Retroperitoneal Rhabdomyosarcoma Research Articles

Retroperitoneal Pleomorphic Rhabdomyosarcoma in Adult: A Rare Case Report

Background: Rhabdomyosarcoma (RMS) is the most common type of soft tissue sarcoma in children, however, RMS is a rare malignancy in adults. Head and neck are the most common site for RMS, while intrabdominal RMS are rare in adults. Case: We present a rare case of a retroperitoneal abdominal mass, treated surgically with histopathology results of a retroperitoneal RMS. We discuss the clinical presentation, image findings, and treatment for this case. Conclusion: Intraabdominal tumours need to be identified quickly and precisely. CT scan or MRI can help clinicians to determine the staging, therefore plans the best treatment for the patient. In our case, surgery and radiotherapy showed promising outcome. The lack of literature and consensus on a standardized approach to systemic treatment and outcome in retroperitoneal pleomorphic RMS in adults makes our case a rare presentation of rhabdomyosarcoma and thus the need for reporting.

Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome

Costello syndrome (CS) is a rare genetic disorder characterized by distinctive facial appearance, cardiopulmonary complications, severe growth retardation, skin and skeletal defects, developmental delay, and tumor predisposition. CS is caused by heterozygous de novo mutations in the proto-oncogene HRAS, which is a component of the RAS/mitogen-activated protein kinase pathway. Herein, we reviewed the phenotypic and genetic features of 5 Korean patients who were genetically diagnosed with CS. Atrial tachycardia and polyhydramnios, which are important prenatal features for CS, were observed in 4 and 5 patients, respectively. The distinctive coarse facial appearances of the patients and presence of deep palmoplantar creases supported the clinical diagnosis of CS, which was confirmed by HRAS sequence analysis. Extremely poor postnatal growth was observed in all 5 patients. Further, all patients exhibited cardiac abnormalities; left ventricular hypertrophy and hypertrophic cardiomyopathy were observed in 3 patients. All 5 patients suffered from airway problems; 3 of them required intubation right after birth, and 2 of them received tracheostomy. One patient with a p.Gly12Ser mutation was diagnosed with retroperitoneal rhabdomyosarcoma alveolar type at the age of 5 years. Consistent with previous reports, both patients with p.Gly12Cys mutations died within the first year of life due to cardiopulmonary failure. Our study summarizes the characteristics of these 5 Korean patients with CS and, along with previous studies, provides clues for genotype-phenotype correlation in patients with CS.

Age-based disparities in treatment and outcomes of retroperitoneal rhabdomyosarcoma.

Elderly patients (EPs) suffering from retroperitoneal rhabdomyosarcoma (RRMS) carry a considerably poorer prognosis compared to younger patients (YPs). We hypothesized that EPs received less aggressive and comprehensive treatment than YPs, resulting in poorer survival outcomes. All patients diagnosed with RRMS since 1998 in the National Cancer Data Base (NCDB) were reviewed for patient demographics, tumor characteristics, treatment modalities and survival outcomes. Of the 100 patients identified, 35% were ≥65years of age. EPs (aged ≥65years), when compared to YPs (aged <65), were less likely to receive systemic chemotherapy (20% EPs vs 71% YPs, p<0.001) and treatment at an academic center (34% EPs vs 60% YPs, p=0.05), although the frequency of radiation (23% EPs vs 31% YPs, p=0.40) and radical surgery (26% EPs vs 22% YPs, p=0.55) were similar. EPs received treatment more frequently at comprehensive community cancer programs (57%) and had a shorter median distance of travel for care (6.4 vs 13 miles, p=0.009). After adjusting for gender and tumor size, EPs had a hazard ratio of 3.6 (95% CI 1.8-7.2, p<0.001), with a median survival of 2months (interquartile range [IQR] 1-8months) versus 17months for YPs (IQR 8-43months). Altered practice patterns exist for EPs and include reduced use of systemic chemotherapy which may contribute to poorer outcomes for RRMS patients. Although regionalization of care poses challenges, this may offer benefit to the EP group.

