儿童胃肠道恶性肿瘤的诊断和外科治疗

目的 探讨儿童胃肠道恶性肿瘤的诊断和治疗要旨.方法 对1996年1月至2008年5月间收治的29例胃肠道恶性肿瘤患儿的病例资料,包括肿瘤的发生部位、肿瘤类型、临床表现、治疗效果及预后进行回顾性分析.结果 患儿男26例,女3例.初诊时年龄1岁10个月～14岁,中位年龄lO岁.胃肿瘤5例,包括间质瘤1例、恶性淋巴瘤2例、内胚窦瘤1例和P-J综合征恶变1例.肠道肿瘤24例,包括恶性淋巴瘤17例、结肠癌4例和阑尾类癌3例.临床主要表现为腹痛、呕吐、发热、消化道出血、消瘦等.外科并发症主要包括穿孔、内瘘、梗阻、套叠、出血.24例接受(胃)肠切除肠吻合术,5例接受活检.2例结肠癌患儿术后半年至1年复发.17例患儿存活至今,6例失访,6例死亡.结论 儿童胃肠道恶性肿瘤发病率低,临床表现无特异性,术前诊断较困难,在急腹症和胃肠道疾患的诊断中应该注意肿瘤的鉴别诊断,强调运用各种影像学和内镜技术辅助诊断;治疗采用手术切除结合化学治疗;预后与恶性肿瘤的病理本质有关.     

Genetic alterations in ovarian carcinoma: with specific reference to histological subtypes

Multiple genetic changes including activation of proto-oncogenes and inactivation of tumor suppressor gene are involved in the development of human ovarian cancer. We describe such genetic alterations with specific reference to histological subtypes. K-ras activation is specific for mucinous tumors including adenomas. Borderline tumors and carcinomas, suggesting that K-ras activation may be associated with the mucinous differentiation rather than malignant transformation. Inactivation of p53 is detected in 30-40% of ovarian carcinoma. Mutations are more frequently observed in serous carcinomas, but not found in adenomas or rarely found in borderline tumors, suggesting that p53 mutations may be directly involved in malignant transformation. TGFbeta-2 mutations are found in 50% of endometrioid carcinoma, but rarely in other type. Loss of DCC mRNA expression is found in 50% of serous carcinomas but less frequently in other type. Loss of DCC expression is rare in borderline tumors and adenomas, suggesting that inactivation of DCC may be directly involved in malignant transformation. Microsatellite instability (MI) is found in 17% of ovarian carcinomas, and is frequently found in endometrioid carcinomas. Although inactivation of p16 by point mutation or deletion is rare, p16 inactivation by loss of expression is relatively common.     

Mucinous digestive tumors. Case reports and review of the literature

We present three rare entities of mucinous tumors: appendiceal mucinous adenomas, enteroid mucinous cyst and pseudomyxoma peritonei, the latter as a developmental course or separate idiopathic etiology of mucinous tumors. We attempted to clarify the term of pseudomyxoma peritonei, a poorly understood condition, characterized by a diffuse intraperitoneal collection of gelatinous fluid with mucinous tumoral implants on the peritoneal surfaces. With this rare condition it is often difficult to establish the histological and developmental malignant or benign characteristics. We analyzed 4 patients admitted during the period of February 2000 - February 2002 in the First Surgical Clinic of St. Spiridon Hospital and in addition we referred to the current approach in the recent literature. In three of the four patients the diagnosis was possible preoperatively by imaging techniques and consequently they were operated by laparoscopic procedure for the complete removal of tumor cells at macroscopic level. We preferred to administrate chemotherapy accordingly to the malignant/ benign aspect, choosing the long term follow up of the patients to ward off the eventual relapse. We considered the future state of these cases to be uneventful, with a real chance of long term survival. In conclusion, the symptoms are not always specific, allowing errors in diagnosis. Imaging techniques offer real elements of diagnosis. Laparoscopic techniques could offer an oncologic approach with no less benefit compared to open surgery. This methodology also allows different surgery for a different pathology at the same time. The origin of these tumors is more frequently digestive and less ovarian.     

