宫颈原始神经外胚层肿瘤一例及文献复习

为探讨宫颈原始神经外胚层肿瘤[primitive neuroectodermal tumor,PNET;又称尤文氏肉瘤（Ewing sarcoma）]的组织起源、临床特征及诊治进展,提高对该种特殊类型宫颈恶性肿瘤的认识,回顾性分析2016年1月吉林大学第二医院收治的1例PNET患者,该患者体检发现宫颈肿物,无特殊临床表现,经手术病理及免疫组织化学（免疫组化）染色确诊,免疫组化显示人白细胞分化抗原99（cluster of differentiation 99,CD99）、波形蛋白（vimentin,VIM）阳性。提示该类肿瘤极为罕见,生长迅速、恶性程度高、侵袭性强、死亡率高、预后极差,目前尚无标准治疗方案,诊断主要依据病理、免疫组化及细胞遗传学。     

Primitive neuroectodermal tumor of the uterus. A case report

BACKGROUND: Primitive neuroectodermal tumors (PNETs) of the uterus are very rare. Even preoperative curettage specimen morphology does not permit establishing a proper histogenetic diagnosis. CASE: A 16-year-old woman was admitted to the hospital because of metrorrhagia of three months' duration. The curettage specimen was interpreted as poorly differentiated sarcoma. The patient was operated on, and a total abdominal hysterectomy with bilateral salpingo-oophorectomy with omentectomy was performed. Histologically the tumor was composed of uniform, rounded, oval and sometimes spindle shaped cells with a narrow rim of eosinophilic cytoplasm. The cells were positive for neurogenic marker protein gene product, neuron-specific enolase and Ewing's sarcoma-related HBA-71. All cells were uniformly negative for Ber EP4 monoclonal antibody recognizing an epithelium-specific surface antigen. A diagnosis of PNET was rendered. The patient received combined therapy, external radiation to the pelvis and chemotherapy. Four years later she was alive, without signs of recurrent tumor. CONCLUSION: In spite of the generally recognized aggressive behavior of PNET, it can have a long disease-free survival rate when appropriately treated.     

Primary primitive neuroectodermal tumor of the urinary tract.

Primary primitive neuroectodermal tumor (PNET) of the urinary tract is a rare disease with aggressive behavior and poor prognosis. We analyzed 851 cases of urinary tract malignancies in our hospital between 1984 and 2004. Only three (0.035%) cases with PNET of the urinary tract were identified. Presenting symptoms included flank pain and hematuria. The first case was a 44-year-old man with left renal PNET who underwent hand-assisted laparoscopic radical nephrectomy and adjuvant chemotherapy. There was no recurrent tumor at the 4-year follow-up. The second case was a 75-year-old woman with right renal PNET with inferior vena cava (IVC) thrombosis extending to the right atrium. The patient underwent right radical nephroureterectomy and IVC thrombectomy with cardiopulmonary bypass. She died of metastatic disease 7 months later. The third case was a 45-year-old man with left ureteral PNET. Left ureteral segmental resection and partial cystectomy were performed. Tumor recurrence was noted 7 years later. The patient died of disseminated disease 1 year after the discovery of recurrence. Urinary tract PNET appears to be an aggressive malignancy. Long-term survival is possible if complete resection is performed at an early stage.     

Primary Ewing's sarcoma-primitive neuroectodermal tumor of the uterus: a case report and literature review

BACKGROUND: Primary Ewing's sarcoma-primitive neuroectodermal tumor (ES-PNET) of the uterus is an extremely rare malignancy. CASE: A 30-year-old Korean woman presented with abnormal uterine bleeding with uterine enlargement. A computed tomography (CT) scan and magnetic resonance imaging (MRI) of the abdomen and pelvis showed a huge uterine mass measuring 18 x 20 x 21 cm, metastasis to both pelvic and para-aortic lymph nodes, and omental infiltration. The pathology report of the uterine mass described a uniformly hypercellular tumor, which was arranged in diffuse solid sheets of uniform, small, rounded, and sometimes spindle-shaped cells, with scanty cytoplasm. Immunohistochemically, the mass tested positive for vimentin, CD99, and chromogranin. The patient received several courses of combination chemotherapy and radiotherapy but died from tumor progression 16 months after the initial diagnosis. CONCLUSION(S): This is a rare case of primary uterine ES-PNET in a woman of reproductive age. A review of the literature indicates that primary uterine ES-PNET requires early diagnosis and multimodality treatment including surgery, chemotherapy, and radiotherapy. The behavior of this tumor is potentially aggressive.     

