结直肠转移肿瘤53例临床病理分析

目的：探讨结直肠转移肿瘤的临床病理学特征。方法回顾性分析53例结直肠转移肿瘤的临床病理学特征,对部分病例行免疫组化检测,并复习相关文献。结果明确累及结直肠肠壁者53例,其中43．4%(23/53)仅累及浆膜/浆膜下,侵至黏膜层者占37．7%(20/53)。受累肠段以乙状结肠、直肠为主(24/53,45．3%),原发肿瘤来源以女性生殖系统最为多见(33/53,62．3%),其次为消化系统(15/53,28．3%)。组织学类型以卵巢浆液性癌为主(22/53,41．5%)。96．2%(51/53)的转移肿瘤中心位于浆膜/浆膜下或肌层,26．4%(14/53)可见广泛脉管内癌栓。累及黏膜层时,35%(7/20)的转移肿瘤局灶缺乏间质结缔组织反应,20%(4/20)可见“原位生长”及“反向分化成熟”现象。17例术前活检标本中,2例被误诊为腺瘤或慢性炎症。结论肿瘤自浆膜面侵向黏膜面的“自外而内”的生长方式,以及广泛的脉管内癌栓,均高度提示转移肿瘤。“原位生长”及“反向分化成熟”现象在肠镜活检标本中易被误诊,日常工作中需引起注意。     

Metastatic tumors of the endocardium: report of three cases.

Because of their apparent rarity and the tendency of clinicians to lump indicative signs and symptoms under the heading of metastatic disease, metastatic tumors of the endocardium are seldom mentioned in the literature, in the three cases presented herein, endocardial metastases were evident at autopsy. In one case of malignant melanoma, clinical evidence for endocardial involvement was present in life. This article also presents a case of endocardial involvement by Wilms' tumor and a case of endocardial involvement by hypernephroma with pulmonry tumor emboli.     

4例胃肠道血管周上皮样细胞肿瘤临床病理学分析

目的 探讨胃肠道血管周上皮样细胞肿瘤(perivasculaRepithelioid cell tumor,PEComa)的临床及病理学特点.方法 回顾性复习4例胃肠道原发血管周上皮样细胞肿瘤的病理切片及临床资料,选取典型蜡块做相关的免疫组化染色,抗体包括黑色素相关抗原HMB45、melan-A、肌源性标记抗原SMA、desmin,以及vimentin、CgA、CK、S-100、CD117、CD34.结果 4例PEComas中男性3例,女性1例,年龄分别为36、38、42及45岁.其中2例位于升结肠,1例位于降结肠,1例位于乙状结肠.肿瘤大小4.5～10 cm,境界清楚,切面灰白色,质地均匀,局部可见出血.镜检:肿瘤细胞呈上皮样排列,细胞质丰富,透亮或嗜酸性颗粒状,细胞核空泡状,有明显的核仁,间质富于毛细血管、血窦以及厚壁血管.细胞异型性小,个别病例局部可见轻～中度异型性,分裂象0～3个/10 HPF.免疫组化结果 :肿瘤弥漫表达HMB45(4/4),弥漫或片状表达vimentin(4/4)、SMA(4/4)以及desmin(3/4).CgA、Syn、CK、S-100、CD117、CD10及CD34均阴性.4例患者行局部肠管及肿瘤切除,术后随访8、15、32及36个月均无复发和肿瘤转移.结论 胃肠道PEComa少见,为低度恶性潜能肿瘤,形态类似于软组织和其他部位的同类肿瘤,手术切除为首选治疗.     

Metastatic tumors to the urinary bladder: clinicopathologic study of 11 cases

Secondary neoplasms of the urinary bladder are uncommon, with metastatic tumors being an even rarer event. The authors studied the clinicopathology of 11 cases of metastatic tumors to bladder, which were collected from their archives between 1995 and 2010. The most common metastases in this series were breast. Some unusual metastases, including several not being previously reported, were also presented, namely, ileal carcinoid tumor, ileal gastrointestinal stromal tumor, ovarian squamous carcinoma, pancreatic gastrinoma, and renal collecting duct carcinoma. Vast majority of these patients (10/11, 91%) were female. Ninety percent of the patients presented with hematuria and/or obstructive urinary symptom as well as bladder lesions in the area of trigone, posterior wall, and/or bladder neck. Seven of the 11 patients had a known history of other metastases besides the bladder. Most of the patients (4/7, 57%) died within 1 year after diagnosis of bladder metastasis. Metastasis must be distinguished from a primary bladder neoplasm. Morphology and clinical correlation supplemented with immunohistochemical study is critical for the correct diagnosis.     

