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??Primary retroperitoneal perivascular epithelioid cell tumor coexisting with renal angiomyolipoma and tuberous sclerosis: a case report and literature review WU Wen-ming, QIU Hui-zhong, WU Bin, et al.Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China Corresponding author: QIU Hui-zhong, E-mail: qiuhzpumc@yahoo.com.cn Abstract??Objective??The first domestic report of primary retroperitoneal perivascular epithelioid cell tumor ( PEComa). and discuss the clinical pathologic features of the disease. Methods A 29 year-old female patient was admitted in April 2009 in the general surgery department of Peking Union Medical College Hospital and was diagnosed as primary retroperitoneal perivascular epithelioid cell tumor located in the pelvic cavity coexisting with renal angiomyolipoma and tuberous sclerosis. The clinical, imaging, pathology features and treatment of the patient was analyzed retrospectively and related literatures were reviewed. Results The patient had not special symptoms and signs. The imaging methods can easily find the tumor but hard to differentiate it . The final diagnosis depends on the pathologic features and immunohistochemistry techniques. Among present literatures, scarce cases of retroperitoneal PEComa were reported. Conclusions Primary retroperitoneal PEComa is a very rare tumor that arises from mesenchymal tissues. The diagnosis of PEComa mainly depends on the pathological features. Because of the uncertain biologic behavior retroperitoneal PEComa should be followed up for a long term.     

原发性腹膜后血管周上皮样细胞瘤合并肾错构瘤及结节性硬化1例报告并文献复习

目的 探讨原发性腹膜后血管周上皮样细胞瘤（PEComa）的临床病理特点及诊断治疗。方法 报告2009年4月北京协和医院基本外科诊治的位于盆腔的原发性腹膜后PEComa1例病人的症状、影像、病理、治疗及随访情况,并结合文献进行分析。结果 术前无特异临床症状,为查体发现。术前容易通过影像学手段发现但难以确诊。最终诊断依靠病理学表现和免疫组化。文献报道的原发性腹膜后PEComa非常罕见。结论 原发性腹膜后PEComa是一种非常罕见的间叶组织肿瘤,依靠病理学方法诊断。其生物学行为不明确,建议术后长期随访。     

Perivascular epithelioid cell tumor of the ascending colon mesentery in a child: case report and review of the literature

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Perivascular epithelioid cell tumors of the gastrointestinal tract are very rare, with only about 20 previous reported cases. We present a 5.5-year-old boy with PEComa of the right colon. Treatment consisted of tumor resection only, without additional adjuvant therapy. Two years after surgery, he remains free of tumor. To the best of our knowledge, this is the youngest reported child with PEComa of the colon. We review the literature concerning PEComas in children, especially those of the gastrointestinal tract. We emphasize the importance of correct immunohistochemistry diagnosis, recommended treatment, and surveillance of this unique family of tumors.     

Transanal approach after preoperative imatinib treatment of a rectal gastrointestinal stromal tumors with external anal sphincter invasion: A case report

Introduction and importanceRectal gastrointestinal stromal tumors (GISTs) are rare, and preserving anorectal function can be challenging. We report the case of a patient with rectal GIST with external anal sphincter invasion, treated via the laparoscopic and transanal approaches.Case presentationA 61-year-old man with locally advanced GIST in the right anterolateral wall of the lower rectum was examined. Lower endoscopy revealed a 50-mm submucosal tumor located 4 cm from the anal verge. On immunohistochemistry, the biopsy specimen tested positive for CD34 and C-KIT, and the patient was diagnosed with GIST. Abdominal magnetic resonance imaging (MRI) revealed external anal sphincter infiltration. Because of the large tumor size and proximity to the anal verge, preserving the anus was challenging, and colorectal resection was avoided. Instead, neoadjuvant therapy with imatinib was administered to facilitate local resection of the tumor. Post-treatment MRI showed a reduction in tumor size (30 × 20 × 30 mm), and surgery was performed. We identified an appropriate resection line for diplomatic sphincter resection of the infiltrated area by laparoscopy alone. Thus, we performed a hybrid surgery using the laparoscopic and transanal approaches. The patient had an unremarkable postoperative course and was discharged on postoperative day 23.Clinical discussionNo study has reported cases of rectal GIST with external anal sphincter invasion wherein anal function was preserved. Here, imatinib was administered preoperatively, and hybrid surgery was performed using the transanal and laparoscopic approaches.ConclusionPreoperative treatment and surgery preserved anorectal function in a patient with a massive rectal GIST.     