Malignant cervical schwannoma: An unusual pelvic tumor

BACKGROUND: Primary malignant cervical schwannomas (malignant peripheral nerve sheath tumors) are extremely rare tumors that grossly may resemble many other more common lesions. The diagnosis, management, and follow-up of a malignant cervical schwannoma are presented with a review of the literature. CASE: A 51-year-old female presented with a 3-year history of perimenopausal vaginal bleeding. A 3 x 3 cm friable, spongy lesion was noted on the posterior aspect of the cervix. Frozen-section analysis could not rule out a malignant smooth muscle tumor. The patient underwent an exploratory laparotomy, total abdominal hysterectomy, and bilateral salpingo-oophorectomy. Immunohistochemistry and electron microscopy aided in the final diagnosis of a malignant cervical schwannoma. The patient is alive and well 1 year from her definitive surgery. Another patient with the same tumor received the same surgical management. This patient is now 10 years from her surgery and is alive with no evidence of disease. CONCLUSION: Immunohistochemistry and electron microscopy are useful in the diagnosis of a malignant cervical schwannoma. This case and long-term follow-up from another case provide evidence that simple hysterectomy may be sufficient therapy for this uncommon lesion.     

Primary choriocarcinoma of the uterine cervix in a postmenopausal patient: a case report

BACKGROUND: Primary cervical choriocarcinoma seen in a postmenopausal patient is a very rare entity. CASE: Primary choriocarcinoma of the uterine cervix was diagnosed in a 54-year-old woman. She had admitted to our clinic with vaginal bleeding and had been postmenopausal for 1 year at the time of diagnosis. A cervical tumoral mass was seen in her pelvic examination and cervical biopsy revealed squamous cell carcinoma of the cervix. Pelvic examination under anesthesia was done and patient was accepted as FIGO Stage IIA. Type III hysterectomy with bilateral salphingoopherectomy and bilateral pelvic-paraaortic lymph node dissection was carried out. Postoperative pathological evaluation of the surgical specimen showed that case was a primary choriocarcinoma of the cervix. CONCLUSION: This is one of the few reported cases of cervical choriocarcinoma in a postmenopausal patient. The most appropriate theory for the development of this tumor is metaplastic differentiation of the tumor from another histologic type.     

Pelvic malignant hemangiopericytoma mimicking an ovarian neoplasm; a case report

BACKGROUND: Malignant hemangiopericytoma (MHPC) is a rare vascular tumor and has been reported to occur in the musculature of the extremities, retroperitoneum and pelvis. Omental hemangiopericytomas (HPCs) are extremely rare. Synovial sarcomas and solitary fibrous tumors share histologic features with HPCs, causing diagnostic difficulties. Immunohistochemistry is essential for the diagnosis. CASE: A 74-year-old woman presented with an abdominopelvic mass. A malignant ovarian tumor was suspected on clinical features, ultrasound and computed tomography. Staging laparotomy revealed a large, vascular tumor adherent to loops of small bowel, colon, cecum and appendix, but the ovaries and uterus were normal. The tumor was completely removed after extensive dissection. Histopathology and detailed immunohistochemistry established the diagnosis of a malignant hemangiopericytoma arising from the omentum. The patient developed recurrent subacute bowel obstruction and died 4 months after the initial diagnosis. CONCLUSION: MHPCs are rare tumors and not likely to be diagnosed preoperatively. Treatment is therefore individualized and based on the findings at laparotomy. Some tumors, such as the one described here, exhibit very aggressive behavior.     

