A case showing effective radiotherapy for a radiation-induced glioblastoma

Radiation-induced glioblastoma is usually resistant to all treatments. We report a case with radiation-induced glioblastoma, in which radiotherapy was remarkably effective. A 14-year-old female with a history of acute lymphoblastic leukemia, at the age of 7, underwent 15 Gy of radiotherapy to the whole brain. She was admitted to our department due to the development of headache and nausea. Magnetic resonance imaging showed an irregularly enhanced mass in the left frontal lobe. Partial removal of the mass was performed and histological examination showed it to be glioblastoma with a high MIB-1 index. The patient underwent 40 Gy of local radiotherapy and chemotherapy with ACNU and Interferon-beta for 2 years. The residual tumor disappeared after the radiotherapy, and her status is still "complete remission", 29 months after the onset.     

Extraneural metastasis of pineal germinoma through a ventriculoperitoneal shunt, following histological change

Primary germinoma of the central nervous system carries a good prognosis because of their radiosensitivity. Recurrence is rare and extraneural metastases are even more unusual. We report a unique case of a primary intracranial germinoma exhibiting complete response to radiotherapy, but recurring as an intra-abdominal yolk sac tumor. The presence of a VP shunt is thought to have facilitated metastatic spread of the intracranial neoplasm. An 21-year-old (corrected) male was admitted with headache and consciousness disturbance. Computed tomography (CT) revealed an enhanced tumor of the pineal region and hydrocephalus. A ventriculo-peritoneal shunt was emplaced immediately. No serum tumor markers such as alpha-fetoprotein or human chorionic gonadotropin were detectable. A test dose of radiotherapy (whole brain 20Gy) was given. The tumor size was remarkably decreased. Clinical diagnosis was germinoma. Additional whole brain radiation (total 45Gy) and whole spine radiation (20Gy) were given. The tumor and the hydrocephalus regressed completely and the patient returned to school. Three years later, he experienced a feeling of abdominal fullness. CT and echotomography of the abdomen showed a large peritoneal and intra-hepatic tumor. But MRI revealed no recurrent tumor of the pineal lesion or of the other areas in the central nervous system. Radiological and clinical findings showed no tumors in the testis, the retroperitoneal cavity, or the thymus. Laboratory investigation demonstrated elevated serum AFP (26,550 ng/ml). AFP level regressed after combined chemotherapy. However, the patient died due to pneumonia and multiple organ failure. Only needle necropsy was performed. The microscopic appearance of the peritoneal tumor was confirmed to be an endodermal sinus tumor. It was suspected to be a metastasis of the pineal tumor through the V-P shunt system.     

Intracranial fibrosarcoma fifteen years after radiotherapy in bilateral retinoblastomas: effect of combined chemotherapy with cisplatin and VP-16

We report intracranial fibrosarcoma which developed after radiotherapy for bilateral retinoblastomas. A 16-year-old boy was admitted with swelling of his left eyelid as his chief complaint on September 10, 1987. He had a past history of bilateral retinoblastomas at one year of age, which was treated by bilateral ophthalmectomy and postoperative radiotherapy; 50 Gy to right eye and 60 Gy to left eye. Until fifteen years old, he had no trouble except blindness. On admission, a dumb-bell type huge tumor with the destruction of the orbital roof was demonstrated on CT scan and MRI. The tumor was composed of solid orbital tumor and cystic tumor located in the left frontal lobe. On September 18, partial removal of the orbital tumor and evacuation of the intracranial cyst following embolization of the left external carotid artery was performed. The histological diagnosis of the tumor was fibrosarcoma. For the residual tumor, combined radiochemotherapy was carried out. The patient was treated with intravenous administration of 20 mg/m2 of cisplatin and 60 mg/m2 of VP-16 daily for five days and then whole brain radiotherapy of 26 Gy. On March 27, 1988, he obtained a complete remission of the tumor and was discharged without neurological deficit except blindness. In this case, we have presented a radiation-induced secondary tumor after a treatment of bilateral retinoblastomas. Although the tumor was highly proliferative and invasive fibrosarcoma, we could control it well by multimodality treatment including surgery, radiation and chemotherapy. It is noteworthy that combined chemotherapy with cisplatin and VP-16 was effective against this type of tumor.     

