Primary rhabdomyosarcoma of the adult liver

A 53-year-old male Caucasian presented with a massive liver tumor composed entirely of spindle-shaped cells showing light-microscopic and ultrastructural evidence of rhabdomyoblastic differentiation. No epithelial or other sarcomatous elements were included. Detailed postmortem examination failed to reveal evidence of metastatic tumor or an alternative primary site. There have been only four previous cases of primary rhabdomyosarcoma of the adult liver, all occurring in Japanese men.     

Intrasellar rhabdomyosarcoma: case report

OBJECTIVE AND IMPORTANCE: There has been only one reported case of an intrasellar rhabdomyosarcoma, the origin of which was in the para-nasal sinus. The authors encountered a patient with an intrasellar rhabdomyosarcoma with no evidence of tumor at any additional sites. CLINICAL PRESENTATION: A 28-year-old otherwise healthy man complaining of headache exhibited left abducent nerve palsy and left visual disturbance. The patient was diagnosed as having a sellar tumor invading the left cavernous sinus. INTERVENTION: Near total removal of the tumor was achieved via a trans-sphenoidal approach. Histologically, the tumor was composed of small, round-to-elongated undifferentiated cells and large spindle cells with myoblastic features. Immunohistochemically, tumor cells were positive for antibodies against desmin, myoglobin, and alpha-smooth muscle actin. The tumor was identified as an embryonal rhabdomyosarcoma on the basis of the above pathological findings. Systemic investigation, including the nasal and para-nasal regions, failed to detect any additional tumors. Postoperative local radiation therapy and chemotherapy with the use of ifosfamide, etoposide, and vincristine brought about complete initial remission. CONCLUSION: Rhabdomyosarcoma should be considered in the differential diagnosis of a primary intrasellar neoplasm.     

Mesodermal mixed tumor. Diagnosis by analysis of intermediate filament proteins

A 58-year-old patient presented with poorly differentiated adenocarcinoma, probably primary in the ovary and, later in the course of her illness, with pure pleomorphic rhabdomyosarcoma. There was no evidence by light or electron microscopy of a mixture of these two tumor types. Further analysis by immunoperoxidase demonstrated scattered desmin-positive (muscle) cells in the adenocarcinoma portion of the tumor, establishing the diagnosis of malignant mesodermal mixed tumor.     

Rhabdomyosarcoma of the duodenum: report of a case

This report presents a case of primary pleomorphic rhabdomyosarcoma arising in the duodenum. A 63-year-old male with persistent melena was referred for a solid tumor in his right upper abdomen detected using ultrasonography. Gastrofiberscopy revealed a protrusion in the upper part of the duodenum, with a large ulcer on the top of it. Enhanced computed tomography showed that the tumor extended to the pancreas. Pancreaticoduodenectomy was performed, despite the absence of malignant cells in the biopsy specimen, with a preoperative diagnosis of duodenal cancer. The tumor consisted of multiple cell types, and immunohistochemical staining was positive for desmin, HHF-35 and alpha smooth muscle actin. Electron microscopy revealed primitive Z-band structures in the tumor. The final diagnosis was pleomorphic rhabdomyosarcoma of the duodenum. This is the first report of primary rhabdomyosarcoma occurring in the duodenum, confirmed by immunohistochemical staining and electron microscopy.     

Primary cardiac carcinosarcoma: a rare, aggressive tumor

Primary cardiac carcinosarcoma is a rare cardiac tumor, and little is known about its natural history. We treated a man who had no evidence of a cardiac mass at initial echocardiography, but 19 months later he had a large biatrial tumor with left ventricular inflow obstruction. Only palliative resection could be achieved. Four months postoperatively extensive tumor recurrence was found, and he died a month later. Histologic examination showed cells with features of both rhabdomyosarcoma and adenocarcinoma, and the tumor was classified as a primary cardiac carcinosarcoma.     

Primary cardiac rhabdomyosarcoma following a uterine leiomyosarcoma: double primary sarcomas.