Metastatic tumors in the ovary: a problem-oriented approach and review of the recent literature.

Metastatic tumors account for a significant proportion of the ovarian tumors that cause major problems in diagnosis for the surgical pathologist. This subject is reviewed with a consideration of the various patterns and cell types encountered in these tumors. The first two categories considered, tumors with endometrioid-like and mucinous appearances, include a variety of neoplasms originating in the gastrointestinal tract and its appendages that simulate closely primary ovarian endometrioid and mucinous tumors. Other important categories reviewed include several varieties of metastatic tumors with follicle-like spaces, small cell malignant tumors, and tumors characterized by cells with abundant eosinophilic cytoplasm. The review also includes a discussion of the general considerations that are helpful in the distinction of primary and metastatic ovarian tumors. Important recent reports in the literature concerning metastatic tumors are additionally summarized.     

Lymphohistiocytoid mesothelioma: a clinical, immunohistochemical and ultrastructural study of four cases and literature review

Lymphohistiocytoid mesothelioma (LHM) is a term proposed to designate a variant of mesothelioma that assumes a histiocytoid morphology and contains intense lymphocytic infiltrates. Reports on this variant are few, and its clinicopathologic and ultrastructural characteristics are still to be defined. The authors have studied 4 such cases that were identified among 120 mesotheliomas in the electron microscopy (EM) files of a single institution between 1982 and 2002. Histologically, all 4 lesions were composed of diffuse proliferations of cells with a histiocytoid appearance, admixed with an intense lymphocytic infiltrate. All 4 were associated with an unequivocal sarcomatoid component. Immunohistochemical (IHC) studies showed that the majority of histiocytoid cells were positive for CD68 and vimentin in all 4 cases, suggesting fibrohistiocytic differentiation. Immunoreactivity for calretinin and AE1:AE3 was only very focally identified in 3 of 4 cases. All cases were negative for CEA (M), Leu-M1, and B72.3. The lymphocytic component in all 4 cases was almost entirely composed of CD3- and CD8-positive, small, mature T cells, with only a minor component of CD20-positive cells and occasional eosinophils. Although all cases contained numerous CD68 positive atypical cells, co-expression of CD68 and either calretinin or keratin by individual cells was difficult to demonstrate by immunohistochemistry. Ultrastructurally, 3 of the 4 cases demonstrated very focal mesothelial differentiation as evidenced by long and slender surface microvilli, including the case with negative immunoreactivity for calretinin and cytokeratin. Review of the literature yielded 6 additional LHM cases. Analysis of all 10 cases showed a male predominance (8:2) with a mean age of 58 years (31-73 years). All 10 cases involved the pleura. Three of 10 patients had known asbestos exposure. Six of 10 patients died of disease at 2-20 months after the diagnosis (mean, 6.9 months). The findings suggest that LHM is a distinct morphological variant of sarcomatoid mesothelioma for which mesothelial differentiation is difficult to document. Many of the cells composing these tumors exhibit fibrohistiocytic differentiation. The unusual morphological pattern of LHM makes a combined modality approach, including IHC, EM, and a knowledge of the clinical/radiologic findings, essential in achieving a correct diagnosis.     

Perlman syndrome: four additional cases and review.

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.     

Ovarian pregnancy: report of four cases and review of the literature

Ovarian ectopic pregnancy is rarely seen; it constitutes only 0.5-3% of all ectopic pregnancies and the incidence is only 1 for every 7000-40,000 deliveries. We herein report four cases of primary ovarian pregnancy encountered during the last 10 years in Miyazaki prefecture, Japan. The patients in all of these cases were admitted to their local hospitals with increased lower abdominal pain and intraperitoneal bleeding, and had surgery for total or partial oophorectomy. Grossly and microscopically, chorionic villi were exclusively found in the ovary but not in the fallopian tube, so that we diagnosed these cases as primary ovarian pregnancies. None of the patients were known to have used an intrauterine contraceptive device, which have been suggested as the cause of ovarian pregnancies in several studies. The incidence of ovarian pregnancy is recently increasing, and pathologists will have increased chances to diagnose this disease.     