Case of uterine cervical carcinosarcoma

Carcinosarcoma (CS) is a rare neoplasm that is called a mixed epithelial and mesenchymal malignancy. CS of the uterine cervix is much less common than its counterparts in the uterine corpus. A 61-year-old, gravida 2, para 2 woman, who had undergone menopause 16 years prior to the presentation, was diagnosed with CS of the uterine cervix. A semiradical hysterectomy was carried out on the diagnosis of stage Ib1 cervical cancer. The patient underwent whole pelvic 45 Gy radiation as a postoperative additional treatment, but she died from multiple organ failure by metastasis 17 months after the operation. The tumor protruded from the cervix to the vagina and measured 4.5 x 3.0 cm. Histologically, the tumor was characterized as a squamous cell carcinoma and mesenchymal malignancy, represented by osteosarcomatous components. The stroma was largely composed of atypical spindle-shaped cells, which were immunohistochemically demonstrated to be of epithelial origin. Uterine cervical CS is one of the aggressive malignancies, and squamous cell carcinomas are common epithelial counterparts of cervical CS as well as adenocarcinomas.     

Desmoplastic small round cell tumor with primary ovarian involvement: case report and review

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive, malignant neoplasm that has recently been characterized. It has not been associated with a primary visceral organ. In women, cases are even more rare and often have some ovarian involvement. CASE: An 11-year-old girl presented with abdominal pain, nausea, and vomiting. A CT scan revealed a large heterogeneous pelvic mass with cystic components and an 8-cm midabdominal mass. During exploratory laparotomy, the patient was found to have a pelvic mass measuring 12. 9 cm replacing normal ovarian tissue. The midabdominal mass was also removed. Pathology, cytology, and immunohistochemistry confirmed a desmoplastic small round cell tumor. Even with aggressive surgical and medical intervention, the patient died 11 months after initial diagnosis. CONCLUSION: We present a rare small cell tumor that is associated with ovarian involvement. The prognosis in these patients is extremely poor and very few survivals have been reported.     

宫颈原始神经外胚叶肿瘤临床分析并文献复习

目的:探讨宫颈原始神经外胚叶肿瘤的临床表现、病理特点、治疗方法及预后。方法:回顾性分析中国医学科学院肿瘤医院2009年至2011年收治的3例宫颈原始神经外胚叶肿瘤患者病例资料并复习文献。结果:3例患者年龄22～39岁,均经病理诊断确诊,其中CD99均为强阳性表达。3例患者就诊时肿瘤均无远处转移。均接受了手术治疗和化疗,1例接受了盆腔局部放疗。3例患者中1例术后存活13个月,2例术后无瘤存活至今。结论:宫颈原始神经外胚叶肿瘤临床罕见,多发生于年轻妇女,病理及免疫组化有助于明确诊断,初诊时较少有远处转移,采用手术为主、结合化疗和放疗的综合治疗有望提高预后。     

Small cell carcinoma of the cervix: a clinical study of 15 patients and review of the literature

Objective: Small cell carcinoma of the cervix is a very rare and aggressive tumor. Most gynecologic oncology centers have little experience with this tumor. The purpose of the study was to evaluate the University of Kansas’ experience with this tumor and compare findings with those found in current literature.Methods: Fifteen patients with small cell carcinoma of the cervix were treated at or in association with Kansas University Medical Center between 1977 and 1997. Clinical data including age of patient, pregnancy history, stage of tumor, recurrence, type of therapy, presenting symptoms, location of metastases, and overall survival were studied.Results: Age at diagnosis ranged from 20 to 83 years with a mean of 47. Two patients were nulliparous, 2 were primiparous, and 11 were multiparous. Five patients (33%) were stage I, 3 (20%) were stage II, 1 (7%) was stage III, and 6 (40%) were stage IV at diagnosis. Four patients (27%) had progressive courses without good response to treatment, 7 (47%) recurred at an average of 15 months. The patients were treated with surgery, radiation, chemotherapy, or a combination thereof. Extrapelvic metastases developed in 5 of 8 patients with stage I or stage II disease with distant nodes, liver, lung, and brain being common sites. Three patients (20%) developed brain metastases. Tumor lysis syndrome was encountered in one patient. One patient was alive and well 80 months after diagnosis and one patient was lost to follow-up. The remaining 13 died of their disease. Mean survival was 22.3 months for stage Ib, 40 months for stage II, 27 months for stage IIb, 8 months for stage III, and 19.2 months for stage IV.Conclusions: Small cell carcinoma of the cervix is a rare and aggressive variant of cervical cancer. Our experience with this tumor raises the question of increased incidence of central nervous system metastases with small cell carcinoma. Present therapy has not significantly improved outcome with this tumor. There is conflicting evidence regarding the etiologic role of an infectious agent. Tumor lysis syndrome is a possible risk when treating these patients.     

