Unusual Neuroendocrine Differentiation in a Small Round Cell Angiosarcoma: A Potential Histologic Mimicker of Superficial Ewing Sarcoma.

Neuroendocrine differentiation or aberrant expression of neuroendocrine markers is very uncommon in angiosarcomas (AS) and creates a challenging differential diagnosis with other superficial or soft tissue tumors. Herein, we report a new case of superficial AS presenting as a tumor lesion on the little finger of the right hand of a 52-year-old man. The tumor displayed CD56, chromogranin-A, and synaptophysin immunoreactivity. Tumor cells were positive for vascular markers (CD31, FLI1, ERG, D2-40, VE-cadherin, VEGR1,2, and 3), CD99, and EMA, but were negative for S100, CK (AE1/AE3), CK20, polyomavirus, and myogenic (desmin and myogenin) and melanocyte markers (melan-A and HMB45). Ki67 immunostains indicated high proliferative activity (>50%). The whole-body computed tomography did not reveal distant disease. The initial assessment considered several tumor subtypes as possible histological diagnoses, including Ewing sarcoma, Ewing-like sarcoma, Merkel cell carcinoma, and undifferentiated "small round cell sarcoma". Fluorescence in situ hybridization analysis was negative for EWSR1 translocation and molecular analysis failed to detect any EWSR1, CIC, SYT or BCOR rearrangement. As a follow-up investigation, we tested 17 cutaneous/superficial AS for neuroendocrine markers; however, only one of these showed focal CD56 and synaptophysin expression. In conclusion, the present findings indicate that neuroendocrine differentiation is a very infrequent feature in AS. We report an AS of the finger with an uncommon histological appearance and immunohistochemical profile: predominant round cell tumor proliferation and neuroendocrine differentiation. Pathologists should be aware of these potential histological and immunohistochemical pitfalls in AS.

Round cell sarcoma of the colon with CIC rearrangement.

BACKGROUND: The CIC-rearranged sarcoma is a very rare highly aggressive malignant soft tissue group of tumors. It has recently been described as highly aggressive soft tissue tumors of children and young adults sharing similar morphological features with the Ewing sarcoma. The digestive localization is exceptional. CASE PRESENTATION: A 14-year-old male presented with a history of abdominal pain for 1 year, which increased in intensity over the last 2 months. Imaging findings showed a large heterogeneous mesenteric mass on the left flank of the abdomen. Exploratory laparotomy was performed and revealed a large cystic hypervascularized mass depending on the transverse colon and mesocolon. A wide excision of the lesion was performed with segmental colectomy. No postoperative complications were noted. The microscopic examination revealed a vaguely nodular growth of undifferentiated small round cells, arranged in solid sheets separated by thin fibrous septa with a scarce stroma. After an uncomplicated post-operative course, the patient was referred for chemotherapy. The patient died 2 months later with a peritoneal and pleural progression. CONCLUSIONS: The CIC-rearranged sarcoma is an aggressive tumor. There is no standard therapy for this rare disease. Their treatment includes surgery and chemotherapy. Resistance to chemotherapy is common. Further publications and studies will help to determine a standard therapy for this rare disease.

Desmoplastic small round cell tumor in the ovary: Report of two cases and literature review.

Desmoplastic small round cell tumor (DSRCT) is a rare intra-abdominal tumor of uncertain histogenesis that occurs predominantly in young males. We report two cases of DSRCT in young women that presented clinically as ovarian tumor with extensive pelvic and abdominal dissemination. Both patients underwent debulking surgery and combined chemotherapy. After primary therapy, the tumors recurred and both women died of the disease. The clinical presentation and differential diagnosis, as well as the treatment, including surgical debulking and combined chemotherapy are discussed.

Desmoplastic small round cell tumor in children: a new therapeutic approach.