Primary malignant gastric PEComa - Diagnostic and technical dilemmas

IntroductionThe World Health Organisation defines PEComa's as “a mesenchymal tumour composed of histologically and immunohistochemically distinctive perivascular cells”.¹ These ubiquitous tumours show distinctive perivascular epithelioid cell differentiation and arise most commonly at visceral and abdominopelvic sites.Presentation of caseWe present a case of a forty-two year old man presenting to accident and emergency department with upper gastro-intestinal bleeding. He had a palpable epigatric mass on examination. He underwent a CT Scan Abdomen which displayed a tumour arising from the gastric wall. Upper GI endoscopy and biopsy was carried out and biopsied were taken for histological analysis. A primary gastric PEComa was diagnosed and the patient underwent distal polya gastrectomy and gastrojejunostomy. This is believed to be the first reported case of a Primary malignant gastric PEComa.DiscussionPerivascular epithelioid carcinomas were first described in 1943 as an abnormal myoblast in a case of renal angiomyolipoma. PEComas display a strong female predominance with a typical benign course. There are approximately 100 reported cases of PEComa to date, with 55 of which were malignant. PEComa's may be subdivided into benign, uncertain malignant potential and malignant. Their natural history can be very aggressive leading to multiple metastases and death as expected with a high-grade sarcoma.ConclusionThis case depicts the aggressive nature of malignant gastric PEComa's. The majority of PEComa's are benign in nature and have a better prognosis. We display here the challenges in ascertaining a definitive diagnosis and management of such patients due to limited clinical studies.     

A case of multiple synchronous quadruple cancers of the stomach,sigmoid colon,rectum, and pancreas

IntroductionMultiple primary neoplasms are relatively rare, but their incidence has increased because of aging and improvements in diagnostic imaging.Presentation of caseA 67-year-old man presented with epigastric pain. On upper gastrointestinal endoscopy, an ulcer was seen at the gastric angle, and biopsy showed moderately differentiated adenocarcinoma (AC). Colonoscopy demonstrated a 15-mm lesion in the sigmoid colon and a submucosal lesion in the lower rectum. The biopsy showed well differentiated AC and neuroendocrine tumor (NET). In addition, abdominal CT and MRI showed a 14-mm nodular lesion in the pancreatic body suggesting pancreatic duct cancer. Based on the above findings, four synchronous cancers, including the pancreas, stomach, sigmoid colon and rectum, were diagnosed, and surgery was performed. A midline incision was made in the upper abdomen, and a distal gastrectomy, pancreatic body and tail resection, and sigmoidectomy were performed. Trans-anal tumor resection was performed for the rectal lesion. Histopathology showed invasive pancreatic duct cancer, moderately differentiated AC of the stomach, moderately differentiated AC of the sigmoid colon, and NET G1 of the rectum. The patient had no postoperative complications, 4 years 3 months after resection, and he was disease-free from all of the cancers.DiscussionThe strategy of perioperative diagnosis and treatment for multiple primary tumors is usually difficult. This process was performed by consulting a cancer board, which could be useful as a practice guideline.ConclusionThis patient in whom four tumors were completely resected at the same time and who has had a good clinical course was reported.     

