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PubMed1997

Common and variant gene fusions predict distinct clinical phenotypes in rhabdomyosarcoma.

PURPOSE: We evaluated the clinical features of the common PAX3-FKHR and variant PAX7-FKHR gene fusions observed in rhabdomyosarcoma. PATIENTS AND METHODS: Reverse-transcriptase polymerase chain reaction (RT-PCR) assays were used to detect the gene fusions in 34 cases of rhabdomyosarcoma. Clinical data were obtained retrospectively and compared with the molecular results. RESULTS: The PAX3-FKHR and PAX7-FKHR gene fusions were present in tumors from 18 and 16 patients, respectively. The group with a PAX7-FKHR fusion was younger (P = .01) and presented more often with an extremity lesion (82% v 22%; P = .001). PAX7-FKHR tumors were more often localized than PAX3-FKHR tumors (P = .03). In patients with metastatic disease at diagnosis, the patterns were different: PAX7-FKHR patients had metastatic disease that involved only bone (n = 2) and distant nodes (n = 2), while the PAX3-FKHR group had multiple sites involved, including bone (n = 7), marrow (n = 7), lungs (n = 3), distant nodes (n = 2), skin (n = 1), and brain (n = 1). No significant difference in relapse rate was observed. A trend toward improved overall survival in the PAX7-FKHR group was noted (P = .09). Event-free survival for this PAX7-FKHR group was significantly longer (P = .04). CONCLUSION: Our results suggest that the common PAX3-FKHR and the variant PAX7-FKHR fusions are associated with distinct clinical phenotypes. Identification of fusion gene status may be a useful diagnostic tool in rhabdomyosarcoma.

Adolescent↗
PubMed2005

Expression and activity of vascular endothelial growth factor and metalloproteinases in alveolar and embryonal rhabdomyosarcoma cell lines.

Rhabdomyosarcoma (RMS) is a malignant tumour of skeletal muscle origin which includes two major histological subtypes: alveolar rhabdomyosarcoma (ARMS), the more aggressive, and embryonal rhabdomyosarcoma (ERMS). In order to establish whether the higher metastatic potential of ARMS cells may depend on differential expression of specific matrix metalloproteinases (MMPs) and angiogenesis-related factors, we studied the expression of MMP-2, MT1-MMP, TIMP-2, VEGF and VEGF receptors in four ARMS (RH30, RH4, RH18, RH28), three ERMS (RD, RH36, SMS-CTR) and one undifferentiated sarcoma cell line (A204). Semi-quantitative analysis of MMP-2 revealed high levels of expression in 3 out of 4 ARMS cell lines whereas, among ERMS, only RH36 showed comparable levels of the protease. TIMP-2 and MT1-MMP showed no significant differences among cell lines. in vitro invasiveness was also evaluated. The MMP-2-overexpressing RH30 cells were more invasive than RD cells, which expressed low levels of MMP-2. Exogenous expression of the ARMS specific PAX3-FKHR chimeric protein in RD cells increased MMP-2 activity and invasiveness. Of the three main VEGF isoforms only VEGF165 and VEGF121 were detected in RMS lines: ARMS expressed both isoforms, whereas the ERMS cell line SMS-CTR and the undifferentiated sarcoma cell line A204 showed the VEGF121 isoform only. All RMS cell lines expressed VEGFR-1 at mRNA as well as at protein level. The VEGFR-2, on the contrary, was undetectable with the sole exception of the RH28 cell line. Overall, our data suggest that a high level of MMP-2 protein and VEGF/VEGFR expression may contribute to the metastatic phenotype of ARMS cells and that exogenously induced PAX3-FKHR expression increases MMP-2 secretion and invasive capability of RMS cells.

Blotting, Western↗
PubMed1986

Embryonal rhabdomyosarcoma of the conjunctiva. A clinicopathologic and immunohistochemical study.

Rhabdomyosarcoma of the conjunctiva is a rare lesion, with few previously reported cases. We have observed such a tumor occurring in a 16-year-old girl. The clinical and pathologic entities to be considered in differential diagnosis in such cases are several; in this circumstance, immunohistologic reactivity for desmin and myoglobin (two muscle-related proteins) allows a definitive interpretation of rhabdomyosarcoma to be made. This article documents the clinicopathologic features of the epibulbar rhabdomyosarcoma seen in our patient and discusses the immunocytochemical characteristics of myogenic tumors in general, in the context of ocular neoplasia.

Adolescent↗
PubMed1976

Laryngeal rhabdomyosarcoma.

Laryngeal rhabdomyosarcomas are very rare, extremely malignant tumors. Approximately half of the reported cases have occurred in children. Diagnosis may be difficult, and adequate biopsy material is crucial in the identification of these lesions. Unil recently, rhabdomyosarcomas carried a dismal prognosis; however, combined treatment with surgery, irradiation, and triple chemotherapy appears to have improved the outlook. This should probably be the treatment for laryngeal rhabdomyosarcomas, and was successfully used in the case reported herein.

Child↗
PubMed1978

Primary tumors of the external and middle ear. III. A clinicopathologic study of embryonal rhabdomyosarcoma.

