮性肠道T细胞淋巴瘤(MEITL)的临床特点及分期、病理学表现,以期提高临床医生对该病的认识。方法 回顾性分析2020年1月至2022年1月浙江大学医学院附属第一医院血液科收治的7例MEITL患者。收集整理患者基本人口学资料、临床表现、病理学结果、EBER原位杂交及TCR基因重排等分子生物学检测。分析MEITL的临床、病理特征。结果 7例患者中男2例,女5例;年龄55~67岁,中位年龄64岁;病程1~6个月,中位数2个月;腹痛6例,1例腹泻合并低钾血症起病,无乳糜泻。发病部位小肠4例,十二指肠、空肠及结肠各1例。乳酸脱氢酶升高3例,轻度贫血2例。癌胚抗原均未见升高。糖类抗原125、糖类抗原19-9及血清铁蛋白异常升高2例。7例骨髓学检查均无侵犯。3例在手术前行PET-CT检查,见受累处18F-氟脱氧葡萄糖(FDG)明显摄取增高,SUVmax波动在15.20~18.46。Lugano分期Ⅱ-1期1例、Ⅲ期1例、Ⅳ期5例。T细胞淋巴瘤预后指标(PIT)2分1例、3分6例。2例为内镜活检、5例行外科手术病理证实。6例行外科肠肿物切除手术,其中3例因继发小肠肠穿孔或梗阻行急诊手术,3例加结肠病变部分切除,肿瘤直径5~10 cm 1例,>10 cm 2例。光镜下瘤细胞呈单一性、大小为小至中等。免疫表型:CD3阳性(7/7)、CD8阳性(7/7)、CD56阳性(6/7)、TIA-1阳性(5/7);CD5阴性(6/6)、CD30阴性(5/5);1例CD20反常阳性表达。Ki-67指数中位数为70%,7例EBER阴性,2例TCR基因重排阳性。行基因检测1例:KRAS、FAT1、KMT2A、KMT2B、SETD2基因高频突变。7例均行化疗,包括为CHOP、AZA+CHOP、ECHOP、GVD联合西达苯胺等方案;1例行自体干细胞移植。7例均得到随访(末次随访时间2022年1月),死亡4例,存活3例。结论 MEITL罕见,高度恶性,进展迅速,无特异的临床表现,病死率高,基因重排等分子生物学检测是重要手段。
文摘Mast cells (MC) are pivotal elements in several physiological and immunological functions of the gastro- intestinal (GI) tract. MC translate the stress signals that has been transmitted through brain gut axis into release of proinflammatory mediators that can cause stimulation of nerve endings that could affect afferent nerve terminals and change their perception, affect intestinal motility, increase intestinal hyperpermeability and, in susceptible individuals, modulate the inflammation. Thus, it is not surprising that MC are an important element in the pathogenesis of inflammatory bowel disease and non inflammatory GI disorders such as IBS and mast cell enterocolitis.
文摘Langerhans cell histiocytosis （LCH） is a group of idiopathic disorders characterized by the proliferation of specialized, bone marrow-derived langerhans cells and mature eosinophils. The clinical spectrum ranges from an acute, fulminant, disseminated disease called Letterer Siwe disease to solitary or few, indolent and chronic lesions of the bone or other organs called eosinophilic granuloma. Involvement of the gastrointestinal tract is very rare in LCH. We present the case of a 53-year-old woman referred by her primary care physician for a screening colonoscopy. A single sessile polyp, measuring 4 mm in size, was found in the rectum. Histopathological examination revealed that the lesion was relatively well circumscribed and comprised mainly a mixture of polygonal cells with moderate-to-abundant pink slightly granular cytoplasm. The nuclei within these cells had frequent grooves and were occasionally folded. Immunohistochemical staining was positive for CD la which confirmed the diagnosis of LCH. On further workup, there was no evidence of involvement of any other organ. On follow up colonoscopy one year later, there was no evidence of disease recurrence. Review of the published literature revealed that LCH presenting as solitary colonic polyp is rare. However, with the increasing rates of screening colonoscopy, more colonic polyps may be identified as LCH on histopathology. This underscores the importance of recognizing this rare condition and ensuring proper follow-up to rule out systemic disease.