Primary cardiac rhabdomyosarcoma is rare. A dismal prognosis is usually given due to its high propensity for distant metastases, with survival rarely exceeding 2 years. We report a case that was initially considered to be a cardiac metastatic tumor from a primary uterine leiomyosarcoma, but after morphological and immunohistochemical examinations was shown to be a primary cardiac rhabdomyosarcoma. The right atrium was filled with a mass that oscillated between the right atrium and ventricle through the tricuspid valve. To reduce the risk of sudden death from tumor embolism into the pulmonary arteries, the tumor was resected. Even though the surgery was not curative, it eliminated the risk of sudden death due to tumor embolism into the pulmonary arteries and improved short-term survival.     

Primary cardiac rhabdomyosarcoma following a uterine leiomyosarcoma

Primary cardiac rhabdomyosarcoma is rare. A dismal prognosis is usually given due to its high propen-sity for distant metastases, with survival rarely exceeding 2 years. We report a case that was initially considered to be a cardiac metastatic tumor from a primary uterine leiomyosarcoma, but after morpho-logical and immunohistochemical examinations was shown to be a primary cardiac rhabdomyosarcoma. The right atrium was filled with a mass that oscillated between the right atrium and ventricle through the tricuspid valve. To reduce the risk of sudden death from tumor embolism into the pulmonary arteries, the tumor was resected. Even though the surgery was not curative, it eliminated the risk of sudden death due to tumor embolism into the pulmonary arteries and improved short-term survival.     

Kinetics of primary tumor regression with chemotherapy: Implications for the timing of surgery

Purpose: The kinetics of tumor regression during administration of chemotherapy has relevance to the timing of surgery. The aim of this study was characterization of the time course of primary tumor regression in initially unresectable rhabdomyosarcoma, hepatoblastoma, and neuroblastoma patients. We also estimated the total cell number in the primary tumor at diagnosis. Methods: Tumor volumes of 24 pediatric patients with either unresectable rhabdomyosarcoma, hepatoblastoma, or neuroblastoma were determined by using computerized three-dimensional reconstruction from serial computed tomography (CT) scans during chemotherapy. Cell densities were calculated by counting cell numbers in high-power fields and dividing by area and section thickness. Cell number at diagnosis was then calculated. Results: Median tumor volumes at diagnosis were 175 cc, 748 cc, and 738 cc for rhabdomyosarcoma, neuroblastoma, and hepatoblastoma, respectively. The median tumor cell counts were 31, 68, and 59 × 10¹⁰ cells/tumor for rhabdomyosarcoma, neuroblastoma, and hepatoblastoma, respectively. The tumor regression was most rapid during the first two cycles, and little change in volume was observed after three cycles. Conclusion: Rapid initial reduction in primary tumor volume with chemotherapy was observed in rhabdomyosarcoma, neuroblastoma, and hepatoblastoma. These data suggest that second-look resection may be feasible after two to three cycles of chemotherapy. This hypothesis may be tested by randomizing the timing of second-look surgical intervention.Presented at the 48th Annual Cancer Symposium of The Society of Surgical Oncology, Boston, Massachusetts, March 23–26, 1995.     

Primary cutaneous epidermotropic alveolar rhabdomyosarcoma with t(2;13) in an elderly woman: case report and review of the literature

We report a case of a primary cutaneous alveolar rhabdomyosarcoma presenting on the lower limb of a 60-year old woman. The tumor was characterized by aggregates of round blue cells in an alveolar growth pattern in the dermis and subcutis, with the additional unique finding of epidermotropism. By immunohistochemistry tumor cells were positive for vimentin, muscle-specific actin, desmin, myogenin, and Myo-D1 with focal positivity for CD56, neuron-specific enolase, and S-100 protein. Staining for pan-keratin, HMB-45, melan-A, epithelial membrane antigen, chromogranin, CD99, leukocyte common antigen, and alpha-smooth muscle actin was negative. Interphase fluorescence in situ hybridization analysis from paraffin-embedded tumor demonstrated the presence of the translocation (2;13)(q35;q14) confirming the diagnosis. Further investigations revealed no tumor in the underlying deep soft tissues, and there was no evidence of metastasis in other organs. A local recurrence associated with a metastasis to a regional lymph node on the right groin was treated with an above-knee amputation and local radiotherapy to the groin area. The patient subsequently developed cutaneous metastases in the amputation stump and died 2 years after initial presentation. This case indicates that rhabdomyosarcoma may rarely present in the skin in adults and should be included in the differential diagnosis of primary cutaneous small round blue cell tumors not only in children but also in this age group.     

