appendiceal mucinous neoplasm

阑尾黏液性肿瘤
  • 文章类型: Case Reports
    分泌粘蛋白的阑尾腺癌是非常罕见的,生长缓慢,阑尾产生粘蛋白的上皮性肿瘤。通常在阑尾切除术标本中偶然发现,大多数患者表现为急性阑尾炎,或者当原发性肿瘤破裂时,粘蛋白与整个腹膜腔中的肿瘤细胞一起扩散。在这里,我们描述了阑尾中低度(高分化)粘蛋白分泌腺癌的病例。一名48岁的女性出现腹胀的投诉,没有其他发烧的投诉,疼痛,或者呼吸困难.癌胚抗原水平为44.8ng/mL。行双侧卵巢细胞减灭术。最终的组织病理学诊断报告为在pT4bpNxpM1c分期的低级别(高分化)分泌粘蛋白的阑尾腺癌。腹膜假粘液瘤是一种非常令人恐惧的并发症,有时,唯一的症状是由于粘蛋白分泌细胞的扩散而在腹腔内积聚粘蛋白,这反过来导致腹围增加以及患者的不适。治疗的主要方法仍然是细胞减灭术以及腹腔热化疗。
    Mucin-secreting adenocarcinoma of the appendix is a very rare, slow-growing, mucin-producing epithelial neoplasm of the appendix. It is usually found accidentally in an appendicectomy specimen with the presentation of acute appendicitis in most patients or when there is a rupture of the primary tumor with the mucin spreading along with the tumor cells in the entire peritoneal cavity. Here we describe a case of low-grade (well-differentiated) mucin-secreting adenocarcinoma in the appendix. A 48-year-old female presented with complaints of abdominal distension with no other complaints of fever, pain, or breathlessness. Carcinoembryonic antigen levels were 44.8 ng/mL. Cytoreduction surgery of bilateral ovaries was done. The final histopathological diagnosis was reported as low-grade (well-differentiated) mucin-secreting adenocarcinoma of the appendix staged at pT4b pNx pM1c. Pseudomyxoma peritonei is a very feared complication and also, at times, the only presenting symptom where there is an accumulation of mucin in the intra-abdominal cavity due to the spread of mucin-secreting cells, which in turn causes an increase in the abdominal girth along with discomfort for the patient. The mainstay of treatment remains cytoreductive surgery along with hyperthermic intraperitoneal chemotherapy.
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  • 文章类型: Journal Article
    高度阑尾黏液性肿瘤(HAMN)最近已作为独立实体与阑尾腺癌分离,并归类为阑尾黏液性肿瘤。这些肿瘤表现出独特的组织学特征,包括与低级别阑尾黏液性肿瘤相似但具有高级别细胞学的结构和阑尾壁改变,没有渗透入侵。在某些情况下,明显的粘液性特征并不明显,因为高级肿瘤上皮可能显示胞浆内粘蛋白减少。偶尔,上皮瘤细胞呈花状增生和管状绒毛状构型,可误诊为阑尾管状绒毛状腺瘤。我们报告了一例67岁的女性阑尾扩张和腔粘蛋白。她接受了回肠切除术。在组织学上发现阑尾病变为HAMN,与阑尾管状绒毛状腺瘤非常相似。通过免疫化学,肿瘤细胞表现出野生型p53表达和错配修复能力。分子检测显示有1个KRAS突变,2个PIK3CA突变,和1个BRCA2,EP300,TGFBR2,CHD4,CREBBP,FANCC,PKHD1在肿瘤中各发生突变。患者随访1年,无疾病迹象。
    High-grade appendiceal mucinous neoplasm (HAMN) has been separated from appendiceal adenocarcinoma recently as an independent entity and categorized into appendiceal mucinous neoplasms. These neoplasms demonstrate distinct histological characteristics, including architectures and appendiceal mural changes similar to low-grade appendiceal mucinous neoplasm but with high-grade cytology, and no infiltrative invasion. Overt mucinous feature are not evident in some cases as the high-grade neoplastic epithelium may show intracytoplasmic mucin reduction. Occasionally, the neoplastic epithelial cells show florid proliferation and tubulovillous configuration and may be misdiagnosed as appendiceal tubulovillous adenoma. We report the case of a 67-year-old woman with appendicular dilatation and luminal mucin. She underwent an ileocecoectomy. The appendiceal lesion was found histologically to be a HAMN, which closely resembled appendiceal tubulovillous adenoma. The tumor cells demonstrated wild-type p53 expression and mismatch repair proficiency by immunochemistry. Molecular testing showed 1 KRAS mutation, 2 PIK3CA mutations, and 1 BRCA2, EP300, TGFBR2, CHD4, CREBBP, FANCC, PKHD1 mutation each in the tumor. The patient was followed up for 1 year with no evidence of disease.