Le mélanome anorectal: étude microscopique à propos de deux cas

Anorectal melanoma is a rare malignant tumor. It represents less than 2% of melanomas and less than 4% of malignant anorectal tumors. It is an adult pathology of poor prognosis. The purpose of our study is to assess the contribution of the microscopic examination in the positive diagnosis of these tumors. We report to observations of the department of pathology of the Ibn-Sina hospital Rabat, in Morocco. The first patient was 47 years old and presented rectal bleeding and perineal pain. Rectosigmoidoscopy revealed a brownish ulcerated and budding tumor at 1 cm of the anal margin. Computed tomography of the pelvis showed deep lymph nodes and bilateral ureteral compression. Pathologic examination concluded to the diagnosis of anorectal melanoma. The second patient was 50 years old and presented rectal bleeding with an anal tumor that rises to 10 cm in the rectum at the rectosigmoidoscopy. Microscopic study revealed an anorectal melanoma. Anorectal melanoma is a rare tumor. The absence of early clinical manifestations and the lack of clinical suspicion due to its infrequency contribute to delayed diagnosis. The confirmation of the diagnosis is based principally on the histological study coupled with immunohistochemistry. Surgery is the main treatment when it is technically feasible associated to adjuvant therapeutics such as chemotherapy and irradiation. The prognosis remains poor because of synchronous metastasis when the tumor is diagnosed.     

Heterotopic Bone Formation in Two Cases of Colon Carcinoma

Heterotopic bone formation is rare in the gastrointestinal tract. We here present the clinical and pathologic details of a 56-year-old male patient with mucinous adenocarcinoma of the colon and a 70-year-old male patient with colon metastasis previously operated on for signet-ring-cell carcinoma of the stomach who was treated with radiotherapy postoperatively. Both of them showed diffuse bone metaplasia. Heterotopic bone formation is usually present with mucin-producing benign or malignant tumors. The pathogenesis of osseous metaplasia is not well known; however, it is speculated that the extravasation of mucin may have a stimulatory role.     

Heterotopic bone formation in two cases of colon carcinoma

Heterotopic bone formation is rare in the gastrointestinal tract. We here present the clinical and pathologic details of a 56-year-old male patient with mucinous adenocarcinoma of the colon and a 70-year-old male patient with colon metastasis previously operated on for signet-ring-cell carcinoma of the stomach who was treated with radiotherapy postoperatively. Both of them showed diffuse bone metaplasia. Heterotopic bone formation is usually present with mucin-producing benign or malignant tumors. The pathogenesis of osseous metaplasia is not well known; however, it is speculated that the extravasation of mucin may have a stimulatory role.     

Primary squamous cell carcinoma of the liver concomitant with primary colon cancer: report of a case

A 55-year-old Japanese female was admitted to our hospital to treat colon cancer. Computed tomography revealed a 2.6 × 2.0 cm liver mass considered to be liver metastasis. She synchronously underwent right colectomy with D3 lymph node dissection and subsegmentectomy 8 under the diagnosis of advanced colon cancer with liver metastasis. The pathology examination revealed the liver nodule was pure squamous cell carcinoma (SCC), whereas histology of colon cancer was a well differentiated tubular adenocarcinoma containing no squamous component. The patient underwent intensive checkup by imaging for a primary site of SCC. However, no lesion considered as possible primary site of SCC was found. Therefore, the liver nodule was finally diagnosed as a primary hepatic SCC. Primary SCC of the liver is a rare and high-grade malignant tumor. Recurrent multiple liver nodule was found at 13 months after surgery and the patient died of cancer 17 months after surgery.     

A case of mucoid carcinoma of the sigmoid colon with features of a submucosal tumor

An 82-year-old man visited a medical clinic for dyschezia. His serum carcinoembryonic antigen (CEA) level was 16ng/ml. Abdominal computed tomography (CT) revealed an 8×7cm tumor in the sigmoid colon. Endoscopy showed that the sigmoid colon was insufficiently dilated but no mucosal lesions were present. Histological examination of biopsy specimens did not show malignant cells. Sigmoidectomy was performed due to suspected submucosal tumor. The final pathological diagnosis was mucoid carcinoma with features of a submucosal tumor which had no mucosal lesions. Mucoid carcinoma with features of a submucosal tumor in the colorectum is rare. Most cases are associated with ulcer lesions or scar lesions on the mucosal surface of tumor because it arises from epithelial cells.     

P53 mutation but not p16/MTS1 mutation occurs in intraductal papillary mucinous tumors of the pancreas