Supratentorial primitive neuroectodermal tumor: report of a surgical case

We reported a rare case of supratentorial primitive neuroectodermal tumors (sPNET) and reviewed the literature. A 15-year-old girl presented with a one-month history of headache and vomiting. CT scans showed a huge, solid and cystic tumor with calcification, occupying the left anterior cranial fossa. The solid portion of the tumor was hypointense on T1-weighted images, slightly hyperintense on T2-weighted images, hyperintense on diffusion- weighted images, isointense on fluid-attenuated inversion recovery (FLAIR) images, and strongly enhanced after administration of contrast medium. The expansile tumor had a broad attachment to the dura matter of the anterior cranial fossa. The patient underwent an uneventful extirpation of the tumor. Microscopically, the solid tumor contained small, round poorly-differentiated cells with pleomorphic nuclei and brisk mitotic activity. The tumor cells were immunoreactive for synaptophysin and GFAP, whereas lack of MIC2 gene product expression was confirmed using the monoclonal antibody 12E7. The MIB-1-positive rate was 43%. The histological diagnosis was sPNET. Postoperatively, a dose of 30.6Gy was administrated to the whole brain and a boost of 19.6Gy to the T2-hyperintensity lesion. The patient successively received a dose of 30.4Gy to the whole spine and Linac stereotactic radiotherapy with a marginal dose of 16.8Gy at the tumor bed. Three months after radiotherapy the patient received chemotherapy using carboplatin and etoposide. Follow-up MR images showed no evidence of recurrent tumor 5 months after the radiochemotherapy. On the basis of MR findings on both diffusion-weighted and FLAIR images, preoperative diagnosis of sPNET may be important for choosing appropriate therapeutic strategies for this tumor.     

泌尿系统原发性原始神经外胚层瘤临床病理分析

目的 探讨泌尿系统原发性原始神经外胚层瘤(primitive neuroectodermal tumor,PNET)的临床病理特征、免疫学表型、治疗方法及预后.方法 回顾性分析3例泌尿系统原发性PNET患者资料.3例均为男性,年龄分别为29、32和75岁.2例原发于肾脏,1例原发于膀胱.2例肾肿瘤大小分别为7.7 cm×6.2 cm和12.6 cm×9.4 cm,影像学检查提示肿瘤边界尚清,内部回声欠均匀.膀胱肿瘤大小为10.0 cm×10.0 cm,影像学检查提示膀胱壁不规则增厚,其内密度不均匀.2例肾肿瘤行肿瘤根治术,膀胱肿瘤行血块取出术及肿瘤活检术.结果 光镜下,瘤细胞为形态一致的小圆形或卵圆形,被纤维结缔组织分隔成实性片状或巢状,并形成假菊形团或Homer-Wright菊形团,核分裂象多见.免疫组化标记:3例肿瘤CD99、突触素和波形蛋白均为阳性.1例肾肿瘤Ki67阳性率＜5%,另1例80%阳性.3例病理诊断均为PNET.例1肾肿瘤患者未行化疗,于术后14个月复发死亡;例2肾肿瘤及例3膀胱肿瘤患者术后予以化疗,分别于术后4、6个月死亡.结论泌尿系统原发性PNET是一种少见的高度恶性软组织肿瘤,诊断主要依据病理形态学特征及免疫组化标记.目前治疗方法主要是手术加放、化疗.

Abstract：

Objective To explore the clinico-pathological features, immunophenotype, treatment and prognosis of urologic primary primitive neuroectodermal tumor (PNET). Methods The clinical data of 3 patients with urologic PNET were analyzed retrospectively. All patients were male, aged 29, 32 and 75 years respectively. Two of the lesions were located in the kidney, and the third was located in the bladder. The sizes of renal tumors were 7.7 cm×6.2 cm and 12.6 cm×9.4 cm respectively. Imaging examinations revealed a well-defined mass with inhomogeneous echo inside. The size of bladder tumor was 10.0 cm×10.0 cm. CT scan demonstrated irregular thickening of the bladder wall, and the density of the wall was inhomogeneous. In the 2 cases of renal PNET radical surgery was performed, while an emergency palliative surgery to remove a blood clot and biopsy were performed in the bladder PNET case. Results In light microscope, the tumors were characterized by uniform small round or oval cells and nest-like or dense sheet structures surrounded by sparse fibrovascular stroma. Homer-Wright rosettes or pseudorosettes were observed, as well as mitoses. Immunohistochemical study revealed that all cases showed positive staining for CD99, synaptophysin and vimentin. One of the renal tumor cells showed positive for CD56, and the other renal tumor and urocystic tumor cells were focally positive for chromogranin A. Additionally, in 1 of the cases of renal tumor there was a high positive rate of 80% for Ki67 staining while the other case showed less than 5%. All 3 cases were eventually diagnosed as PNET. The first renal tumor case was not treated with radiotherapy and chemotherapy postoperatively, and the patient died of recurrence 14 months after surgery. Both the second renal tumor case and the bladder tumor case underwent chemotherapy postoperatively, and they died 4 and 6 months after surgery respectively. Conclusions The urologic primary PNET is a very rare, highly malignant soft tissue tumor, and the diagnosis must be based on pathologic findings and immunohistochemical phenotypes. The multimodal treatment for urologic primary PNET consists of surgery, chemotherapy and radiotherapy.     