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  • 文章类型: Case Reports
    阑尾黏液性肿瘤很少见,很容易误诊为附件肿块。在需要进行涉及卵巢的细胞减灭术的情况下,以及是否考虑进行腹膜内高温化疗的情况下,生育力是一个问题。我们介绍了一名35岁的原发性不孕症患者的病例,该患者在超声检查和磁共振成像(MRI)中被怀疑有积水,但在腹腔镜检查中被发现有阑尾粘液性肿瘤。为该患者提供了生育力保护。在生殖年龄存在附件肿块的患者的鉴别诊断中应考虑阑尾粘液性肿瘤。保留生育力应该与这些患者讨论,尤其是计划进行性腺毒性治疗时。
    Appendiceal mucinous neoplasms are rare and can be easily misdiagnosed as adnexal masses. Fertility is a concern in cases requiring cytoreductive surgery involving the ovaries and if hyperthermic intraperitoneal chemotherapy is considered. We present the case of a 35-year-old patient with primary infertility who was suspected to have a hematosalpinx on ultrasonography and magnetic resonance imaging (MRI) but was found to have an appendiceal mucinous neoplasm on laparoscopy. Fertility preservation was offered to this patient. Appendiceal mucinous neoplasms should be considered in the differential diagnosis of patients in their reproductive years presenting with adnexal masses. Fertility preservation should be discussed with these patients, especially when gonadotoxic treatments are planned.
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  • 文章类型: Journal Article
    世界卫生组织(WHO)第5版消化系统肿瘤分类区分了阑尾肿瘤(AT)的四类:锯齿状病变和息肉,粘液性肿瘤,腺癌,和神经内分泌肿瘤(NENs)。ATs的鉴别诊断在医学实践中可能具有挑战性,由于它们的稀有性和缺乏来自大型随机对照试验的数据,不同的患者群体。由于临床急性阑尾炎,通常在阑尾切除术期间获得的标本中注意到AT。在欧洲人口中,大多数AT(65%)发生在50岁以上和女性中(56.8%)。根据组织学类型,54.6%是神经内分泌肿瘤(NETs);26.8%是囊性肿瘤,粘液,和浆液性肿瘤;18.6%的腺癌未另作说明(NOS)。关于病理分析,大多数AT表现为良性病变或不需要进一步治疗措施的小NENs.阑尾粘液性肿瘤(AMN)的存在可导致腹膜假性黏液瘤(PMP)。虽然腹部恶性肿瘤的多模式治疗在过去的几十年中已经发展,ATs的临床检查和治疗仍然是一个挑战.因此,这篇综述旨在描述诊断的可能性,基于分子的诊断,分期,处理过程中的差异,以及与房性心动过速相关的预后因素。
    The 5th edition of the World Health Organization (WHO) classification of tumors of the digestive system distinguishes four categories of appendiceal tumors (ATs): serrated lesions and polyps, mucinous neoplasms, adenocarcinomas, and neuroendocrine neoplasms (NENs). The differential diagnosis of ATs can be challenging in medical practice, due to their rarity and lack of data from randomized controlled trials on a large, diverse group of patients. ATs are usually noted in specimens obtained during appendectomies due to clinical acute appendicitis. In the European population, most ATs (65%) occur over the age of 50 and among women (56.8%). According to histological type, 54.6% are neuroendocrine tumors (NETs); 26.8% cystic, mucinous, and serous neoplasms; and 18.6% adenocarcinoma not otherwise specified (NOS). On pathologic analysis, most AT findings are benign lesions or small NENs that do not require further therapeutic measures. The presence of appendiceal mucinous neoplasm (AMN) can lead to pseudomyxoma peritonei (PMP). While the multimodal treatment for abdominal malignancies has evolved over the past several decades, the clinical workup and treatment of ATs remain a challenge. Therefore, this review aims to describe the diagnostic possibilities, molecular-based diagnosis, staging, differences in the treatment process, and prognostic factors associated with ATs.