BACKGROUND/AIMS: Intraductal papillary mucinous tumors of the pancreas are rare lesions, which typically show a benign clinical course. However, some of these tumors have a malignant nature and grow in an invasive manner. The purpose of the study was to determine the prevalence of p53-, p16/MTS1- and K-ras mutations in benign and malignant intraductal papillary mucinous tumors with intent to value their importance for tumor progression. METHODOLOGY: Thirteen different archival tumor specimens were obtained at the Department of Pathology, University of Ulm. Three cases showed an invasive component of the tumor. Genomic DNA was extracted after laser capture microdissection of tumor cells from paraffin-embedded tissue sections. The corresponding sequences of p53 (exon 5, 6, 7, 8) and p16/MTS1 (exon 2) were amplified by polymerase chain reaction and subjected to single strand conformation polymorphism analysis. Codon 12 of K-ras was analyzed by the enrichment polymerase chain reaction-restriction fragment length polymorphism method. Positive samples were further investigated by sequencing. RESULTS: K-ras mutations occurred in benign and malignant intraductal papillary mucinous tumors (4/13), whereas an alteration of the coding p53 gene sequence could only be detected in the intraductal and invasive component of one malignant tumor. None of the tissue specimens revealed mutations in exon 2 of p16/MTS1. CONCLUSIONS: In contrast to K-ras mutations, alterations in the p53 gene may characterize ductal papillary mucinous carcinomas, which could be of major interest for their early diagnosis. The lack of mutations in the p16/MTS1 gene suggests that other genes may be involved in the formation of intraductal papillary mucinous neoplasias.     

Cystic neoplasm of the pancreas: a Japanese multiinstitutional study of intraductal papillary mucinous tumor and mucinous cystic tumor

The Japan Pancreas Society performed a multiinstitutional, retrospective study of 1379 cases of intraductal papillary mucinous tumor (IPMT) and 179 cases of mucinous cystic tumor (MCT) of the pancreas. Clinicopathologic features and postoperative long-term outcomes were investigated. IPMT were most frequently found in men and in the head of the pancreas. In contrast, all patients with MCT were women. Ovarian-type stroma were found in only 42.2% of the MCT cases. Prognostic indicators of malignant IPMT included advanced age, positive symptoms, abundant mucous secretion, presence of large nodules and/or large cysts, remarkable dilatation of the main pancreatic duct, and main duct- or combined-type IPMT. Advanced age, positive symptoms, and presence of large nodules and/or large cysts were predictive of malignant MCT. The 5-year survival rate of IPMT patients was 98%-100% in adenoma to noninvasive carcinoma cases, 89% in minimally invasive carcinoma cases, and 57.7% in invasive carcinoma cases. The 5-year survival rate of MCT patients was 100% in adenoma to minimally invasive carcinoma cases and 37.5% in invasive carcinoma cases. In conclusion, IPMT and MCT show distinct clinicopathologic and prognostic differences. The results from this study may contribute to the diagnosis and treatment of IPMT and MCT.     

Submucosal tumors of the colon: Experience with twenty-five cases

Summary and Conclusions Submucosal tumors of the colon are rare and require alertness on the part of the physician for early diagnosis. These tumors may not cause symptoms before attaining large size. In most cases the clinical histories are atypical. Because of the possibility of malignancy, adequate diagnosis and treatment are necessary. This report deals with 25 cases of submucosal tumors of the colon. The tumor series included seven leiomyomas, one granular-cell myoblastoma, two leiomyosarcomas, seven carcinoid tumors, six lipomas, one lymphangioma, and one neurofibroma. Five of the tumors were asymptomatic. The endoscopic appearances of the tumors, although not diagnostic, may give some indications as to their natures. Endoscopic removal is possible, although it is indicated for high-risk patients only. Because submucosal tumors may be malignant, and because differentiation from secondary tumors (metastases) or tumor-like lesions is difficult without histologic examination, complete removal of the tumor is the treatment of choice.     

Intraductal papillary mucinous tumors of the pancreas: the preoperative value of cytologic and histopathologic diagnosis