Adult rhabdomyosarcoma: Clinical presentation, treatment, and outcome.

Rhabdomyosarcoma (RMS) in adults is a rare malignancy. The objective of our study was to determine presentation, treatment, patterns of failure, and outcome in this disease. A retrospective analysis of 25 patients of adult (>16 years) RMS who were treated at our institute from 2000 to 2009 was carried out. Tumors were classified according to the Intergroup Rhabdomyosarcoma Study (IRS) staging. All patients were treated with multimodality treatment except for three patients who received chemotherapy as the only modality. The median age was 19 years (range, 16-68 years). The most common site was head and neck (52%) followed by extremities (24%), genitourinary (20%), and retroperitoneal RMS (4%). Three out of 25 patients presented with distant metastasis. With a median follow-up of 45 months, the 5-year overall survival (OS) rate was 45%. The 5-year local control (LC) rate was 53%. IRS grouping and complete response after primary therapy were predictors of a better survival. RMS in adults have poor prognosis as compared to childhood RMS. Adult RMS should therefore be treated aggressively with multidisciplinary approach comprising of surgery, radiation, and chemotherapy to achieve cure and prolonged survival.

Ureteral Substitution Using Appendix for a Ureteral Defect Caused by a Retroperitoneal Rhabdomyosarcoma in a Child

A 7-year-old boy was diagnosed with a recurrent embryonal rhabdomyosarcoma in the retroperitoneum. After resection of the mass, direct end-to-end anastomosis of the ureter was not possible owing to the length of the resected segment. Accordingly, we performed ureteral substitution by using the appendix to repair the ureteral defect.

Embryonal Rhabdomyosarcoma of the Retroperitoneum in a Child: A Case Report

Rhabdomyosarcoma is the most common soft tissue sarcoma occurring in children, though retroperitoneal rhabdomyosarcoma is rare. We experienced a case of embryonal rhabdomyosarcoma of the retroperitoneum in a 43-month-old child, and describe the CT , MRI and pathologic findings.

Abdominale Tumoren beim Kind

Twenty-one children with predominantly solid tumours detected by US were also examined by MRI (7 neuroblastomas, 2 Wilms tumours, 3 hepatoblastomas, 2 germinal cell tumours, 1 ganglioneuroblastoma, 1 gangliocytoma, 1 Cushing's adenoma, 1 phaeochromocytoma, 1 retroperitoneal rhabdomyosarcoma, 1 diffuse lymphangiectasia of a kidney, 1 splenunculus). The findings from both methods were compared with respect to the identification of the organ involved, extent of the tumour, effect on neighbouring structures and tissue characteristics. US and MRI were of equal value in defining the origin of the lesion and in demonstrating pathological enlargement of lymph nodes. Exact tumour extent could be better demonstrated with MRI because of the ability to perform multiplanar sections and to demonstrate intrathoracic and intraspinal spread. MRI was superior in 9 cases in demonstrating tumour structure and in 6 cases in the evaluation of vascular involvement and vascular anatomy. MRI is therefore recommended as an additional method to US for diagnosis and for treatment planning.

Imaging of retroperitoneal rhabdomyosarcoma mimicking hypernephroma

Malignant tumors that arise in the perinephric space often present a diagnostic dilemma. These retroperitoneal tumors may resemble renal carcinomas, extrahepatic lymphoma, metastatic disease, or tumors arising in other retroperitoneal organs. We present a case of a patient with a primary retroperitoneal rhabdomyosarcoma who had an extensive diagnostic workup prior to surgical intervention that was thought to be consistent with an aggressive renal cell carcinoma.

Extent of surgery in rhabdomyosarcoma of urogenital structures.