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  • 文章类型: Case Reports
    低级别阑尾黏液性肿瘤(LAMN)是一种罕见的肿瘤,通常表现为急性阑尾炎的症状。一名33岁的绅士在拳击训练期间因腹部创伤而出现腹部饱胀和不适。磁共振成像(MRI)的研究,超声,结肠镜检查显示升结肠肠系膜有一个大的囊性病变,阑尾不清楚。恶性肿瘤无明显特征。腹腔镜检查显示,与淋巴结肿大的阑尾相连的坚固肿块,患者接受了根治性切除术和右半结肠切除术。组织病理学显示LAMN完全切除,无淋巴受累。创伤后腹腔内囊性病变构成了诊断挑战,肿瘤性病变不能单独用影像学排除,即使是良性的外表。仔细的手术切除和组织病理学诊断是排除恶性肿瘤的唯一确定方法。
    Low grade appendiceal mucinous neoplasm (LAMN) is a rare tumor presenting typically with symptoms of acute appendicitis. A 33-year-old gentleman presented with abdominal fullness and discomfort secondary to abdominal trauma obtained during boxing training. Investigations with magnetic resonance imaging (MRI), ultrasound, and colonoscopy revealed a large cystic lesion in the ascending colon mesentery with unclear continuation with the appendix. There were no obvious features of malignancy. Laparoscopy revealed a large, firm mass connected to the appendix with enlarged lymph nodes, and the patient underwent radical resection with a right hemicolectomy. Histopathology revealed complete excision of LAMN with no lymphatic involvement. Post traumatic intra-abdominal cystic lesions pose a diagnostic challenge, and neoplastic lesions cannot be ruled out with imaging alone, even with benign appearances. Careful surgical excision and histopathological diagnosis is the only definitive method of ruling-out malignancy.
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  • 文章类型: Journal Article
    腰背痛是全球残疾的主要原因。这也是世界许多地区活动受限和缺勤的主要原因,也是造成巨大经济负担的原因。下腰痛的最大百分比被归类为非特异性(即不归因于明确的病理)。而其他人可能涉及腰椎区域的特定病理或暗示非肌肉骨骼起源的病理。因此,评估模仿肌肉骨骼疾病的任何体征和症状至关重要。
    本病例报告描述了一名64岁的女性患者,该患者首次出现两周的腰痛,抱怨临床表现与以前的发作不同。患者的疼痛是自发开始的,位于腰椎区域的弥漫性区域。症状在一天内是恒定的,并且不随着运动而改变。根据检查结果,物理治疗师决定紧急转诊给患者的全科医生。
    超声检查和计算机断层扫描后,在腹部区域证实了一个8.5厘米的肿块。它是通过手术切除的,并对低级别阑尾黏液性肿瘤(LAMN)进行组织学诊断。
    物理治疗师的评估和决策过程是患者转诊的基础,因为怀疑病理不在实践范围内。这揭示了一种罕见的情况,which,根据现有文献,通常在附带成像发现的情况下或在呈现复杂和/或紧急临床图片时被诊断。
    UNASSIGNED: Low back pain is the leading cause of disability worldwide. It is also the main cause of the limitation of activities and absence from work in much of the world and a cause of great economic burden. The greatest percentage of low back pain is classified as nonspecific (i.e. not attributable to a defined pathology), while the others may concern specific pathologies of the lumbar region or suggest pathologies of non-musculoskeletal origin. Consequently, evaluating any signs and symptoms mimicking musculoskeletal conditions is crucial.