Primary adenocarcinoma of the appendix presenting with fresh bleeding per rectum: A case report

IntroductionPrimary adenocarcinoma of appendix is a rarely diagnosed malignancy accounting for less than 6% of appendiceal neoplastic lesions and less than 0.5% of all gastrointestinal malignancies. It is mostly diagnosed as an incidental finding after appendicectomy.Case summaryAn 81 year old male patient presented with bleeding per rectum in a background of previous rectal polyp, hypertension, diabetes and hypothyroidism. CECT of whole abdomen findings revealed thickening at the appendix and base of the caecum. Colonoscopy showed a sessile polypoid growth at appendicular orifice, at the base of the caecum. Laparoscopy confirmed the clinical suspicion of appendicular carcinoma and laparoscopy assisted radical right hemicolectomy was performed. Final histopathology revealed well differentiated adenocarcinoma of the appendix with no lymph node involvement (pT3N0M0).DiscussionPatients with primary adenocarcinoma of the appendix present with features similar to acute appendicitis whereas anaemia or fresh bleeding per rectum is a rare presentation. Surgery is the mainstay of treatment, the extent of which will depend upon the stage. Tumours staged as T1 may be managed by appendicectomy alone provided the base is free and there are no lymphadenopathies. T2 or above require right hemicolectomy as chances of lymph node metastasis are high. Nodal involvement warrants the need for adjuvant chemotherapy. Distant metastasis to the peritoneum or liver and lungs is very rare.ConclusionWhile investigating unexplained anaemia or bleeding per rectum, full colonoscopic examination up to the appendicular orifice is important and if required, should be combined with CT scan of abdomen, to clinch the rare but possible and potentially curable diagnosis of appendicular carcinoma.     

Gastrointestinal Stromal Tumor of the Rectum Resected by Laparoscopic Surgery: Report of a Case

A 53-year-old man visited our hospital with the chief complaint of pain on urination. On digital rectal examination, a rigid immobile tumor mass with a smooth surface was palpated on the anterior wall on the right side of the rectum near the anal canal. Computed tomography (CT) and magnetic resonance imaging (MRI) of the pelvis revealed a heterogeneous tumor mass measuring 6.5 cm in diameter, which occupied the cavity of the lesser pelvis. This rectal tumor was diagnosed to be a gastrointestinal stromal tumor (GIST) based on the results of a transrectal needle biopsy. A laparoscopic abdominoperineal resection of the rectum was performed to remove the mass. The intraoperative findings showed an ambiguous boundary between the tumor and the rectum but clear boundaries between the tumor and the peripheral organs, and the use of a laparoscope allowed for a good separation by providing a good visual field. The bleeding volume was approximately 80 ml and the operative time was 320 min. The macroscopic findings of excised specimens of the mass showed the tumor, measuring 6.5 × 5.5 × 5.0 cm, to be growing extrinsically from the anterior wall on the right side of the rectum. A histological examination of the excised specimens revealed at most 5 mitoses per 50 high-power fields (×400). The tumor mass was diagnosed to be a GIST of low-grade malignancy based on these findings. The postoperative course was favorable, and there were no postoperative complications. The patient was discharged on the 8th hospital day. Laparoscopic surgery is a minimally invasive surgical procedure for rectal GIST, which is excellent in terms of esthetics. Laparoscopic surgery is therefore considered to be useful for a resection of the rectum, because the magnifying effect allows surgical maneuvers with a favorable visual field within the pelvis.     

PEComa of the talus: a unique case of a soft tissue tumor within bone

Introduction: Perivascular epithelioid cell tumor (PEComa) is a family of rare mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells (PECs). These tumors have been described at multiple anatomic sites. PEComas presenting in bone are especially rare and they have been reported to be either primary or metastatic lesions. None of them is located at the level of the foot.

Patient: We report on a case of primary bone PEComa of the talus, the first one to be published to the best of our knowledge.

Treatment and result: Limb sparing surgical treatment has been done using intralesional tumor removal, burring and application of argon beam at the tumor walls and primary filling of the tumor cavity by bone cement with so far absence of any tumor recurrence documented by multiple histological sections at second look operation nine months after primary surgery, where cement has been replaced by autologous bone graft, and by subsequent follow-up.

Conclusions: PEComa is a very rare tumor, and its presence in bone is especially rare. The here reported case of PEComa presenting at the level of the talus is, to the best of our knowledge, the first case to be reported in the literature.     