BACKGROUND: The preoperative diagnosis of intraductal papillary mucinous tumors of the pancreas must be as certain as possible because removal of a large portion of the pancreas or even total pancreatectomy may be necessary. The value of cytologic and histopathologic analysis of specimens obtained by preoperative endoscopic investigations is unknown. The aim of this study was to assess the value of such analyses of specimens obtained by EUS-guided FNA and/or biopsy, or transpapillary biopsy specimens obtained during endoscopic retrograde pancreatography for the diagnosis of intraductal papillary mucinous tumors of the pancreas and for the detection of malignancy. METHODS: Between 1992 and 2001, 42 patients (22 men, 20 women; median age 64 years) underwent surgical resection for intraductal papillary mucinous tumors of the pancreas and had preoperative pancreatic tissue sampling. In the case of isolated dilatation of pancreatic ducts, pancreatic juice was obtained by EUS-guided FNA for cytologic analysis. In the presence of a solid lesion or main pancreatic duct stenosis, biopsy specimens were obtained by EUS-guided FNA biopsy or endoscopic retrograde pancreatography, which permitted histopathologic assessment. The accuracy of cytology and histopathology was evaluated for the following: (1) positive diagnosis of intraductal papillary mucinous tumors of the pancreas and (2) assessment of malignancy, by comparison with histopathologic examination of surgical resection specimens. RESULTS: Cytologic analysis was performed in 19 patients; it was positive in 4 (21%) and noninformative in 15 (79%). Histopathologic analysis was performed in 23 patients; it was positive in 21 (91%) and negative in 2 (9%). Histopathologic analysis yielded a positive result in 83% of patients who did not have extrusion of mucus from a patulous papilla. The sensitivity, specificity, and positive and negative predictive values of histopathologic analysis for the diagnosis of malignancy were, respectively, 44%, 100%, 100%, and 33%. When histopathologic analysis was positive, the tumor grade was similar to that determined by final histopathologic examination in 38% of patients, whereas the grade was underestimated in 62%. No complication occurred as a result of tissue sampling. CONCLUSIONS: The sensitivity of histopathologic analysis of EUS-guided FNA biopsy specimens or transpapillary biopsy specimens is 91% for the positive diagnosis of intraductal papillary mucinous tumors of the pancreas with a solid component, which is of particular interest as extrusion mucus from the papilla was absent in most patients. Histopathologic analysis of biopsy specimens of malignant intraductal papillary mucinous tumors of the pancreas often underestimates tumor grade. The result for cytologic analysis of juice obtained from dilated pancreatic ducts is disappointing.     

Occurrence of hepatocellular and cholangiocellular carcinoma in different hepatic lobes

Separate hepatocellular and cholangiocellular carcinoma (double cancer) in the liver are extremely rare subtypes of primary hepatic carcinomas. We report a case of double primary liver carcinomas that were surgically resected simultaneously. A 66-year-old man was admitted because of elevation of serum levels of alpha-fetoprotein. Abdominal computed tomography and angiography showed two hypervascular masses in S4 and S8 hepatic segments. With the diagnosis of multiple hepatocellular carcinomas, the tumors were surgically resected. Histological examination showed that the tumor in S4 segment was moderately differentiated cholangiocellular carcinoma, the other in S8 segment was trabecular, moderately differentiated hepatocellular carcinoma. Immunohistochemically, a positive staining in carcinoembyonic antigen and cytokeratin 7 supported the diagnosis of cholangiocellular carcinoma for the tumor in S4 segment. The frequency of double cancer in the liver is much lower than mixed or combined cancer (0.1-0.5%). The different epithelial malignant tumors of hepatocellular carcinoma and cholangiocellular carcinoma, which were located in different hepatic lobes and resected simultaneously, has been reported in only two cases including the present case.     

Mucinous cystadenocarcinoma of the colon

A rare case of mucinous cystadenocarcinoma arising in the sigmoid colon, found accidentally during an operation for cholecystolithiasis, is reported. The tumor was located 40 cm from the anal verge, and had two histologic variations consisting of a large distended cystic lesion and branching cystic channels with papillary proliferation of the epithelium. Serial sections revealed the existence of a luminal communication between the two lesions. The tumor tissue was seen mainly in the muscularis propria with no mucosal involvement. The papillary portion had a highly differentiated appearance, giving rise to considerable difficulty in determining whether it was benign or malignant. In a localized area, however, the tumor invaded into the subserosa and showed distinctive atypical changes. The tumor cells showed intense reactivity for carcinoembryonic antigen. This mucinous cystadenocarcinoma was considered to be originated from an enterogenous cyst, a possible derivative of duplication of the colon. The differential diagnosis concerning this rare tumor is also discussed.     

Management of the rare entity of primary pancreatic cystic neoplasms

Primary cystic neoplasms of the pancreas constitute a rare entity and are composed of a variety of neoplasms with a wide range of malignant potential. Approximately 90% of these lesions are serous cystic neoplasms or mucin-producing neoplasms. In contrast to serous cystadenomas which are nearly always benign, the mucinous cystic neoplasms represent a more diverse, heterogenous spectrum of related neoplasms. Intraductal papillary mucinous neoplasms manifest a much greater latent or overt malignant potential than other cystic neoplasms of the pancreas. The various subgroups of cystic neoplasms of the pancreas are evaluated and compared through a review of current literature. No symptoms or signs are pathognomonic for the cystic pancreatic neoplasms. While identification of a cystic tumor is relatively easy, the identification of the specific tumor type may be difficult. Most investigators agree that accurate differentiation of benign from malignant neoplasms can be made only at histopathologic examination of the entire resected segment of the pancreas. Because of the low mortality and low postoperative morbidity, surgical resection is indicated in all patients with cystic tumors.     