    UNASSIGNED: This case report describes a 64-year-old female patient who first presented to the physiotherapist with two weeks of low back pain, complaining of a different clinical presentation than the previous episodes. The patient\'s pain started spontaneously and was located in the lumbar region over a diffuse area. Symptoms were constant throughout the day and did not change with movement. Based on the examination findings, the physiotherapist decided to make an urgent referral to the patient\'s General Practitioner.
    UNASSIGNED: Following ultrasound examination and Computed Tomography scan, an 8.5 cm mass was confirmed in the abdominal region. It was surgically removed, and a histological diagnosis of Low-grade Appendiceal Mucinous Neoplasm (LAMN) was made.
    UNASSIGNED: The physiotherapist\'s evaluation and decision-making process was fundamental in the patient\'s referral due to suspected pathology not within the scope of practice. This revealed a rare condition, which, according to the existing literature, is usually diagnosed in the event of collateral imaging findings or upon presentation of complex and/or emergency clinical pictures.
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  • 文章类型: Journal Article
    在炎症性肠病(IBD)患者中,阑尾黏液性肿瘤(AMN)的患病率和临床表现没有明确的证据,所以进行了系统的回顾来调查诊断,这些患者AMN的管理和治疗。PubMed,Medline,搜索了Scopus和Cochrane图书馆,以查找截至2023年9月发表的文章。23项研究报告了34例AMN患者的数据。UC患者的中位年龄为52岁,中位病程为10年;CD患者的中位年龄为40.5岁,中位病程为5年。44%的患者获得了术前诊断。大多数患者有症状(82.6%),并表现出中重度疾病活动性(61%)。进行了外科手术:腹腔镜阑尾切除术,回盲肠切除术,右半结肠切除术和结肠切除术/直肠切除术。在患者中,73.5%被诊断为低度黏液性肿瘤(LAMN),9例被诊断为腺癌。23.5%的患者存在同步结直肠异型增生/癌。患有长期疾病的IBD患者应进行常规筛查,不仅适用于结直肠癌,也适用于AMN,在胃肠道随访期间。未破裂LAMN的腹腔镜阑尾切除术以及非转移性腺癌的右半结肠切除术是IBD患者的安全手术。
    There is no clear evidence on the prevalence and clinical presentation of appendiceal mucinous neoplasm (AMN) among patients with inflammatory bowel disease (IBD), so a systematic review was performed to investigate the diagnosis, management and treatment of AMN in these patients. PubMed, Medline, Scopus and the Cochrane Library were searched for articles published up to September 2023. Twenty-three studies reporting data about 34 AMN patients were included. UC patients had a median age of 52 years and a median length of disease of 10 years; CD patients had a median age of 40.5 years and a median length of disease of 5 years. A pre-operative diagnosis was achieved in 44% of patients. Most patients were symptomatic (82.6%) and showed moderate-severe disease activity (61%). Surgical procedures were performed: laparoscopic appendectomy, ileocecal resection, right hemicolectomy and colectomy/proctocolectomy. Of the patients, 73.5% were diagnosed with low-grade mucinous neoplasm (LAMN) and nine with adenocarcinoma. Synchronous colorectal dysplasia/carcinoma was present in 23.5% of patients. IBD patients with long-standing disease should be routinely screened, not only for colorectal cancer but also for AMN, during gastro-enterologic follow-up. Laparoscopic appendectomy of unruptured LAMN as well as right hemicolectomy of non-metastatic adenocarcinoma are safe procedures in IBD patients.