PURPOSE: Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive malignancy with distinctive histologic and immunohistochemical features occurring in a young population with a male predominance. The tumor appears to arise as masses in the abdominal cavity without a clear visceral origin. Five patients with DSRCT were treated as usual with combined chemoradiation and surgery. In addition, in our center, patients underwent autologous bone marrow transplant (BMT), which is a novel approach to this disease. METHODS: Charts of 5 patients (4 males, mean age of 11 years) treated between 2000 and 2007 were reviewed. The diagnosis of DSRCT was made on the basis of clinical examination, computed tomographic scan, and explorative laparotomy with biopsy, and biochemical markers were negative. All patients were treated with aggressive chemoradiation and surgery. Three patients also had autologous BMT. RESULTS: Three patients (BMT recipients) responded to treatment. The responding patients had surgery with the intent of removing all disease. Two patients died of their cancer, neither of whom underwent BMT. CONCLUSION: The patients DSRCT are sensitive to an aggressive combination of chemotherapy, surgical debulking, and radiation therapy, followed by autologous BMT. It appears that this new multifaceted treatment offers good palliation, which may prolong survival and a possible cure.

Desmoplastic small round cell tumor: a clinical, pathological, and immunohistochemical study of 18 Chinese cases.

Desmoplastic small round cell tumor (DSRCT) was first reported in 1989. Generally, DSRCT is considered to be an aggressive malignant neoplasm that mainly occurs in the abdominal cavity and has been often seen in adolescents and young male adults. In the present study, a total of 18 cases of DSRCT reported in China between October 1998 and June 2006, including one case treated by the authors, were reviewed and analyzed. Among them, 14 had tumors in the abdominal cavity; the other four cases had tumors in the left fossa orbitalis, the root of the tongue, the soft tissue behind the left eyeball, and the abdominal wall (umbilicus). Overall, the 1-year, 3-year, and 5-year survival rates were 52.36%, 27.92%, and 27.92%, respectively. The survival rate of DSRCT patients is disappointing; however, the survival of patients who had resection of the tumor or received comprehensive clinical treatment is satisfactory.

Results of multimodal treatment for desmoplastic small round cell tumors.

PURPOSE: Desmoplastic small round cell tumors (DSRCTs) are rare aggressive neoplasms that frequently present with large symptomatic intraabdominal masses. We examined the effects of multimodal therapy including induction chemotherapy, aggressive surgical debulking, and external beam radiotherapy on patients with DSRCT. METHODS: Institutional Review Board permission was obtained. Sixty-six patients were diagnosed by histology, immunohistochemistry, and or cytogenetics as having DSRCT at our institution from July 1, 1972, to July 1, 2003. Data were collected on patient demographics, presenting symptoms, tumor location and extent, treatment regimen, and overall survival. RESULTS: A majority of patients were male (91%), Caucasian (85%), and with a median age of 19 (7-58) years old at diagnosis. The most common presenting complaint was an intraabdominal mass (64%). In 63 patients (96%), the primary tumor was located in the abdomen or pelvis. Thirty-three (50%) had positive lymph nodes and 27 (41%) had distant parenchymal metastases at diagnosis. Overall, 3- and 5-year survivals were 44% and 15%, respectively. Twenty-nine of these patients (44%) underwent induction chemotherapy (P6), surgical debulking, and radiotherapy. Three-year survival was 55% in those receiving chemotherapy, surgery, and radiotherapy vs 27% when all 3 modalities were not used (P < .02). Gross tumor resection was highly significant in prolonging overall survival; 3-year survival was 58% in patients treated with gross tumor resection compared to no survivors past 3 years in the nonresection cohort (P < .00001). Ten patients (15%) have no evidence of disease with a median follow-up of 2.4 years (range, 0.4-11.2 years). CONCLUSIONS: Multimodal therapy results in improved survival in patients with DSRCT. Aggressive surgical resection of these extensive intraabdominal neoplasms correlates with improved patient outcome.

Desmoplastic small round cell tumor presenting in the ovaries: report of a case and review of the literature.

Desmoplastic small round cell tumor is a recently recognized clinical entity with specific morphologic, immunocytochemical, and genetic features. Though this tumor is mostly described to involve serosal surfaces, we report a case with ovarian involvement. The clinical presentation and differential diagnoses as well as the treatment including aggressive surgical debulking and multiagent chemotherapy are discussed.

Surgical treatment of malignant tumors of the right heart.