肝脏血管周上皮样细胞瘤误诊1例报告并文献复习

目的介绍1例肝脏血管周上皮样细胞瘤(perivascular epithelioid cell tumor,PEComa)的诊疗过程,并进行文献复习。方法患者男性,26岁,因反复右上腹部疼痛不适3月,发现肝占位2周入院,术前诊断肝脏占位性病变,怀疑肝癌。遂于全麻下行腹腔镜下右肝后叶切除术,术后病理诊断为PEComa。结果患者痊愈出院,术后随访1月余无明显不适,无复发。结论PEComa是起源于间叶组织的一种少见肿瘤,由特征性的血管周上皮样细胞(perivascular epithelioid cell,PEC)组成。肝脏PEComa罕见,仅有文献个案报道。肝PEComa缺乏特征性的临床特点和体征,CT及MRI表现不典型,临床较易误诊为原发性肝细胞癌(hepatocellular carcinoma,HCC)。积极手术治疗,能取得较好疗效。     

Role of mammalian target of rapamycin inhibitor in the treatment of metastatic epithelioid angiomyolipoma: A case report

Epithelioid angiomyolipoma has malignant potential; however, no effective therapy has been established for advanced cases. A 50‐year‐old woman with a history of right nephrectomy for epithelioid angiomyolipoma was referred to our institution. Computed tomography and magnetic resonance imaging showed multiple tumors in her lung, liver and pelvic cavity. The liver and pelvic tumor specimens obtained by needle biopsy confirmed the diagnosis of epithelioid angiomyolipoma recurrence. The patient was treated with everolimus (10 mg/day). Three months later, pulmonary lesions disappeared; liver and pelvic tumors significantly shrank in size, but the pelvic tumor gradually enlarged again. We carried out surgical resection of the residual liver and pelvic cavity tumors. Although the mammalian target of rapamycin inhibitor seems to be effective for treating epithelioid angiomyolipoma, its long‐term effects remain unknown. Thus, aggressive administration of a multidisciplinary treatment including molecular target therapy and surgical resection is required to improve the prognosis of epithelioid angiomyolipoma.     

Survival in patients with neuroendocrine tumors of the colon,rectum and small intestine

BackgroundNeuroendocrine neoplasms (NENs) of the colon, rectum and small intestine (SI) are increasing in incidence and prevalence. We evaluated the 5-year overall survival (OS), and cancer-specific survival (CSS).MethodsThe Surveillance, Epidemiology, and End Results (SEER) 18 registry from 2000 to 2017 was accessed to identify patients with colonic, rectal, and SI NENs.Results46,665 patients were diagnosed with NENs of the colon (n = 10,518, 22.5%), rectum (18,063, 38.7%), and SI (18,084, 38.8%). By tumor site alone, patients with well-differentiated neuroendocrine tumors (NETs) of the rectum had improved 5-year OS (HR 0.72, 95% CI 0.68–0.77, p < 0.001). However, patients with rectal poorly-differentiated neuroendocrine carcinomas (NECs) who underwent oncologic resection had lower 5-year OS (35.1%) compared to colon (41.9%), and SI (72.5%).ConclusionsSurgical resection may improve 5-year OS for NECs of the SI and colon, except in the rectum where survival was reduced. More frequent surveillance and timely initiation of systemic therapy should be considered for rectal NECs.     

Mixed large cell neuroendocrine carcinoma with squamous cell carcinoma of the rectum: Report of a rare case and review of the literature