Adenocarcinoma of the uterine cervix with choriocarcinomatous metastasis

BACKGROUND: Nongestational choriocarcinoma, in very rare instances, has been described as a component of other malignancies with a tendency for a very poor prognosis. CASE: A 55 year old woman was diagnosed with adenocarcinoma of the cervix, and incompletely treated with only external beam radiation. Adjuvant radical hysterectomy demonstrated no residual tumor, but the patient developed a tumor metastasis mimicking a pulmonary artery thrombus which by histology and immunohistochemistry was pure choriocarcinoma. While chemotherapy was successful in achieving a complete remission, the patient succumbed to complications of her pulmonary metastasis. CONCLUSION: Choriocarcinomatous dedifferentiation of cervical adenocarcinoma is extremely rare, with only one other case reported in the literature. While the prognosis for patients with such a tumor is generally poor, aggressive combination chemotherapy may be of benefit in some.     

Primitive neuroectodermal tumor of the myometrium with cardio-vascular symptoms

BACKGROUND: Non-bacterial thrombotic endocarditis is a severe complication of cancer, rarely reported in gynecologic tumors. However, it can be inaugural and lead to complex diagnostic pathways. CASE: A 40-year-old woman presented with a stroke, related to an endocarditis. The valvular vegetation was surgically removed, and a malignant node was resected. A PET-scan led to the diagnosis of a myometrial tumor, which was found to be a primitive neuroectodermal tumor (PNET). The patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy, and systemic chemotherapy which allowed a complete remission of tumoral and cardio-vascular symptoms. CONCLUSION: To our knowledge, this is the first case report of a PNET of the myometrium revealed by cardio-vascular symptoms.     

Primary malignant lymphoma of the cervix in pregnancy. A case report.

BACKGROUND: Malignant lymphoma arising from the uterine cervix is a very rare entity. Only two such patients have been reported as pregnant at the time of diagnosis. CASE: A 35-year-old woman (negative Pap smear at antenatal clinics) was referred because of the accidental finding of a huge cervical mass during labor. The patient underwent cesarean section because of arrest of cervical dilatation and persistent floating of the fetal head. The final diagnosis of this cervical mass was malignant lymphoma, low grade B cell, after radical abdominal hysterectomy. CONCLUSION: Although labor obstructed by a tumor of the pelvic organs is a relatively rare event and the majority of cases are benign leiomyomas of the uterus or cervix, the risk of pelvic malignancies should be considered. Bimanual examination and pelvic ultrasound and/or color Doppler ultrasound should be applied without hesitancy in any uncertain situation during pregnancy or labor.     

Primitive neuroectodermal tumor of the cervix uteri: a case report -- changing concepts in therapy

BACKGROUND: Peripheral primitive neuroectodermal tumor (PNET) of the cervix uteri is extremely rare. Between 1987 and 2002, there have been eight cases described in the English literature. The treatment policies in these eight cases differed considerably, partly due to the rarity of the disease and to differing time periods of diagnosis and treatment. CASE: At the end of 2002, a 21-year-old woman presented with a PNET of the cervix uteri at our institute, the Erasmus Medical Center. For the appropriate treatment in this case, we reviewed the literature and decided that the treatment should be different from the local surgical treatment followed by additional treatments as most of the earlier reports describe. CONCLUSION: In view of the current knowledge of PNET belonging to the family of Ewing's sarcoma, and the improvement of treatment outcome in these tumors due to dose-intensive neo-adjuvant chemotherapy, patients with PNET of the cervix should be treated in accordance to the protocol for bony Ewing's sarcoma with multimodality therapy by means of induction chemotherapy, surgery, and consolidation chemotherapy.     

