Evaluation of diagnostic algorithm and therapeutic interventions for intra-abdominal desmoid tumors

Desmoid-type fibromatosis (DF) is a distinctly rare condition, mostly of younger adults, characterized by the development of locally aggressive tumors of mesenchymal origin. Desmoid tumors (DT) arise either sporadically or in association with FAP (familial adenomatous polyposis), although certain risk factors have also been identified, including pregnancy and antecedent surgical trauma. They can emerge from any connective tissue including muscle, fascia and aponeurosis and are therefore classified, according to location, as intra-abdominal, of the abdominal wall and extra-abdominal. Despite the lack of metastasizing potential, the course can be unpredictable. Various mutations of APC and β-catenin genes, among others, play a catalytic role in the pathogenesis of this neoplastic entity. Surgery has lost its traditional role as first line treatment of the disease and several other treatment methods are being considered. Cytotoxic chemotherapy, non-cytotoxic systemic therapy and targeted therapy have been revealed as part of different treatment regimens. Recent progress regarding DT biology and molecular pathways has led to the development of promising novel biological agents. In any case, a multidisciplinary approach is required and is gradually employed, espe-cially in intra-abdominal DTs. In this review, we aim to present current knowledge on DF and summarize current treatment regimens as well as their effectiveness, with emphasis on the intraperitoneal type of DT.     

Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships

BackgroundGastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.ObjectivesEvaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.MethodsCohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.ResultsEight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).ConclusionsAlthough currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.     

携带同源重组修复相关基因突变的消化道肿瘤的临床特点

目的:探讨消化道肿瘤中同源重组修复相关基因(homologous recombination repair related gene，HRR)突变的发生情况及临床意义。方法:共92例消化道肿瘤患者，79例患者进行了血液标本HRR检测，53例患者进行了组织标本HRR检测，40例患者同时行血液和组织的HRR基因检测，收集患者基因检测结果及临床相关资料。结果:在79例患者血液标本检测中发现10例（12.6%）有临床意义HRR突变，在53例患者组织标本检测中发现9例（17.0%）有临床意义HRR突变。40例同时行血液和组织的HRR基因检测患者中常见的有临床意义HRR突变为CDK12突变4例（10.0%）、ATM突变3例（7.5%）、BRCA1突变2例（5.0%）。13例有临床意义HRR突变患者中常见共存突变为TP53突变10例（76.9%）、APC突变5例（38.5%）、PIK3CA突变4例（30.8%）。40例患者中13例患者血液和/或组织中有临床意义HRR突变，27例患者血液和组织中均无任何临床意义HRR突变且两组相比，有临床意义HRR突变组肿瘤突变负荷（tumor mutational burden，TMB）为6.17(2.24～11.52)，而未携带HRR突变组TMB为0.4(0～3.75)，差异有统计学意义（P＜0.05）。40例患者组织检测中7例HRR有临床意义的突变，33例无HRR突变，血液检测中10例HRR有临床意义的突变，30例无HRR突变，一致性检验的Kappa值为0.333（P=0.031）。结论:携带有临床意义HRR突变的消化道肿瘤患者TMB更高，血液和组织检测HRR突变有较好的一致性。     

Pulmonary metastases in urogenital cancers: Surgical treatment and outcomes

IntroductionMetastasis is remaining one of the major problems in cancer treatment. Like many other malignancies, urogenital tumors originating from kidney, prostate, testes, and bladder tend to metastasize to the lungs.The aim of this retrospective study is to evaluate the operative results and prognosis of pulmonary metastasectomy in patients with primary urogenital tumors.MethodsThis study was approved by the local ethical committee. We retrospectively analyzed the surgical and oncological results of patients who underwent lung resections for urogenital cancer metastases in our department between 2002 and 2018. Demographic data and clinicopathological features were extracted from the medical records. Survival outcomes according to cancer subtypes and early postoperative results of VATS and thoracotomy were analyzed.Results22 out of 126 patients referred for pulmonary metastasectomy to our department had metastases from urogenital tumors. These patients consisted of 17 males and five females. Their metastasis originated from renal cell carcinoma (RCC; n = 9), bladder tumor (n = 7), testis tumors (n = 4), and prostate cancer (n = 2). There was no intraoperative complication. Postoperative complications were seen in 2 patients.ConclusionsAlthough pulmonary metastasectomy in various types of tumors is well known and documented, the data is limited for metastases of urogenital cancers in the literature. Despite the limitations of this study, we aim to document our promising results of pulmonary metastasectomy in patients with primary urogenital tumors and wanted to emphasize the role of minimally invasive approaches.     

Fibrolipoma of the Perineum: A Case Report

Fibrolipoma is a low-frequency type of lipoma. Idiopathic, benign, and relatively slow-growing tumors, lipoma arise from exclusively mature adipocytes. Fibrolipoma are characterized by adipocytes mixed with abundant fibrous bands. Large, pendulous fibrolipomata are even more unusual. This article describes the etiology, incidence, clinical presentation, and management of a pendulous fibrolipoma in an adult transgender male. The lesion had the appearance of a scrotal sac. Surgical ablation was performed with pathologic examination. Pathology findings are presented, along with discussion of the role of the advanced practice clinician in diagnosis and management.     

医学影像纹理分析在软组织肿瘤中的研究进展

近年来凭借大数据及深度学习使得以纹理分析(Texture Analysis)为代表的影像组学迅猛发展。随着纹理分析方法及影像新技术的不断研发应用,近年来纹理分析被越来越多的应用于临床研究,为疾病、尤其是肿瘤的诊断、分级与疗效预测评估提供有价值的医学影像依据。本文总结了纹理分析的常用方法、流程,并对软组织肿瘤的研究现况进行调查,作一综述。     

卵巢硬化性间质瘤的研究进展

卵巢硬化性间质瘤是一种临床罕见的卵巢良性肿瘤，其发病率低，病因不明确，以年轻女性多见，多为单侧肿块，常因月经不规则出血或体检发现腹部包块而就诊。影像学检查可见“湖岛征”、“快进慢出”和“向心性强化”等改变。病理组织学见单侧类圆形囊实性肿块，“假小叶”为特征性病变。免疫组织化学可见抑制素、波形蛋白和肌动蛋白等阳性表达。确诊主要通过病理组织学诊断，影像学检查具有重要参考价值。术前诊断困难，容易与卵巢纤维瘤、卵泡膜细胞瘤、卵巢库肯勃瘤和颗粒细胞瘤等相混淆。手术治疗为主要治疗手段，多采用患侧肿瘤切除术或附件切除术，术后预后较好，卵巢功能可恢复正常。对于肿瘤细胞出现核分裂象和坏死较多时，需警惕复发风险，建议长期跟踪随访。