Craniofacial dyssynostosis: description of the first four Spanish cases and review

Craniofacial dyssynostosis (CD) is characterized by premature fusion of the lambdoid and posterior part of the sagittal sutures, and short stature. Thus, the skull shape becomes dolichocephalic with protuberant forehead and either bulging or flat occiput. Facial changes are secondary to the skull defects, and some additional findings have also been described. We report on the first four known Spanish patients. They were unrelated and had Spanish ancestors. In the three previous reports about this syndrome, the authors hypothesized that the frequency of the gene causing CD must be rather high in the Spanish population, and relatively common in areas with Spanish ancestry. We have estimated the minimal birth prevalence of the syndrome in 0.51 per million livebirths. It has been previously suggested that the syndrome is inherited as an autosomal recessive trait, since there were two affected sisters among the nine published cases. Phenotypic variability is discussed in detail in this paper. We also underline several aspects for the anticipatory guidance of affected individuals, especially recommending a neurologic evaluation taking into account the radiologic findings in order to plan early interventions to avoid undesirable consequences of craniosynostosis. It is also recommended to perform additional studies (ophthalmologic, cardiologic, among others) to rule out the existence of associated anomalies, which are more frequent than previously considered.     

Endometriosis-associated intestinal tumors: a clinical and pathological study of 6 cases with a review of the literature

This clinicopathologic study of primary Mullerian tumors of the bowel arising in foci of endometriosis is based on six new cases and an analysis of 17 previously reported cases. Varieties of Mullerian tumors occur in the bowel; the most common types are endometrioid carcinoma, followed by various mixed Mullerian tumors and stromal sarcomas. Seventy-eight percent develop in the rectosigmoid colon, the remaining in the cecum or ileum. Those in the latter area tend to be sarcomas or mixed Mullerian tumors. Certain architectural growth characteristics, derived from precursor endometriosis, are common to most endometriosis-associated intestinal tumors (EAITs). Seventy percent of EAITs occur in the outer bowel wall. Transmural tumors tend to form luminal polyps and assume an hourglass shape. Metachronous or synchronous Mullerian tumors occur in 39% of cases. Seventy percent of women with EAITs are in their mid 30s to early 50s. Common presenting symptoms are abdominal or pelvic pain, melena, and an abdominal or pelvic mass. Documented in 26% of patients is a history of prolonged unopposed estrogen therapy. Only 28.5% of cases die of their tumors, but follow-up is less than 5 years in all but 2 patients.     

烧伤患者毛霉菌侵袭性感染（附4例报告）并文献复习

目的探讨烧伤患者毛霉菌侵袭性感染的临床表现、诊断和治疗方法。方法分析我科多年来收治的4例毛霉菌感染病例。本组4例均为男性,烧伤面积70%~94%,分别于伤后18~31d发生毛霉菌感染,4例均采用组织病理切片,2例同时有创面培养毛霉菌感染确诊。确诊后予彻底清创或截肢,并调整抗真菌药物。结果本组4例均于病程中后期出现毛霉菌感染,均有成片肌肉受累,在清创（其中截肢3例）、抗真菌治疗后,4例均于短期内死亡。结论烧伤创面发生毛霉菌侵袭性感染十分少见,病情进展快,预后差;尽早手术切痂植皮、封闭创面,去除毛霉菌定植的土壤;对可疑病例应及时确诊,立即手术彻底清创或截肢、使用两性霉素B或其脂质体有助于改善预后。     

Non-tropical pyomyositis in adults: Report of four cases and literature review

Four cases of non-tropical pyomyositis in adults are presented and 72 cases reported in the literature are reviewed. The diagnosis is often overlooked or delayed because most physicians are not familiar with the entity. Local signs of inflammation, fever, leukocytosis and an elevated erythrocyte sedimentation rate are common features.Staphylococcus aureus is the most common pathogen and the thigh muscles are the most common site involved. Computerized tomography is used to establish the diagnosis and surgical incision and drainage in combination with antibiotic therapy is successful in the majority of the cases.     

Primitive neuroectodermal tumors of the uterus: a report of four cases.

Four cases of primitive neuroectodermal tumor (PNET) of the uterine corpus are reported, bringing the total number of reported PNETs in this site to seven. The four women were in their seventh decade of life and presented with abnormal vaginal bleeding and, in two cases, an enlarged uterus. The patients underwent total or subtotal abdominal hysterectomy and bilateral salpingo-oophorectomy and, in one patient, pelvic lymphadenectomy. Three patients received postoperative radiation therapy, chemotherapy, or both. Gross examination revealed fleshy polypoid masses filling the endometrial cavity and, in two cases, deeply invading the myometrium. Histologic, immunohistochemical, and, in two cases, ultrastructural examination revealed typical PNETs that exhibited variable degrees of neural, glial, ependymal, and medulloepithelial differentiation. Two PNETs were admixed with other neoplasms: in one case a grade I endometrial adenocarcinoma and in the other a low-grade endometrial stromal sarcoma. The prognosis of the tumors was related to their stage: two patients with stage I tumor were alive with no evidence of disease at 5 and 6 years, whereas two patients with stage III or IV tumor died of tumor at 6 and 12 months. Although it has been suggested that uterine PNETs may be derived from displaced germ cells or implanted fetal tissues, evidence provided by this study, including the advanced ages of the patients and an admixture with neoplasms of unquestioned müllerian origin, suggests a müllerian origin for these tumors in at least some cases.     