After high inguinal semicastration in group-1 paratesticular rhabdomyosarcoma (RMS), the patient having undergone chemotherapy can be followed closely by CT scanning without retroperitoneal lymphadenectomy. In contrast, retroperitoneal RMS should be operated on as radically as possible after downstaging the tumor mass. In RMS of the female genitalia locally limited organ-preserving surgery is the method of choice. The prognosis is excellent with adjuvant chemotherapy. Only 20% of all bladder RMS arise from the bladder dome or the movable part of the bladder, where primary partial resection including a safety margin of 3 cm of healthy tissue is possible. The majority, however, arising from the submucous tissue of the bladder base, trigonal area and bladder neck, infiltrates the prostatic urethra and the surrounding pelvic fascia. Therefore differentiation between primary bladder or prostate RMS is often doubtful. The current strategy of downstaging by chemotherapy or chemo-radiotherapy followed either by limited organ-preserving surgery or by a wait-and-see policy includes the high risk of residual tumor or local tumor recurrence, which has proved to have the worst prognosis of all. As organ-preserving therapy was recommended as the method of choice, mainly to avoid anterior pelvic exenteration and urinary diversion, the question of advantages in comparison to the risk of tumor recurrence is still open. The routine use of chemoradiotherapy and increasing follow-up has called attention to a variety of chronic sequelae, such as contracted bladders with reduced capacity and upper urinary tract deterioration, which subsequently require secondary urinary diversion. Progress in continent urinary diversion may be an alternative procedure for better life quality.(ABSTRACT TRUNCATED AT 250 WORDS)

Pelvic rhabdomyosarcoma in children

From 1961 to 1986, 29 patients with pelvic rhabdomyosarcoma (including pelvic retroperitoneal rhabdomyosarcoma) were admitted to the paediatric surgical service at the Red Cross Children's Hospital, Cape Town. During the period 1961–1970, the mainstay of treatment was radical surgery with or without subsquent chemotheraphy and radiotherapy. Of the 13 patients, only 2 have survived long-term (15%). From 1971 a new management policy of pre-treatment with chemotherapy and in some instances radiotherapy followed by conservative limited surgery was commenced. Twelve of the 16 patients have survived (75%). One patient with stage III prostatic tumour had treatment with only chemotherapy and radiotherapy and is surviving 8 years after diagnosis; another with a vaginal tumour, also stage III, whose parents refused surgery is alive tumour-free 4 years after similar treatment. Chemotherapy has not only significantly improved survival in pelvic rhabdomyosarcoma but has permitted limited surgery and in some instances has resulted in survival without surgical excision.

Retroperitoneal rhabdomyosarcoma in children. Results of multimodality therapy.

The clinical course of 18 consecutive children treated for primary retroperitoneal rhabdomyosarcoma was reviewed. At diagnosis, 8 patients had regional unresected tumor and 10 patients had disseminated tumor, including 3 patients with documented bone marrow infiltration by tumor. Following combined modality therapy, 14 of 18 patients achieved a greater than 50% tumor response (11 complete and 3 partial responses); 4 patients failed to respond and died of progressive disease within eight months of diagnosis. Among the 14 patients responding, 7 patients had subsequent reextension of active tumor three to 16 months (median, 9 months) following the onset of therapy. Three of the 7 remaining patients died of treatment complications, 2 of intestinal obstruction and 1 of disseminated histoplasmosis, within the first year of therapy and at post-mortem examination had no demonstrable tumor. Four patients are alive and free of active tumor for 10+, 10+, 32+ and 33+ months from diagnosis. Treatment complications have included hematopoietic depression, mucositis, enteritis, intestinal obstruction, excessive weight loss, malnutrition, and life-threatening infection. These results illustrate limitations in current combined modality therapy of retroperitoneal rhabdomyosarcoma and the necessity for future treatment modifications to both reduce morbidity and to improve survival.

Quantitation of tumor volumes and response to therapy with ultrasound B-scans.

A technique employing serial ultrasonic B-scans and a computer for measuring volumes of internal anatomical structures is described. Phantom studies indicate that this method is accurate to within 5% for phantom volumes in the 200–2000 cm3 range. The technique was applied to monitor the spleen-tumor volume in a patient with chronic lymphocytic leukemia and the liver-tumor volume in a patient with retroperitoneal rhabdomyosarcoma. The data suggest that the method is clinically useful for determining normal organ and tumor volumes and for evaluating response to therapy.