INTRODUCTIONMixed large cell neuroendocrine neoplasms of the rectum are rare and aggressive neoplasms. Survival is poor due to the high rate of lymph node metastases and distant metastases at the time of diagnosis.PRESENTATION OF CASEWe report a case of a 50-year-old male patient with a mixed large cell neuroendocrine carcinoma with squamous cell carcinoma of the rectum located 8 cm from the anal verge, treated with low anterior resection and total mesorectal excision with free surgical margins. There were lymph nodes metastases but no distant metastases at the time of diagnosis. The patient refused to receive adjuvant chemotherapy and died 6 months later due to liver failure as a result of multiple hepatic metastases.DISCUSSIONThere are not known predisposing factors for the development of neuroendocrine rectal carcinoma. A neuroendocrine carcinoma of the rectum is a rare tumor with an incidence of less than 0.1% of all colorectal malignancies. The median survival ranges from 5 to 10.4 months in several studies and there are not sufficient data in bibliography about ideal adjuvant therapy after resection of mixed squamous large cell neuroendocrine carcinoma of the rectum.CONCLUSIONLow anterior resection and total mesorectal excision with free surgical margins in the presence of lymph nodes metastasis is not a sufficient treatment for rectal neuroendocrine carcinoma. More studies should be done in order to determine the ideal adjuvant treatment of these rare and aggressive tumors.     

Perivascular epithelioid cell tumour of the vagina in an 8 year old girl

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor with an unpredictable natural history. We present the first reported case of PEComa of the vagina diagnosed in an 8-year-old girl. This was initially diagnosed on biopsy as an embryonal rhabdomyosarcoma, and the patient underwent 3 cycles of chemotherapy according to the Mesenchymal Malignant Tumour 1989 protocol. A repeat scan, however, revealed an increase in tumor size. Total resection was achieved via a transvaginal (vertical sleeve) partial vaginectomy. The resected tumor had the typical appearance of a PEComa. Immunostains showed positive staining of tumor cells for HMB45, neuron-specific enolase, and calponin but were negative for S100 protein, melaninA, chromogranin, smooth muscle actin, desmin, caldesmon, epithelial membrane antigen, AE1/3, and synaptophysin. Six months after surgery, she remains free of tumor and is on follow-up with regular local examinations under anesthesia and computed tomography scans. Our case highlights the importance of an accurate initial diagnosis, and we stress the importance of regular surveillance over a significant period.     

Primary perivascular epithelioid cell tumor (PEComa) of the liver: Report of a case

PEComa is very rare mesenchymal neoplasm which is formed by perivascular epithelioid cells and is characterized by dual melanocytic and myoid differentiation. Up to now only a very few cases of PEComa of the liver have been described worldwide. We herein present a patient who underwent a right hemihepatectomy for a huge tumor which could not be identified by imaging investigations. A final histopathologic examination revealed a benign epithelioid tumor with a solid growth pattern, abundant vascularity, and frequently dilated vascular channels. Immunohistochemically, the tumor cells were strongly positive for HMB-45, moderately positive for actin, and faintly positive for S-100, respectively. Based on the above findings, a diagnosis of a primary clear cell “sugar” tumor was established. Because the natural history of PEComas is mostly unpredictable, the patient has been closely followed up; however, no recurrence has so far been observed. Immunohistochemical findings play a crucial role in avoiding a misdiagnosis, and a surgical resection with an adequate margin of healthy tissue remains the gold standard of treatment. A long-term periodic follow-up is reasonable in all cases presenting with PEComa.     

泌尿系统血管周围上皮样细胞瘤家族的研究现状

血管周围上皮样细胞(PEC)是常见于血管周围上皮样细胞瘤家族(PEComas)的细胞,PEC表达肌源性和黑色素细胞标志物,如HMB45.目前PEComas的概念已被广泛接受,其发病与结节性硬化病(TSC)基因TSC1和TSC2基因变异有关.PEComas少见于泌尿系统,而且泌尿系统PEComas的组织来源、上皮样血管平滑肌脂肪瘤的定义以及PEComas良恶性的区分标准尚不确定,本文将对泌尿系统PEComas的研究现状作一综述.     

Rectal gastrointestinal stromal tumor with metastasis to the penis: Case report and review of literature

We report the case of a 51-year-old gentleman with previously diagnosed gastrointestinal stromal tumor (GIST) of the rectum with metastasis to the penis. The patient underwent abdominoperineal resection of the primary tumor with negative margins and completed a three-year course of imatinib mesylate (Gleevec). Forty months after resection of his rectal tumor, the patient presented to his urologist with worsening testicular pain, mild lower urinary tract obstructive symptoms, and nocturia. A pelvic MRI revealed the presence of an ill-defined mass in the right perineum extending from the base of the penis to the penoscrotal junction. Biopsy of this mass was consistent with metastatic GIST. To our knowledge, this is the first report of metastatic GIST to the penis.     