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  • 文章类型: Journal Article
    背景:阑尾黏液性肿瘤的术前诊断具有挑战性,关于这些肿瘤的腔内超声特征的报道很少。
    目的:通过弯曲的线性阵列回波内窥镜,使用内窥镜超声(EUS)对阑尾黏液性肿瘤的影像学特征进行回顾性评估。
    方法:回顾性分析2018年1月至2023年7月在我院接受EUS检查的所有阑尾黏液性肿瘤患者的数据库。回顾了EUS特征和患者的临床资料。
    结果:22例患者被纳入研究。线性阵列回波内窥镜成功到达每位患者的回盲区。在内窥镜视图中,我们可以观察到所有患者的阑尾口突出。在两名患者中观察到火山迹象,在两名患者中发现了非典型的火山迹象。EUS显示所有22个病变均为粘膜下囊性低回声病变,边界清晰。未观察到壁结节,但是在17例中观察到洋葱剥落的迹象。
    结论:线性阵列回波内窥镜在EUS引导下可安全到达回盲区。内窥镜和回声内窥镜视图上的图像特征可用于诊断阑尾粘液性肿瘤。
    BACKGROUND: Preoperative diagnosis of appendiceal mucinous neoplasms is challenging, and there are few reports regarding the endosonographic characteristics of these neoplasms.
    OBJECTIVE: To provide a retrospective assessment of the imaging features of appendiceal mucinous neoplasms using endoscopic ultrasound (EUS) by curved linear-array echoendoscope.
    METHODS: A database of all patients with appendiceal mucinous neoplasms who had received EUS examination at our hospital between January 2018 and July 2023 was retrospectively analyzed. The EUS characteristics and patients\' clinical data were reviewed.
    RESULTS: Twenty-two patients were included in the study. The linear-array echoendoscope successfully reached the ileocecal region in every patient. In the endoscopic view, we could observe the protrusion in the appendiceal orifice in all patients. A volcano sign was observed in two patients, and an atypical volcano sign was seen in two patients. EUS showed that all 22 lesions were submucosal cystic hypoechoic lesions with clear boundaries. No wall nodules were observed, but an onion-peeling sign was observed in 17 cases.
    CONCLUSIONS: Linear-array echoendoscope is safe to reach the ileocecal region under the guidance of EUS. Image features on endoscopic and echoendosonograhic views could be used to diagnose appendiceal mucinous neoplasms.
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  • 文章类型: Case Reports
    粘液性肿瘤是在上皮组织中产生的肿瘤,以分泌过多的粘蛋白为特征。它们主要出现在消化系统中,很少出现在泌尿系统中。它们也很少在肾盂和阑尾中异步或同时发展。尚未报道在这两个地区同时发生这种疾病。在这个案例报告中,我们讨论了右肾盂和阑尾的同步粘液性肿瘤的诊断和治疗。肾盂黏液性肿瘤术前误诊为肾结石引起的脓肾,患者接受了腹腔镜肾切除术。在这里,我们结合相关文献总结了我们对这一罕见病例的经验。
    在这种情况下,一名64岁的女性因右下背部持续疼痛而入院。计算机断层扫描尿路造影(CTU)显示患者被证实为右肾结石伴巨大肾积水或肾积脓,阑尾黏液性肿瘤(AMN)。随后,患者被转移到胃肠外科。同时,电子结肠镜活检提示AMN。在获得知情同意后进行开腹阑尾切除术加腹部探查。术后病理提示低级别AMN(LAMN),阑尾切缘阴性。病人重新入住泌尿科,因临床症状不明显误诊为右肾结石和肾积脓,接受了腹腔镜右肾切除术,凝胶状材料的标准检查,和成像发现。术后病理提示肾盂高度粘液性肿瘤,部分粘蛋白位于囊肿壁的间质中。随访14个月,取得良好的效果。
    肾盂和阑尾的同步性粘液性肿瘤确实不常见,尚未有报道。原发性肾黏液腺癌非常罕见,应该首先考虑其他器官的转移,尤其是长期慢性炎症患者,肾积水,脓肾,和肾结石,否则,可能出现误诊和延误治疗。因此,对于患有罕见疾病的患者,严格遵守治疗原则和密切随访是取得良好结果的必要条件。
    UNASSIGNED: Mucinous neoplasms are tumors arising in the epithelial tissue, characterized by excessive mucin secretion. They mainly emerge in the digestive system and rarely in the urinary system. They also seldom develop in the renal pelvis and the appendix asynchronously or simultaneously. The concurrence of this disease in these two regions has not yet been reported. In this case report, we discuss the diagnosis and treatment of synchronous mucinous neoplasms of the right renal pelvis and the appendix. The mucinous neoplasm of the renal pelvis was preoperatively misdiagnosed as pyonephrosis caused by renal stones, and the patient underwent laparoscopic nephrectomy. Herein, we summarize our experience with this rare case in combination with related literature.