原发性附睾横纹肌肉瘤一例报告

目的 探讨原发性附睾横纹肌肉瘤的临床特征及诊治进展. 方法总结1例原发性附睾横纹肌肉瘤患者资料并复习文献.患者16岁,发现右阴囊肿物4个月入院.体检:右侧阴囊内4.5 cm×3.5 cm×3.0 cm卵圆形实性肿物,光滑、质硬、无压痛,透光试验阴性,腹股沟未及肿大淋巴结.术前诊断:右附睾炎性结节. 结果 骶管麻醉下行右附睾切除术.病理检查示肿瘤细胞呈小圆形,核小而深染.免疫组化染色:肌红蛋白(++++),肌动蛋白(+++),结蛋白(+++),平滑肌肌动蛋白(一).电镜下见瘤细胞胞质内较多平行排列的细肌丝,未见肌节样结构.病理诊断:右附睾胚胎性横纹肌肉瘤.患者家属拒绝进一步治疗.术后2个月右阴囊内再次发现肿块,生长迅速并疼痛,考虑附睾肿瘤复发.行右睾丸根治性切除术.冰冻切片示切缘无肿瘤细胞,病理诊断:右阴囊横纹肌肉瘤(复发).给予异环磷酰胺、长春新碱、依托泊苷联合化疗.随访1年,未见复发. 结论 附睾原发性横纹肌肉瘤罕见,进展快,临床表现无特异性,诊断主要依赖病理检查.根治性睾丸切除术加辅助化疗和放疗是主要治疗方法,预后好.     

A case report of primary rhabdomyosarcoma of the heart treated with mitral valve replacement]

We report a case of rhabdomyosarcoma involving the mitral valve of a 57-year-old female. She was referred to our hospital for progressive orthopnea and edema. Chest X-ray showed marked cardiomegaly and pulmonary congestion. Echocardiogram revealed solid mass in left atrium involving the mitral valve. Emergency operation was required because of acute heart failure. At the operation, the mitral orifice was obstructed by the tumor arising from the left atrium. After partial resection of the left atrium, mitral valve replacement with a Carpentier-Edward prosthesis was performed. Subsequently microscopic examination diagnosed as rhabdomyosarcoma. She died three months after the operation of heart failure probably due to progression of the remnant of the tumor. This, to our knowledge, is the first case of mitral valve replacement for a primary rhabdomyosarcoma of the heart in Japan.     

Primary intraosseous rhabdomyosarcoma

We report a case of primary intraosseous pleiomorphic rhabdomyosarcoma located in the pelvis of a 21-year-old woman followed for 4 years. The lytic tumor involved the acetabulum and the isthma with moderate extension to soft tissue. First line chemotherapy was unable to arrest tumor progression. Hemipelvectomy with saddle prosthesis reconstruction was performed, but septic complications dictated a secondary inter-ilio-abdominal amputation. Recurrence-free remission was achieved for 4 years, suggesting this was indeed a primary tumor. Primary intraosseous rhabdomyosarcomas are exceptional. Bone localizations generally suggest metastasis from a primary tumor often situated in an intraperitoneal localization. When search for a primary tumor is negative, intraosseous lesions can be considered as primary tumors warranting curative treatment. Radical surgical resection is recommended within the framework of a multidiscipinary management protocol associating radiotherapy and chemotherapy to improve prognosis.     

Sclerosing Rhabdomyosarcoma: Report of a Case Arising in the Head and Neck of an Adult and Review of the Literature