Malignant thymoma in children: a 20-year review

Malignant thymomas are extremely rare in children, with only 27 cases reported thus far in the pediatric surgical literature. We report four additional cases diagnosed at this institution over the past 20 years (ages 3 to 14 years). Clinical presentations included superior vena cava syndrome, cough, dyspnea, cyanosis, enlarging mediastinal mass, spontaneous pneumothorax, and pleuropericardial effusion. Three patients underwent incomplete resection of the mass or biopsy because of "unresectability" and were treated with radiotherapy and adjunctive chemotherapy. One patient underwent near complete macroscopic resection as well as radiotherapy and chemotherapy. All patients died at intervals ranging from 6 months to 2 1/2 years after diagnosis. Three patients were found to have metastatic disease prior to death or at autopsy. In one case, the initial pathological diagnosis was lymphocytic thymoma. After ultrastructural studies were performed, the diagnosis was changed to thymic T-cell lymphoma. This patient subsequently developed acute lymphoblastic leukemia 3 months after surgical resection followed by radiotherapy. Malignant thymomas are highly aggressive tumors in children. A radical surgical approach with complete excision of the tumor and contiguous structures in continuity, with adjunctive radiotherapy and chemotherapy remains the only hope for survival in children with these rare lesions.     

Metastatic primitive neuroectodermal tumor of the kidney in adults.

OBJECTIVE: Primitive neuroectodermal tumors (PNET) of the kidney are rare and highly aggressive malignancies. The purpose of our study was to present information about the management of patients with metastatic disease. METHODS: The records of 2 patients (30-year-old female and 32-year-old male) with metastatic PNET of the kidney were reviewed and our data compared with the literature. RESULTS: Neither clinical evaluation nor radiological methods allowed to distinguish PNET from renal cell carcinoma. Immunohistochemistry revealed strong positivity for CD99 in tumor 1 and weak positivity for NSE and vimentin in both tumors. In tumor 2, EWS/FLI1 translocation was detected by RT-PCR. Patient 1 underwent nephrectomy, seven cycles of polychemotherapy, two cycles of high-dose chemotherapy, autologous bone marrow rescue, radiotherapy of suspicious skeletal foci and is without evidence of recurrent disease 28 months after therapy. Patient 2 underwent six cycles of polychemotherapy, nephrectomy, high-dose chemotherapy with cyclophosphamide and abdominal radiotherapy. Because of relapse high-dose chemotherapy with stem cell rescue was not performed. He underwent three further cycles of polychemotherapy and died one year after diagnosis due to cerebral metastasis. CONCLUSIONS: The diagnosis of renal PNET must be considered in young patients with renal neoplasm, particularly those with advanced disease at presentation. Achieving exact diagnosis has important clinical consequences because polychemotherapy and high-dose chemotherapy may lead to dramatic tumor reduction or even complete remission.     

Two cases of primary female urethral cancer

Herein, we report two cases of female urethral cancer. Case 1 presented with acute urinary retention and case 2 presented with a painful perineal mass. Magnetic resonance imaging (MRI) revealed a urethral tumor in both cases. Histopathological examination of transperineal biopsy specimens from both patients suggested clear cell adenocarcinoma in case 1 and squamous cell carcinoma in case 2. Both cases underwent total urethrectomy with partial resection of the vaginal wall and cystostomy urinary diversion. With reference to case 1, obturator lymph node metastases were observed during surgery, and treatment comprised combined radiotherapy to 60 Gy and chemotherapy with 5-fluorouracil and cisplatin following surgery. However, metastases appeared in the lung 6 months after initial treatment and she died 20 months after surgery. For case 2, tumor marker failure was observed 5 months after surgery. The same combined treatment was performed and a complete response was obtained. At 19 months after surgery, the patient showed no evidence of recurrence.     