    UNASSIGNED: In this case, A 64-year-old female was admitted to our hospital with persistent pain in the right lower back for over a year. Computer tomography urography (CTU) showed that the patient was confirmed as right kidney stone with large hydronephrosis or pyonephrosis, and appendiceal mucinous neoplasm (AMN). Subsequently, the patient was transferred to the gastrointestinal surgery department. Simultaneously, electronic colonoscopy with biopsy suggested AMN. Open appendectomy plus abdominal exploration was performed after obtaining informed consent. Postoperative pathology indicated low-grade AMN (LAMN) and the incisal margin of the appendix was negative. The patient was re-admitted to the urology department, and underwent laparoscopic right nephrectomy because she was misdiagnosed with calculi and pyonephrosis of the right kidney according to the indistinctive clinical symptoms, standard examination of the gelatinous material, and imaging findings. Postoperative pathology suggested a high-grade mucinous neoplasm of the renal pelvis and mucin residing partly in the interstitium of the cyst walls. Good follow-up results were obtained for 14 months.
    UNASSIGNED: Synchronous mucinous neoplasms of the renal pelvis and the appendix are indeed uncommon and have not yet been reported. Primary renal mucinous adenocarcinoma is very rare, metastasis from other organs should be first considered, especially in patients with long-term chronic inflammation, hydronephrosis, pyonephrosis, and renal stones, otherwise, misdiagnosis and treatment delay may occur. Hence, for patients with rare diseases, strict adherence to treatment principles and close follow-up are necessary to achieve favorable outcomes.
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  • 文章类型: Case Reports
    肠套叠在成人中是一种罕见的表现,描述了当肠道的一部分收缩到另一部分时。肠套叠与恶性肿瘤相关,在成人中占主导地位。阑尾粘液性肿瘤是罕见的肿瘤,通常在阑尾切除术过程中偶然发现以治疗急性阑尾炎。在这里,我们提出了一例阑尾粘液性腺癌的病例报告,表现为大肠肠梗阻,肠套叠局限于结肠,强调并发肠套叠和粘液性肿瘤的可能性。该案例突出了细致的诊断评估和管理的重要性,特别是没有明确的治疗方案。适当的诊断检查和管理,包括手术干预,对患者预后和总体预后至关重要。该研究建议被诊断为确诊或疑似阑尾肿瘤的患者接受前期肿瘤切除术,其中侵袭性恶性肿瘤是一个问题。所有患者术后均应进行结肠镜检查,以确定同步病变。
    Intussusception is a rare presentation in adults and describes when one portion of the intestine telescopes into another portion. Intussusception is associated with malignancies serving as the lead point in adults. Appendiceal mucinous neoplasms are uncommon tumors often incidentally discovered during appendectomy procedures to manage acute appendicitis. Here we present a case report of an instance of mucinous adenocarcinoma of the appendix that manifested as a large bowel obstruction with intussusception limited to the colon, underscoring the possibility of concurrent intussusception and mucinous neoplasms. The case highlights the importance of meticulous diagnostic evaluation and management, particularly without well-defined treatment protocols. Appropriate diagnostic workup and management, including surgical intervention, are critical for patient outcomes and overall prognosis. The study recommends that patients diagnosed with confirmed or suspected appendiceal neoplasms undergo upfront oncologic resection where aggressive malignancy is a concern. Colonoscopy should be performed postoperatively for all patients to identify synchronous lesions.
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