基金Supported by Grants from the Swedish Research Council-Medicinethe Hedlunds Foundation and from the Medical Faculty,Uppsala University,Uppsala,Sweden
文摘AIM： To study the association between inflammatory bowel disease （IBD） and genetic variations in eosinophil protein X （EPX） and eosinophil cationic protein （ECP）. METHODS： DNA was extracted from ethylene diamine tetraacetic acid blood of 587 patients with Crohn＇s disease （CD）, 592 with ulcerative colitis （UC） and 300 healthy subjects. The EPX405 （G 〉 C, rs2013109）, ECP434 （G 〉 C, rs2073342） and ECP562 （G 〉 C, rs2233860） gene polymorphisms were analysed, by the 5＇-nuclease allelic discrimination assay. For de- termination of intracellular content of EPX and ECP in granulocytes, 39 blood samples was collected and extracted with a buffer containing cetyltrimethylam- monium bromide. The intracellular content of EPX was analysed using an enzyme-linked immunosorbent as- say. The intracellular content of ECP was analysed with the UniCAP system as described by the manufacturer. Statistical tests for calculations of results were χ2 test, Fisher＇s exact test, ANOVA, Student-Newman-Keuls test, and Kaplan-Meier survival curve with Log-rank test for trend, the probability values of P 〈 0.05 were considered statistically significant.RESULTS： The genotype frequency for males with UC and with an age of disease onset of ≥ 45 years （n = 57） was for ECP434 and ECP562, GG = 37%, GC = 60%, CC = 4% and GG = 51%, GC = 49%, CC = 0% respectively. This was significantly different from the healthy subject＇s genotype frequencies of ECP434 （GG = 57%, GC = 38%, CC = 5%; P = 0.010） and ECP562 （GG = 68%, GC = 29%,CC = 3%; P = 0.009）. The genotype frequencies for females, with an age of dis- ease onset of ≥ 45 years with CD （n = 62）, was for the ECP434 and ECP562 genotypes GG = 37%, GC =52%, CC = 11% and GG = 48%, GC = 47% and CC = 5% respectively. This was also statistically different from healthy controls for both ECP434 （P = 0.010） and ECP562 （P = 0.013）. The intracellular protein concen- tration of EPX and ECP was calculated in μg/10^6 eosi- nophils and then correlated to the EPX 405 genotypes. The protein content of EPX was highest in the patients with the CC genotype of EPX405 （GG = 4.65, GC = 5.93, and CC = 6.57） and for ECP in the patients with the GG genotype of EPX405 （GG = 2.70, GC = 2.47 and CC = 1.90）. ANOVA test demonstrated a difference in intracellular protein content for EPX （P = 0.009） and ECP （P = 0.022）. The age of disease onset was linked to haplotypes of the EPX405, ECP434 and ECP562 genotypes. Kaplan Maier curve showed a difference be- tween haplotype distributions for the females with CD （P = 0.003）. The highest age of disease onset was seen in females with the EPX405CC, ECP434GC, ECP562CC haplotype （34 years） and the lowest in females with the EPX405GC, ECP434GC, ECP562GG haplotype （21 years）. For males with UC there was also a difference between the highest and lowest age of the disease on- set （EPX405CC, ECP434CC, ECP562CC, mean 24 years vs EPX405GC, ECP434GC, ECP562GG, mean 34 years, P = 0.0009）. The relative risk for UC patients with ECP434 or ECP562-GC/CC genotypes to develop dys- plasia/cancer was 2.5 （95%CI： 1.2-5.4, P = 0.01） and 2.5 （95%CI： 1.1-5.4, P = 0.02） respectively, compared to patients carrying the GG-genotypes.