Anaplastic astrocytoma 14 years after radiotherapy for pituitary adenoma]

A case of anaplastic astrocytoma following radiotherapy for growth hormone secreting pituitary adenoma is presented with a review of the literature. A 43 year old female was admitted with the signs of acromegaly and hypertension. An eosinophilic pituitary adenoma was subtotally removed by transsphenoidal approach, and followed by 60 Gy irradiation using a 2 x 2 cm lateral opposed field. Fourteen years later at the age of 57, she suffered from headache, recent-memory disturbance and uncinate fits. CT scan and MRI disclosed ring-like enhanced mass lesion in the left temporal lobe, corresponding to the previous irradiated field. 18F-FDG PET showed hypermetabolism at the lesion. Left frontotemporal craniotomy was performed, and a reddish gray gelatinous tumor containing necrotic center and cyst was partially removed. Histologically, the tumor consisted of hypercellular astrocytic cells with perivascular pseudorosette. Coagulation necrosis at the center of the tumor, and hyalinosis and fibrosis of the blood vessels in and around the tumor, which might have been caused by the antecedent radiotherapy, were recognized. Postoperative radio- and chemotherapy were given, however, she expired 13 months after the operation. Seven cases, including ours, of malignant glioma following radiotherapy for pituitary adenoma were reported in the literature. A total dose of irradiation varies from 45 to 95 Gy with a mean of 50 Gy. The period of latency before tumor occurrence ranges from 5 to 22 years with a mean of 10 years. The differentiation of radiation-induced gliomas from radionecrosis of the brain is also discussed.     

Spontaneous regression of primary central nervous system lymphoma: a case report

A rare case of primary central nervous system lymphoma that regressed spontaneously as shown on serial cranial magnetic resonance imagings (MRI) is described. A 60-year-old woman was admitted to our hospital with a well-enhanced mass lesion in the cerebellum although MRI had demonstrated no abnormal findings 4 months before admission. On admission, She complained of headache, but no neurological deficits were observed. The patient underwent exploratory craniotomy and the tumor was partially removed on February 14. Pathologic examination suspected B-cell type of malignant lymphoma. Postoperative MRI performed on February 23, 2001 showed disappearance of the mass lesion without further treatment. Different polymerase chain reaction (PCR) assays detected clonal immunoglobulin heavy chain gene rearrangements in paraffin-embedded tissues diagnosed as B-cell lymphoma. The patient was discharged without any neurological deficits for two weeks and was followed up on MRI. One year after operation, MRI revealed an abnormal finding in the cerebellum without apparent neurological deterioration. Radiation therapy of the whole brain and the local site was carried out with a total dose of 50Gy. MRI demonstrated complete remission of the tumor following radiation therapy. She was admitted again to our hospital with right hemiparesis on May, 2003. Subsequently, systemic chemotherapy was carried out. The patient died 2 years and 10 months after her initial presentation.     

Primary paratesticular adult ganglioneuroma

Granulocytic sarcoma is a rare tumor composed of neoplastic blood cells, typically occurring during the course of, or before the onset of, acute nonlymphoblastic leukemia. We present a case of a 37-year-old man with acute testicular pain who was found to have a testicular mass diagnosed as granulocytic sarcoma (GS). Because GS virtually always progresses to leukemia, he underwent postoperative radiotherapy and chemotherapy. He was free of disease 6 months after treatment. This case highlights a rare hematologic cancer that urologists and pathologists should be aware of because it can present as a testicular mass.     

Malignant meningioma with repeated multiple recurrence. A case report.

A case of malignant meningioma with repeated multiple recurrence was reported. A 22 year-old male first underwent the total removal of left parieto-occipital convexity meningioma in 1965. Although he had lived an uneventful life after the operation, he recognized motor weakness of the left lower limb in April 1985 when he was 41 years old and CT revealed a large tumor in the parieto-occipital parasagittal region. He underwent the total removal of the tumor and cranioplasty on May 23, 1985. After the second operation, repeated recurrence of multiple tumors was seen, which were in the frontal, parietal and occipital convexities, parasagittal regions and falx. He underwent further operations on January 23, 1986, December 11, 1986, March 30, 1987 and July 20, 1987 in addition to the first and second ones. Histological study on every operation indicated malignant meningioma with mitosis, hypercellularity and necrosis. Though radiotherapy (56 Gy whole brain irradiation) was conducted after the sixth operation, multiple tumors recurred and clinical symptoms and signs deteriorated gradually and he finally died September 9, 1989. In malignant meningioma such as our case, early aggressive radiotherapy and chemotherapy should be considered besides radical operations.     