Sclerosing rhabdomyosarcoma is a unique rhabdomyosarcoma variant, characterized by a prominent hyalinizing matrix. A notable pitfall is the potential for the unusual matrix and often pseudovascular growth pattern of this lesion to lead to confusion with other sarcoma types, including osteosarcoma, chondrosarcoma, and angiosarcoma. Here we report a case of sclerosing rhabdomyosarcoma arising in a 40-year old male. The tumor was centered in the pterygomaxillary fossa with extensive infiltration into adjacent structures. Fine needle aspiration yielded a preliminary diagnosis of high-grade pleomorphic undifferentiated sarcoma, for which he received neoadjuvant chemotherapy and surgical resection. Microscopic examination showed a malignant spindled to round cell neoplasm with prominent osteoid-like, hyaline stroma. Focal rhabdomyoblastic differentiation and diffuse immunoreactivity for desmin and myogenin aided in diagnosis. Nineteen months status post primary resection, the patient expired with multiple lung and bony metastases. Among 39 cases reported thus far (including the present case), there is a broad age range (0.3–79 years), with an average age at presentation of 27 years. The most commonly involved sites are the extremities (n = 19) and head and neck (n = 15). Most cases have been treated by resection, often combined with radiation and/or chemotherapy. Out of 31 cases with follow-up information provided, 6 patients developed local recurrence, 7 patients developed regional or distant metastasis, and 5 patients died of disease. Herein we discuss the ongoing controversy regarding how sclerosing rhabdomyosarcoma might best fit into existing rhabdomyosarcoma classification schemes, based upon current clinicopathologic and molecular genetic evidence.     

Nephroblastoma arising in a germ cell tumor of testicular origin

We report a nephroblastoma arising in a germ cell tumor of testicular origin occurring in a 22-year-old man. Orchiectomy demonstrated a malignant mixed germ cell tumor composed of mature and immature teratoma with nephroblastoma and rhabdomyosarcoma. Following chemotherapy, the patient developed supraclavicular and retroperitoneal lymphadenopathy. Excision demonstrated metastatic teratoma at both sites. No recurrence was noted with 21 months of additional follow-up. Using tissue microdissection and loss of heterozygosity analysis, we investigated the clonality of the mature teratoma, immature teratoma, nephroblastoma, and rhabdomyosarcoma components of the primary tumor and of the metastatic mature teratoma at the two separate distant sites. Nine microsatellite polymorphic makers were used to examine the pattern of allelic loss in both primary and metastatic tumors. Loss of heterozygosity was found in 4 DNA loci, and the same pattern of allelic loss was demonstrated at all 4 loci in all of the different components of the primary tumor and the metastatic mature teratomas, supporting the germ cell tumor origin of the nephroblastoma component. Loss of heterozygosity on chromosome 17p13 (TP53) was detected in metastatic mature teratoma, but not in the primary tumor. Loss of heterozygosity was observed at 11p13, the locus of WT1 inactivation in patients genetically predisposed to nephroblastoma, and this loss may be an important genetic mechanism in nephroblastomatous differentiation of germ cell tumors. These data support a common clonal origin for nephroblastoma and the other germ cell tumor components.     

Sclerosing Rhabdomyosarcoma: Presentation of a Rare Sarcoma Mimicking Myoepithelial Carcinoma of the Parotid Gland and Review of the Literature

Sclerosing rhabdomyosarcoma (SRMS), a recently characterized variant of rhabdomyosarcoma, can pose a significant diagnostic challenge given its rarity and its histological similarity to other malignancies. SRMS is characterized by dense hyalinized or sclerosing collagenous matrix and a pseudovascular pattern of growth. SRMS shares histologic similarities with several mesenchymal tumors including: leiomyosarcoma, osteosarcoma, chondrosarcoma, angiosarcoma, and sclerosing epithelioid fibrosarcoma. We herein report a case of SRMS mimicking a myoepithelial carcinoma of the parotid gland. The tumor contained small, spindled, and epithelioid tumor cells lining pseudovascular spaces within a dense hyalinized stroma. Initial stains for keratins, S100 and p63 were negative. However the tumor cells showed desmin and myogenin positivity. The tumor was negative for FKHR gene rearrangements and showed no MDM2 gene amplification. This is the second case of SRMS to be diagnosed in the parotid gland highlighting the potential for misdiagnosis as a primary salivary gland epithelial malignancy.     

Perianal rhabdomyosarcoma: report of a case in an infant

Rhabdomyosarcoma is the most common childhood sarcoma, whereas, primary pararectal rhabdomyosarcoma is very rare. To date, four pediatric and eight adult cases have been reported. In children, the tumor presents as a perianal polypoid mass, often initially misdiagnosed. Formerly a very lethal sarcoma, rhabdomyosarcoma is now treated with combined surgery, radiation, and chemotherapy, with encouraging results.     