Embryonal rhabdomyosarcoma of the middle ear-mastoid is a highly lethal neoplasm of childhood in most cases, which clinically simulates a chronic infection. Extensive hemorrhage and necrosis in the biopsy specimen may obscure and often delay the diagnosis. Two of the six embryonal rhabdomyosarcomas in this study showed histologic evidence of differentiation. These same two patients were the only long-term survivors. Similar examples of "differentiated" embryonal rhabdomyosarcomas of the middle ear-mastoid with prolonged survival have been recorded individually in the literature. Therapeutic implications of this finding have been discussed.

Child↗
PubMed1980

Temporal bone findings in rhabdomyosarcoma with predominantly petrous involvement.

Temporal bone rhabdomyosarcomas are rare tumors that occur almost exclusively in children. They arise most commonly in the middle ear, from which they extend through the mastoid and petrous portions of the temporal bone, eventually invading the cranium. We report the histopathologic findings of a rhabdomyosarcoma with anterior and medial displacement, predominantly involving the petrous bone. Recognition and separate study of this type of tumor is clinically important. Predominantly petrosal rhabdomyosarcomas are less prevalent than similar lesions with lateral expansion and tend to develop significant ear symptoms late in the course of the disease. When first diagnosed, these lesions usually exhibit signs of intracranial extension, and consequently are less amenable to treatment and are more rapidly fatal.

Child↗
PubMed1997

Undifferentiated rhabdomyosarcoma with lymphoid phenotype expression.

Poorly differentiated rhabdomyosarcomas are traditionally distinguished from lymphomas by their absence of lymphoid markers such as immunoglobulin or CD20 expression. We have encountered three alveolar rhabdomyosarcomas that were initially diagnosed as lymphoid neoplasms because of the expression of a lymphocytic phenotype in morphologically undifferentiated tumor cells. Subsequent cytogenetic analysis revealed a t(2; 13) in two cases. All cases recurred in the chest wall and showed positivity for muscle markers, such as muscle-specific actin, myoglobin, MyoD1, and/or desmin on subsequent immunohistochemistry. The findings in these three cases lead us to conclude that the presence of a lymphoid phenotype does not absolutely exclude the diagnosis of rhabdomyosarcoma.

Adolescent↗
PubMed1999

Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis.

BACKGROUND: Asymmetry of the limbs (conventionally known as hemihypertrophy) is one of the overgrowth syndromes occurring sporadically in the general population at a frequency of approximately 1:86,000. Hemihypertrophy is also reported as part of the Beckwith-Wiedemann syndrome which has as its cardinal features omphalocele, macroglossia and gigantism with hypoglycemia, organomegaly, renal anomalies, hemihypertrophy, and embryonal tumors occurring less frequently. Various neoplasms are also associated with isolated hemihypertrophy. Wilms tumor, adrenocortical carcinoma, and hepatoblastoma are the most frequent. Rhabdomyosarcoma, neuroblastoma, phaeochromocytoma, and undifferentiated sarcoma of the lung are encountered only rarely. Loss of heterozygosity (LOH) of chromosome 11p15.5 is strongly associated with childhood embryonal tumors, particularly Wilms tumor, hepatoblastoma, and rhabdomyosarcoma. PROCEDURE AND RESULTS: In this article, we describe an adolescent male with congenital asymmetry of the lower limbs who presented with a large poorly differentiated pelvic sarcoma. Conventional histologic, immunohistochemical, and ultrastructural studies of this tumor were insufficient for accurate subclassfication. However, positive staining for MyoD1 (a recently identified embryonically expressed marker of muscle differentiation) and LOH at the tyrosine hydroxylase locus of chromosome 11p15.5 by molecular analysis favored the diagnosis of embryonal rhabdomyosarcoma over an undifferentiated sarcoma. CONCLUSIONS: This case stresses the importance of pursuing clinical findings when they occur in conditions with an increased risk of developing cancer, which in this case was asymmetry of a limb. Also illustrated by this patient is the need for early consideration of molecular diagnostic tests where available, to refine an uncertain pathologic diagnosis that may ultimately have an impact on treatment and prognosis.

Adolescent↗
PubMed1997

Chest wall rhabdomyosarcoma.

BACKGROUND: Rhabdomyosarcoma is the most common soft tissue sarcoma in the pediatric age group. The primary tumor site is an important prognostic determinant. Axial lesions are associated with decreased survival and provide a clinical challenge. METHODS: A retrospective analysis of the authors' institutional experience between 1972 and 1996 was performed. Patients were from a data base of 302 consecutive cases. RESULTS: Fifteen consecutive patients with chest wall rhabdomyosarcoma were identified. The median age was 16 years (range, 6 months-25 years). Median follow-up was 6.6 years (range, 10 months-18.5 years). Nine patients presented with a mass, six with pain, two with respiratory distress, and one with ulnar neuropathy. The median lesion size was 7 cm (range, 3-16 cm). A surgical procedure was the initial therapy for 13 of 15 patients. Fourteen patients received radiation therapy with a median dose of 4400 cGy. All but one were included in institutional-based trials using multiagent chemotherapy. At last follow-up, 10 patients were alive and disease free, with a median survival of 123 months (range, 51-221 months). Seven of ten survivors underwent a complete resection as their initial therapy. There was no surgical mortality, and only two patients had treatment-related complications. Of the five patients who died, two underwent complete resection as their initial therapy. All five patients had invasive tumors. Four were > 10 cm, 3 were of alveolar subtype, and 2 were embryonal. CONCLUSIONS: Complete resection of chest wall rhabdomyosarcoma is recommended. However, survival is possible for patients with microscopically positive surgical margins with the addition of chemotherapy and radiation.