Mullerian adenosarcoma with sarcomatous overgrowth of the cervix presenting as cervical polyp: a case report and review of the literature

An aggressive variant of adenosarcoma, mullerian adenosarcoma with sarcomatous overgrowth (MASO) in the cervix is extremely rare. This variant contains obvious, high-grade sarcoma in addition to a low-grade form. In this report, we describe a case of MASO of the uterine cervix and review the clinical and pathological features of these tumors. The patient was a 37-year-old woman with a cervical polypoid mass, which was morphologically considered as a benign endocervical polyp. Microscopically, polypoid cervical mass showed diffuse and dense malignant spindle cell proliferation around the benign endocervical glands and also an area of markedly anaplastic and pleomorphic spindle cell proliferation, so called, sarcomatous overgrowth. Total abdominal hysterectomy and bilateral salpingo-oophorectomy with pelvic lymph node dissection were performed. The patient has been followed-up and neither chemotherapy nor other adjuvant therapies have been administered. At present, she has been clinically free of disease for 9 months since she received surgery. It is extremely rare that MASO of the uterine cervix is presented in premenopausal woman. Gynecologists and pathologists should be aware of the difficulties associated with a delay in the diagnosis of MASO when the tumor is present as a benign looking cervical polyp.     

Primitive neuroectodermal tumor of the kidney associated with Budd-Chiari syndrome in a 17-year-old girl.

Renal primitive neuroectodermal tumor (PNET) is a rare and highly malignant neoplasm of the kidney. We report the case of a 17-year-old girl with renal PNET that was complicated by Budd-Chiari syndrome. She was admitted due to abrupt left flank pain and gross hematuria. Abdominal sonography and computerized tomography (CT) disclosed a large hemorrhagic left renal mass and thrombus in the inferior vena cava (IVC). Left radical nephrectomy was performed and renal PNET with tumor rupture and tumor invasion into the IVC was diagnosed based on operative findings and histologic features. Tumor cells were positive for neuronspecific enolase, chromogranin-A, and vimentin but negative for cytokeratin, leukocyte common antigen, CD3, and CD20. The thrombus in the IVC extended into the right atrium and caused obstruction of the right and middle hepatic venous outflow, which was evident on follow-up CT scan 5 months later. The patient died due to hepatic failure and progressive cardiovascular compromise 6 months after surgery. This case demonstrates that renal PNET can be life threatening when the tumor thrombus extends into the IVC and causes hepatic outflow obstruction.     

Primary ovarian undifferentiated non-small cell carcinoma, neuroendocrine type

BACKGROUND: Non-small cell neuroendocrine carcinoma (NSCNEC) of the ovary is a rare aggressive neoplasm, characteristically arising in association with a surface epithelial tumor. CASE: A 27-year-old woman with no significant past medical history presented with a 17-cm left ovarian tumor. She underwent an exploratory laparotomy with resection of the pelvic mass. A diagnosis of stage IA non-small cell neuroendocrine carcinoma was rendered. She was subsequently treated with Taxol and Carboplatinum. CONCLUSION: This is a report of a rare primary ovarian non-small cell neuroendocrine carcinoma. In contrast to prior reports, this neoplasm was not associated with a surface epithelial tumor.     

Metastatic primitive neuroectodermal tumor of the ovary in pregnancy

Primitive neuroectodermal tumor (PNET) is a small round tumor belonging to the PNET/Ewing's sarcoma family. We hereby report a case of PNET of the ovary, which was detected at the second trimester of pregnancy. Chemotherapy was administered and a healthy baby was delivered by cesarean section. After the pregnancy, the mother was found to have metastatic disease. Chemotherapy was continued, but she died due to progressive disease 13 months after the initial diagnosis. In this case report, we discuss chemotherapy options during pregnancy and the importance of multidisciplinary approach to unusual presentations of rare tumors.