Soft-tissue sarcomas of the head and neck

We reviewed the charts of 352 patients at the Mayo Clinic who were diagnosed and treated for primary soft-tissue sarcomas of the head and neck from 1962 to 1982. The age at diagnosis ranged from 6 weeks to 91 years; 28 percent were pediatric patients. Regional or distant metastases were present at the time of primary diagnosis in 8 percent of patients. Nonorbital rhabdomyosarcoma was the most common tumor type (17 percent), and neuroblastoma was the rarest (2 percent). In children, rhabdomyosarcomas were proportionally more common, as was overall involvement of the orbit. Surgical excision was the sole method of tumor control in 49 percent of patients; excision with adjuvant radiotherapy or chemotherapy was used in 33 percent. In those with localized disease, overall survival was 81 percent at 2 years, 68 percent at 5 years, and 60 percent at 10 years postoperatively. Patients with angiosarcoma and nonorbital rhabdomyosarcoma experienced the poorest survival rates.     

Pediatric urologic oncology

Effective chemotherapy combined with surgery has produced excellent disease-free survival rates in most children with genitourinary malignancy. For patients with Wilms' tumor, the overall 2-year survival rate with no evidence of disease is greater than 90 per cent, and the interval of chemotherapy continues to be reduced for those children with low-stage lesions and favorable histologic patterns. In children with pelvic rhabdomyosarcoma, primary cytoreductive chemotherapy has proved to be an effective alternative to exenterative surgery. Patients with yolk-sac tumor who have localized disease need not be subjected to the potential morbidity of retroperitoneal lymph-adenectomy or the toxicity of adjuvant chemotherapy. Conversely, patients with advanced disease can be salvaged with recently developed combination chemotherapeutic regimens.     

Childhood rhabdomyosarcoma of the trunk and extremities.

Since 1979, 15 children with rhabdomyosarcoma have been treated at our institution. Included in this group are six children who presented with rhabdomyosarcoma of an extremity or trunk, requiring the use of combined multimodality therapy. The patients were clinically grouped and treated in accordance with the Intergroup Rhabdomyosarcoma Study protocol. All patients received combination chemotherapy based on their respective stage of disease at diagnosis. When feasible, the primary tumor was resected en bloc before chemotherapy was begun. After surgery, patients with unclear postoperative surgical margins and an initial good response to chemotherapy received radiotherapy to the primary site and at the regional lymphatics. Three of six patients developed or maintained a complete tumor response to induction chemotherapy. Radiotherapy maintained control of local disease in both groups. Overall, four patients, including one with disseminated disease at diagnosis, are alive, with a median survival time from diagnosis of 39 months. In children, treatment must be individualized, but complete local excision of the tumor with a tumor-free margin should be the goal. Major ablative amputation surgery was not performed.     

Prognostic factors in head and neck rhabdomyosarcoma

BACKGROUND: Rhabdomyosarcoma comprises less than 1% of all head and neck cancer. The purpose of our study is to review our institutional experience in this disease and to identify possible prognostic factors for patients with head and neck rhabdomyosarcoma. METHODS: One hundred forty patients with rhabdomyosarcoma were identified from 1955-1999 within the tumor registry. Of these cases, 49 (35%) were noted to be primary head and neck rhabdomyosarcomas. Retrospective chart reviews were completed to obtain the following data: age, gender, site, tumor size, histologic findings, Intergroup Rhabdomyosarcoma Study Group, treatment, local control, and survival. RESULTS: The 5-year overall survival and local control rates were 60% +/- 14% and 70% +/- 14%, respectively. Tumor size < or =5 cm (p =.014) and age < or =11 years (p =.036) were predictive of improved survival, whereas age < or =11 years was predictive of improved local control (p =.006). Children < or =11 years with a < or =5-cm tumor have the best overall survival, whereas patients >11 years with a tumor >5 cm have the worst survival. The 5-year survival was intermediate for children < or =11 years with a >5-cm tumor and patients >11 years with a < or =5-cm tumor. Radiotherapy treatment duration < or =45 days in group III disease was associated with improved overall survival but not local control. For the six patients with group I or II disease, who did not receive initial chemotherapy, five had relapses at the primary and/or distant sites. CONCLUSIONS: Improvement in outcome was obtained with multimodality treatment regimens for head and neck rhabdomyosarcoma. Both tumor size and age of patient were found to influence survival.