Seven patients with malignant cardiac tumors were treated surgically in the Department of Cardiothoracic Surgery of the University of Tokyo between 1981 and 2000. Their treatments and outcomes are summarized and discussed. The ages of the patients ranged from 21 to 70 years old (mean: 49.5+/-15) and there were three males and four females. The histopathological diagnoses were hepatocellular carcinoma (HCC), spindle cell sarcoma, round cell sarcoma, osteosarcoma, renal cell carcinoma, and leiomyosarcoma. In four of the cases, the tumor extended or metastasized from other organs, while in the other three cases it originated in the heart. Before the cardiac operation, an above-knee amputation, left nephrectomy, transarterial embolization, or extended right hepatic lobectomy had been performed to treat the primary site of the tumor. Tumor resection using cardiopulmonary bypass was performed in every case. The NYHA classification of heart failure was significantly improved (preop: 3.3+/-0.8, postop: 1.9+/-0.7 [P<0.001]). The mean survival period of the patients who died was 8.8+/-7.0 months. A patient with renal cell carcinoma is still alive after 87 months of follow-up. In summary, surgical treatment of malignant tumors of the right heart can improve the QOL in patients with cardiac failure. However, its effectiveness was temporary in all cases except one case of renal cell carcinoma.

Successful use of intraoperative radiotherapy for local control of an Askin's tumor recurrence.

Askin s tumor is an infrequent disease, with a high tendency to local recurrence. We present the case of a 16-year-old female diagnosed with a new recurrence of this tumor affecting the thoracic wall. There had been a previous 5-year history of 3 local recurrences treated each time by apparently complete surgery. A multidisciplinary approach consisting of chemotherapy, complete chest tumor resection and intraoperative radiotherapy was undertaken. After 2-year follow-up, the patient is alive and free of disease. The role of surgery is still the key to obtaining good survival, but in this case intraoperative radiotherapy proved to be a good adjuvant treatment.

Desmoplastic small round cell tumour in children and adolescents.

BACKGROUND: Desmoplastic small round cell tumour (DSRCT) is a rare highly aggressive neoplasm, and clinical studies are scarce. PROCEDURE: We report six cases of children and adolescents (median age 14 years, range 6.9-17.5) with DSRCT (5 abdominal, 1 paratesticular) registered by the Italian Cooperative Group (ICG) for soft tissue sarcoma over a 9-year period. Patients received a multidisciplinary treatment, including aggressive initial or delayed surgery and radiotherapy. Chemotherapy regimen was based on the use of ifosfamide, vincristine, dactinomycin, and a few doses of antharacyclines (doxorubicin or epirubicin). RESULTS: Complete surgical resection was possible only for the paratesticular tumour. Among the patients with abdominal lesions, macroscopically radical excision was possible in only one case. All patients received multidrug chemotherapy, and tumour reduction was obtained in the 4 evaluable patients. No relapses were evident in the irradiated fields in the 4 patients who received radiotherapy. Two patients remained progression-free 22 and 63 months after diagnosis, one is in third complete remission, whereas three died 10-25 months after diagnosis. CONCLUSIONS: DSRCT is a chemosensitive tumour, but survival rates remain disappointing despite aggressive multimodality therapy. Our results support surgical tumour removal and radiotherapy to achieve local control. Our experience and a review of the literature suggest that patients with localised abdominal tumours or a paratesticular primary may have a better prognosis.

Malignant bone tumors of the chest wall.

Malignant bone tumors constitute only 0.2% of all tumors. Bone sarcomas occur at a rate approximately one tenth that of sarcomas of the soft tissue. Malignant bone tumors of the chest wall and sternum are even more rare because most bone tumors occur in the long bones or joints. Because of the relative paucity of experience treating these malignancies, progress in successful therapies has been limited. Chondrosarcomas remain the most common bony malignant chest wall lesions and are discussed elsewhere in this issue. Other lesions in descending order of incidence include Ewing's sarcoma, osteosarcoma, malignant fibrous histiocytoma, solitary plasmacytoma, and Askin tumors. This article reviews these remaining five malignant bony chest wall tumors, along with their symptoms, presentations, and current approaches to therapy.

Long-term survival after repeated resections of Askin tumor recurrences.