Obstructive Jaundice Caused by Mucinous Cystic Tumor of Gallbladder: A Case Report and Literature Review

Mucinous cystic tumor of the gallbladder is an extremely rare benign tumor, with potential for malignant degeneration. Mucinous cystic tumors of the cystic duct are divided into mucinous cystadenoma and mucinous cystadenocarcinoma. Currently, cystadenoma is generally considered to be a precancerous lesion of cystadenocarcinoma. At present, there are few cases reported worldwide, and there are no relevant guidelines for diagnosis and treatment of this disease. This article presents the collected clinical data of a patient with mucinous cystic tumor of the gallbladder who was admitted to the First Affiliated Hospital of Hunan Normal University, with the characteristics of the disease summarized in combination with a focused literature review.     

Total inhibin is a potential serum marker for epithelial ovarian cancer

CONTEXT: Total inhibin is the sum of precursors, subunits, and mature molecules of inhibin, which the normal ovary nearly stops to produce after menopause, whereas ovarian tumors still release. OBJECTIVE: The aim of the present study was to evaluate whether the serum concentration of total inhibin has the sensitivity/specificity characteristics to become a diagnostic test for epithelial ovarian cancer in postmenopausal women. DESIGN: This was a controlled, cross-sectional study. SETTING: The study was conducted at the University of Siena. PATIENTS: Blood specimens were collected from postmenopausal women with: 1) epithelial ovarian cancer, stage II-III (n = 89); 2) benign ovarian tumors (n = 25); 3) breast (n = 10), colon (n = 10), and stomach (n = 10) cancers; and 4) controls (n = 95). In the group of women with epithelial ovarian cancer, blood specimens were also collected after surgical removal of the tumor. In four cases of women with stage IIC mucinous tumor, blood specimens were collected during the follow-up time. INTERVENTION: Total inhibin was measured by a new double-antibody ELISA. RESULTS: Women with epithelial ovarian cancers showed serum total inhibin levels significantly higher than those with benign tumor or with nonovarian tumors or controls (P < 0.001). Patients with serous (n = 40) or mucinous tumors (n = 17) showed the highest total inhibin levels (P < 0.001). At 95% specificity, the total inhibin assay detected 37 of 40 (93%) serous tumors and 16 of 17 (94%) mucinous tumors. When total inhibin was combined with CA-125, all cases of serous and mucinous tumors were detected, and the overall sensitivity for epithelial ovarian cancers was 99% at 95% specificity. A significant decrease of total inhibin levels was shown in women with serous and mucinous carcinoma as result of surgery (P < 0.001). In the four women who were followed up, recurrence was associated to an increase of total inhibin levels. CONCLUSIONS: The present data show that total inhibin is a sensitive and specific marker of epithelial ovarian cancers in postmenopausal women. Total inhibin may therefore be combined with CA-125 for noninvasive diagnosis of epithelial ovarian cancer and may also be a useful serum marker to monitor disease-free intervals.     

Giant cell tumor of the pancreas arising in the ovarian-like stroma of a mucinous cystadenocarcinoma

Summary We describe a malignant mucinous cystic neoplasm of the pancreas with ovarian-like stroma within which an osteoclast-like giant cell rich tumor arose. This rare tumor had a unique immunohistochemical profile with the giant cells staining for vimentin, leukocyte common antigen, and the monocyte/macrophage marker CD68, whereas the mucinous epithelium stained for epithelial membrane antigen and cytokeratin. The immunohistochemical findings are consistent with two lines of differentiation, one epithelial and the other suggesting mesenchymal differentiation of the giant cell tumor with an immunophenotype similar to giant cell tumor of bone. The coexistence of these two rare tumors suggests that they are histogenetically related. The finding of a giant cell tumor arising in the ovarian stroma indicates that the stroma of mucinous tumors is not always an innocuous component of the tumor.     

Transitional cell carcinoma of the renal pelvis with extension into the inferior vena cava: a report of two cases

Of all primary malignant renal tumors, 10% to 15% originate from the renal pelvis, and 90% to 92% of these tumors are transitional cell carcinomas. Nonetheless, renal pelvis transitional cell carcinoma extending into the inferior vena cava is very rare. We report one confirmed case and one highly suspicious case of renal pelvis transitional cell carcinoma with a tumor thrombus in the inferior vena cava. Both of our patients died within 6 months of initial diagnosis, indicating the poor prognosis and advanced stage of transitional cell carcinoma with an inferior vena cava thrombus. Transitional cell carcinoma should be considered in patients with obstruction of the renal vein and the inferior vena cava.