脊柱原始神经外胚叶肿瘤的诊断与治疗

目的 总结脊柱原始神经外胚叶肿瘤(primitive neuroectodermal tumor,PNET)的诊断和治疗经验.方法 回顾性分析1999年至2009年收治的PNET患者共13例,男8例,女5例.年龄4～43岁,平均(26.9±11.1)岁.肿瘤累及颈椎6例,腰椎5例,胸椎1例,骶椎1例.9例为手术后依据病...     

Diffuse stenotic changes in the large intracranial arteries following irradiation therapy for medulloblastoma; case report

We reported a case of a patient who developed a diffuse stenotic change in the large intracranial arteries and repeated episodes of cerebral infarction after irradiation therapy for medulloblastoma. A three-year-old girl underwent the subtotal removal of cerebellar medulloblastoma and the subsequent irradiation therapy in the whole brain and spine (30 Gy in the whole brain, 20 Gy in the local brain, and 25 Gy in the whole spine). Two years later, she again underwent surgery and irradiation therapy because a recurrence of medulloblastoma had manifested itself in the frontal lobe; (40 Gy in the whole brain, 20 Gy in the local brain, and 25 Gy in the whole spine). One and half years after the second irradiation, she started suffering from frequent and refractory cerebral ischemic attacks. Cerebral angiography revealed a diffuse narrowing, and multifocal stenoses in the bilateral anterior and middle cerebral arteries. Computerized tomography demonstrated multiple cerebral infarctions. Her neurological condition deteriorated because of recurring strokes and she died at ten years of age. Most of the reported cases of patients who developed stenotic arteriopathy were children in the first decade of their life, and who were irradiated for parasellar brain tumor of low malignancy. Stenotic arteriopathy after irradiation has rarely been recognized in patients with malignant brain tumor. However, life expectancy is increasing even for those with malignant brain tumor, and it may make stenotic arteriopathy after irradiation recognized more commonly in patients with malignant brain tumor. Careful irradiation and subsequent angiographical examination should be required even in patients with malignant brain tumor.     

Ganglioglioma of the medulla oblongata: case report and review of the literature

The authors present a pediatric case of ganglioglioma occurring in the medulla oblongata. A 7-year-old boy was referred to our hospital with complaints of ataxia, seizure and sleep apnea. MRI of the brain disclosed a large tumor occupying the medulla oblongata, and the upper portion of the cervical spinal cord was also involved. The patient underwent midline suboccipital craniotomy and laminectomy of C1 to attempt radical resection of the tumor, which resulted only in partial removal of the tumor due to severe bradycardia during the operation. The histological diagnosis was ganglioglioma, WHO grade 2. Although both radiotherapy and chemotherapy were performed following the operation, the tumor remained unchanged. The patient died of respiratory arrest five months after the operation. Gangliogliomas usually occur in the supratentorial region, which permits easy surgical access and good prognosis. Only 3% of gangliogliomas occur in the brain stem, and its management can be challenging because of the difficulty of radical resection and poor response to both radiotherapy and chemotherapy.     

Primary pineal embryonal carcinoma occurring in a middle aged man

A case of a primary pineal embryonal carcinoma occurring in a middle aged man is reported. A 42-year-old man suffering from headache and nausea was referred to our department. A neurological examination revealed that he had Parinaud's sign. Head CT and MRI showed a tumor in the pineal region. He was operated on using the occipital trans-tentorial approach. The tumor was partially removed and an intra-operative specimen was used to diagnose a kind of germ cell line tumor. However, the tumor was diagnosed afterwards as a pure embryonal carcinoma. Three courses of PE chemotherapy followed by 30 Gy of whole craniospinal irradiation and 30 Gy of extended local irradiation were completed. An MRI showed the tumor to be in complete remission. Despite careful follow-up with chemotherapy every three months, a re-operation and linac radio-surgery, the tumor recurred, and disseminated. The patient died due to an intra-tumoral hemorrhage. A pure primary pineal embryonal carcinoma occurring in a middle-aged person has never been reported previously in detail.     