Metastatic bone marrow tumours: a report of six cases and review of the literature

Bone marrow aspirations and biopsies are now employed in the investigation of many disorders in haematology, oncology, and internal medicine. In this paper, clinical, laboratory, and pathological findings are presented of patients with bone marrow metastases of solid tumours (n = 6). Anemia was detected in four cases (66.6%), thrombocytopenia in five cases (83.3%), leukopenia in three cases (50%), diffuse bone pain in four cases (66.6%), elevated serum alkaline phosphatase levels in four cases (66.6%). and hypercalcaemia in two cases (33.3%). In conclusion, bone marrow aspiration and biopsy examinations are effective, practical, and cheap in detecting solid tumour metastasis to bone marrow in a selected group of patients.     

Metastatic tumors to the parotid and submandibular glands--analysis and differential diagnosis of 108 cases

The distinction between primary salivary gland tumors and metastases of other primary tumors in salivary glands is of special importance for therapy and prognosis. In the files of the Salivary Gland Register, 10,944 cases were collected during 1965 and 1985. Among these cases, there were 108 cases of metastatic tumors to the parotid and submandibular gland. The pathohistological analysis of these tumors revealed the following data: 47 cases (43%) of metastatic tumors were localized in the parenchyma of the parotid gland (37 cases) or of the submandibular gland (10 cases). 61 cases (57%) displayed metastases in the lymph nodes of the parotid gland (38 cases) or of the submandibular gland (23 cases). The sublingual gland was free of metastatic tumors. 65 metastatic tumors originated from primary tumors in the neighborhood (head and neck). 32 tumors were carcinomas of the skin, 17 tumors were melanomas, and 13 tumors were nasopharyngeal cancers. Metastases of thyroid cancers were found in 3 cases. The relative frequency of metastases in the lymph nodes of the salivary glands is due to the intense drainage with lymph vessels and the presence of many lymph nodes which are localized especially in the gland parenchyma or around the parotid gland. 21 metastatic tumors originated from primary tumors distant from the head and neck region. There were metastases of lung cancers (7 cases), renal cancers (6 cases), mammary cancers (6 cases), colonic cancer (1 case) and uterus cancer (1 case). Clear cell carcinomas in salivary gland tissue should always be checked for a metastasis of a primary renal cancer.(ABSTRACT TRUNCATED AT 250 WORDS)     

Metastatic melanoma of the gallbladder: report of two cases and a review of the literature

Melanoma is one of the most aggressive and highly metastatic cancers. The most common sites of distant metastases are soft tissues, lung, liver, skin and brain, whereas only few patients develop gastrointestinal metastases. Metastatic involvement of the gallbladder is rare and more often part of a widespread disease than a solitary lesion. The “gold-standard” treatment of metastatic melanoma of the gallbladder remains unclear. We report two cases of patients with past history of cutaneous melanoma who developed visceral metastases. The first patient was asymptomatic and had a widespread disease with metastatic involvement of both the spleen and the gallbladder. The second patient had an isolated metastasis of the gallbladder and complained of upper abdominal pain. The chosen treatment was open cholecystectomy (and splenectomy) in the first case and laparoscopic cholecystectomy in the second. A review of the literature is provided.     

Cytogenetics of pineoblastoma: four new cases and a literature review

Pineoblastoma represents a class of primitive neuroectodermal tumors (PNET) with poorly differentiated neuroepithelial cells that are histologically indistinguishable from medulloblastomas. It is a rare tumor, typically arising in childhood, and to date only a few cytogenetic cases have been published. We report four new cases in which conventional cytogenetics demonstrated the presence of an abnormal clone. The tumors showed a variety of ploidy levels, from hypodiploid to hypertetraploid. Both structural and numerical aberrations were frequent, and in three out of the four cases a large degree of cell-to-cell variation was observed. The most frequently involved chromosome in structural rearrangements was chromosome 1, observed in three of the four cases. The short arm was involved in two of the three cases; in the third case, the anomaly was in the long arm. Two cases showed unbalanced gain of chromosome 17q, one of them showing i(17)(q10). Together, the four cases illustrate the complex karyotypic nature of this tumor type and represent a step toward determining whether a nonrandom cytogenetic picture exists and how this may be related to other associated tumor types.