Multiple primary gastrointestinal tumors of gastric,pancreatic and rectal origin; a case report

IntroductionThe occurrence of multiple primary synchronous or metachronous malignancies is a described phenomenon. Such cases may have genetic predisposition or could be related to environmental risk factors but may also be sporadic. We are reporting a unique combination of triple primary synchronous malignancies in the same patient.Case presentationA 71 year old man presented with constipation and per rectal bleeding with a palpable mass 5–6 cm from the anal verge on physical examination. Colonoscopy with biopsy confirmed adenocarcinoma of rectal origin. After multi-disciplinary tumor board meeting, the patient received neoadjuvant chemoradiation therapy followed by single-stage surgery. Re-staging work up showed the presence of pancreatic lesion. Incidental finding of a gastric nodule upon surgical exploration which was confirmed to be a gastrointestinal stromal tumor. The patient had an uneventful postoperative course.DiscussionMultiple primary malignancies of the gastrointestinal system has previously been reported in the literature; whether in the form of double, triple, quadruple or even quintuple primaries. Furthermore, gastrointestinal malignancies have been reported to be combined with extra-intestinal malignancies. However, this unique combination of pancreatic adenocarcinoma, rectal adenocarcinoma and gastric gastrointestinal stromal tumor has not been previously reported in the literature. Single-stage multiple resections was successful.ConclusionWe are reporting a unique case of three primary malignancies involving the rectum, pancreas and stomach. For such patients, there is no clear guidelines regarding management or surveillance, but rather should be individualized.     

Monotypic epithelioid angiomyolipoma of the kidney: A case report

A case of monotypic variant of epithelioid angiomyolipoma (AML) observed in a 62-year old woman is reported. The patient complained of abdominal fullness caused by a huge left renal mass without evidence of tuberous sclerosis complex. Imaging studies showed a left renal mass with an area showing hemorrhage and necrosis. The left renal mass, spleen and pancreatic tail were removed en bloc transabdominally. The resected tumor weighed 1200 g and showed focal necrosis and hemorrhage. Microscopically, the tumor was composed exclusively of atypical polygonal cells with copious eosinophilic cytoplasm, pleomorphic nuclei and prominent nucleoli. Tumor cells were considered to derive from perivascular epithelioid cells, and exhibited strong positive staining for HMB-45 and c-KIT, but were negative for epithelial, smooth muscle, and neural markers. As this tumor had none of the typical elements of classic AML, the final pathological diagnosis was monotypic epithelioid AML.     

Transanal Inside-Out Rectal Resection for Ultra-Low Rectal Cancer

ABSTRACT

Two major issues encountered in the surgical resection of low rectal cancers (tumor located <6 cm from anal verge) are tumor-free surgical resection margin and adequate fields of colo-anal pull-through anastomosis. The clinical consequences of ensuring gross tumor-free surgical resection margin by transanal inside-out rectal resection technique were assessed for ultra-low rectal cancer patients. From February 2009 to September 2011, ultra-low anterior resection with a new method of eversion of the rectum through the anal canal after resecting the distal rectum and colo-anal anastomosis extracorporally performed in 30 patients (age range, 41–80 years) was reviewed. All patients received preoperative neoadjuvant concurrent chemoradiotherapy (CCRT) before the surgical resection. The median operating time was 265 min (range, 220–400 min), and the median intraoperative blood loss was 325 ml (range, 80–855 ml). No in-hospital mortality was noted among these patients. R0 resection (tumor-free margin range, 0.9–2.5 cm) was confirmed in all patients by pathologic reports, except one patient with 0.5 cm tumor-free margin. The new surgical technique of transanal inside-out rectal resection and colo-anal pull-through anastomosis for selected patients with ultra-low rectal cancers seems to be a safe and alternative procedure.