Therapeutic strategy for central nervous system tumors: present status, criticism and potential

Surgery, radiotherapy, chemotherapy and immunotherapy represent the combined therapeutic approach to malignant brain tumors. Surgery plays an important role in the treatment of malignant gliomas to ensure a correct diagnosis and to make room within the confines of the skull. Surgery must provide low mortality, low morbidity and at the same time, the most thorough removal possible of the tumor, while respecting the normal brain tissue surrounding the tumor. However, if treatment is limited to surgery alone, only modest results are obtained. The median survival is, in fact, 17 weeks. Radiotherapy for malignant gliomas has been used for 40 years now, but only recently has it been clearly demonstrated that doses lower than 50 Gy "whole brain" are insufficient, as is localized radiation therapy. The addition of radiotherapy (60 Gy whole brain) increases median survival to 37 weeks. The most promising approach to brain tumor therapy in the last decade is chemotherapy. Chemotherapy must take into account drug delivery problems related to the blood brain barrier, the pharmacodynamics of the brain and the cell kinetics of malignant glioma. Many chemotherapeutic substances have been employed in the treatment of brain tumors, but in particular, the nitrosoureas seem to provide the best results. Infact, the addition of BCNU to surgery and radiotherapy produces a median survival of 51 weeks. The immunotherapy of malignant gliomas has been attempted as active specific and non-specific immunotherapy, adoptive and restorative immunotherapy but, until now, the results have been disappointing. The present situation and the potential of combined therapy in the treatment of brain tumors are discussed.     

Frontal atypical teratoid/rhabdoid tumor evaluated by single-photon emission computerized tomography and positron emission tomography

A case of frontal atypical teratoid/rhabdoid tumor (AT/RT) was presented in the findings of single-photon emission computerized tomography (SPECT) using 201Tl-chloride (Tl) and 123I-metaiodobenzylguanidine (MIBG), and positron emission tomography using 18F-fluorodeoxyglucose (FDG) and (11C-methyl)-L-methionine (Met). A 16-year-old female had an episode of Jacksonian seizures one month prior to admission. CT scans showed an isodensity mass with heterogeneous enhancement in the left frontal lobe. MR images revealed a tumor with solid and cystic components and perifocal edema. SPECT demonstrated intense accumulation of Tl and MIBG in the enhancing lesion 15 min and 30 min after intravenous injection of tracers, respectively. The 6-hr delayed SPECT showed no retention of MIBG in the enhancing lesion. FDG-PET and Met-PET revealed high uptake of tracers in the enhancing lesion. Met did not accumulate in the frontal white matter, which appeared hyperintense on T2-weighted MR images. The patient underwent an uneventful extirpation of the solid mass, where Met had accumulated. Microscopically, the solid tumor contained rhabdoid cells, spindle-shaped cells resembling mesenchymal cells, and nests of small cells. The tumor cells were immunoreactive for vimentin, cytokeratin, and epithelial membrane antigen. The MIB-1 labeling index was 25%. The histological diagnosis was AT/RT. Postoperative course was uneventful. A dose of 32.4 Gy was administrated to the whole brain and a boost of 27.8 Gy to the T2-hyperintensity lesion. Five months after the radiotherapy, MRI showed neither abnormal enhancing lesions nor the T2-hyperintensity lesion. Multifarious studies using SPECT and PET are useful for differential diagnosis and for choosing optimal therapeutic strategy for this type of tumor.     

儿童阴茎原始神经外胚层肿瘤/尤文氏瘤1例并文献复习

目的:探讨原发于阴茎的原始神经外胚层肿瘤/尤文氏瘤(PNET/Ewing's sarcoma)的临床表现、病理特点、治疗方法。方法:分析本院收治的1例5岁患儿原发于阴茎的PNET/EWS患者的病例资料进行文献复习。结果:病理表现为小圆细胞恶性肿瘤,免疫组化结果显示CD99(+),分子生物学检查:EWS荧光原位杂交可见易位,符合原始神经外胚层肿瘤/尤文氏肉瘤诊断,该患者经过病理确诊为阴茎PNET/EWS,经45周化疗和局部放疗,瘤灶缩小。目前停药3个月。结论:原发阴茎PNET/EWS极罕见,临床症状无特异性,以阴茎增大伴疼痛为主,免疫组化及分子生物学检查有助于对PNET/EWS的确诊。