The case of a 16-year-old boy is reported who underwent surgery for the excision of an Askin tumor and has subsequently undergone six excisions of local Askin tumor recurrences, with follow-up postoperative chemo- and radiotherapy over a 7-year period. The patient continues to survive. As far as can be determined, this patient appears to be the first reported case of long-term survival after repeated resections of local Askin tumor recurrences. It thus may be that postoperative chemo- and radiotherapy after repeated excisions of these local Askin tumor recurrences plays a role in prolonging survival.

[Small-cell sarcoma of the esophagus as a fourth malignancy. Its palliative therapy with argon gas coagulation]. / Kleinzelliges Sarkom des Osophagus als viertes Malignom. Palliative Therapie mit Argongaskoagulation.

HISTORY: A prostatic carcinoma, an early gastric carcinoma and a colon carcinoma had occurred over 15 years in a now 82-year-old patient. He was now admitted because of severe dysphagia. INVESTIGATIONS: Gastroscopy revealed an exophytic tumour of the oesophagus, histologically identified as a small-cell sarcoma. It had caused a 12 cm long severe eccentric stenosis of the oesophagus. Tissue from the previous three tumours were examined immunohistochemically for p-53 gene mutation, but only the oesophageal sarcoma gave positive results. TREATMENT AND COURSE: After part of exophytic tumour had been ablated by argon gas coagulation a prosthetic tube was implanted. Bleeding from erosion of a large metastasis in the gastric fundus was successfully treated by argon gas coagulation 4 months after the previous discharge, but the patient died of the malignancy 1/1 and half months later. CONCLUSIONS: The consecutive occurrence of four different malignant tumours is rare even in advanced age. In this case the malignancies were presumably unrelated and it demonstrates the possibility of removing an eccentric tumour stenosis by argon gas coagulation before implanting a prosthesis.

Preresection chemotherapy improves survival for children with Askin tumors.

OBJECTIVE: To test whether patients with Askin tumor treated with aggressive neoadjuvant chemotherapy have a better clinical outcome. DESIGN: Retrospective case series. SETTING: Pediatric referral center. PATIENTS: All children diagnosed with malignant small-cell tumors of the chest wall (Askin tumor) and treated from 1975 to September 1987 (phase 1, n = 6) and from September 1987 to the present (phase 2, n = 9). MAIN OUTCOME MEASURES: Survival as a function of extent of disease and response to therapy as measured by tumor volume, survival, and recurrence. RESULTS: All phase 2 patients had significant reduction of tumor volume and improved survival by Kaplan-Meier estimates compared with phase 1 patients. No phase 1 patients are still alive. CONCLUSION: Patients with Askin tumor treated with aggressive preresection chemotherapy have smaller tumors to resect and improved survival.

[Askin's tumor in a young adult: a rare occurrence. Apropos one case observed]. / Il tumore di Askin in un giovane adulto: una rara evenienza. A proposito di un caso osservato.

Askin's tumour is a rare malignant small cell neoplasia of the thoracic wall; it most often effects females during childhood and is characterised by limited survival. The authors report a recent case of Askin's tumour in a young adult male. The case was characterised by multiple recidivation but a long survival. The authors discuss its diagnosis and treatment.

Use of human dura in pediatric chest wall reconstruction after tumor resection.

The most difficult aspect of the surgical treatment of chest wall tumors is reconstruction of the large residual defect. Materials that have been used include Marlex, Goretex, Vicryl, bone, metal, and fascia. The authors' successful experience with dehydrated human dura (Tutoplast) for moderate-size defects is described. A large Askin's tumor in a 13-year-old boy required resection of the right posterior aspect of the 9th to 11th ribs and the transverse process of T-10, the 12- x 12-cm thoracic defect was closed with dura. Partial soft-tissue coverage was obtained with the latissimus dorsi muscle. Although a scoliosis secondary to paraspinal muscle resection has developed, the chest wall is stable, without evidence of a flail chest, at 18 months of follow-up. A 6-year-old girl underwent left anterior chest wall resection of three ribs for an epithelioid sarcoma. Human dura and a myocutaneous flap were used for reconstruction, with good functional and cosmetic results at 16 months of follow-up. Dura is simple to use, has low antigenicity, and in experimental studies appears to be incorporated into the tissues, acting as a collagen matrix. For moderate-size chest wall defects, it appears to be an excellent alternative to synthetic prosthesis.