Adolescent↗
PubMed1997

Pleural effusion cytology of embryonal rhabdomyosarcoma.

This case report concerns an embryonal rhabdomyosarcoma of the testis in a 31-yr-old white male patient who underwent radical left orchiectomy, followed by combined irradiation and chemotherapy, and who 2 yr later presented with dyspnea at rest, nonproductive cough, and lower back pain for 1 wk. Chest radiographs demonstrated a bilateral pleural effusion and diffuse infiltrating lesion of the pleurae, mimicking a mesothelioma. The pleural fluid displayed noncohesive, malignant, small, round cells about 2-5 times larger than mature lymphocytes. They had large, darkly stained, pleomorphic nuclei and bubbly cytoplasm with poorly defined borders. The diagnosis of embryonal rhabdomyosarcoma was supported by a positive myosin immunostaining and ultrastructural findings of intracytoplasmic actin and myosin-type microfilaments. Our case is also notable in that the tumor was a pure rhabdomyosarcoma involving a testicular origin, and the patient is the oldest reported in the literature.

Adult↗
PubMed1999

Rhabdomyosarcoma in a child with massive pleural effusion: cytological diagnosis from pleural fluid.

We report on a case of embryonal rhabdomyosarcoma in an 11-yr-old boy investigated for mild chest pain after trauma. Chest radiography showed a massive right pleural effusion. Cytological analysis of the pleural fluid demonstrated the presence of malignant small undifferentiated cells. The rhabdomyoblastic nature of the cells was confirmed by positive immunostains of HHf35 actin, desmin, and skeletal muscle myosin; histological examination of a core biopsy confirmed the diagnosis of rhabdomyosarcoma. Computed tomography and gallium scan revealed the presence of an extensive anterior and lower chest wall mass involving the mediastinum, as well as retroperitoneal lymphadenopathy. Massive pleural effusion is a frequent presentation in malignant disease, but is rare in rhabdomyosarcoma. The immunochemical stain studies performed on cytological smears in this case proved to be very useful for making the definitive and accurate diagnosis. Diagn. Cytopathol. 1999;21:125-128.

Child↗
PubMed1982

Extremity lesions in the Intergroup Rhabdomyosarcoma Study (IRS-I): a preliminary report.

The sites in which rhabdomyosarcoma occurs most frequently in children and young adults are the head and neck, genitourinary tract, and the extremities. Among these three sites, tumors of the extremities have been associated with the highest relapse rate and lowest survival rate in patients treated by protocols of the Intergroup Rhabdomyosarcoma Study (IRS). In five of six patients treated by primary extremity amputation, tumor recurred. Seven of 21 patients in Clinical Group I (completely resected tumors), and 9 of 27 patients in Clinical Group II (patients with gross tumor excision but positive lymph nodes, "microscopic residual" disease, or extension beyond the muscle of origin) had relapse. Thirteen of 18 patients (72%) in Clinical Group III (gross residual disease) responded to a chemotherapy-radiotherapy regimen, but ten have subsequently had relapses; and 13 of 18 are dead. Of 30 patients in Clinical Group IV (disseminated disease on entry), 15 initially responded to chemotherapy, but 25 of 30 are dead. The period of surveillance is 2 1/2 to 7 1/2 years, with a mean of 46.3 months at least examination. Increased rates of relapse were seen in patients with extremity tumors, as opposed to tumors in other sites, irrespective of the specific IRS chemotherapy-radiotherapy regimen employed. In Clinical Group I (nonamputation), relapse rates by histologic subtype of rhabdomyosarcoma were alveolar subtype, 5/8; embryonal, 1/7; and all other subtypes, 1/6. Clinical Group II, relapse rates were alveolar, 6/12; embryonal, 5/11; all other subtypes, 3/10.

Amputation, Surgical↗
PubMed1982

Immunohistochemistry of soft tissue tumors. Myoglobin as a tumor marker for rhabdomyosarcoma.

Myoglobin, found exclusively in striated muscle, can be considered a fetal antigen. This study investigated its usefulness as a tumor marker for rhabdomyosarcoma (RMS) using an immunoperoxidase technique. Eight-nine percent (89%) or 27 rhabdomyosarcomas contained immunoreactive myoglobin. In contrast, all other soft tissue tumors (54), carcinomas (10), and numerous normal tissues including smooth muscle were negative. Among RMS, staining correlated directly with cytoplasmic differentiation regardless of histologic type. Importantly, six of nine small cell RMS with no initially appreciated cytoplasm were positive, although focally. Since the three negative RMS had only limited tissue available for study, it remains possible that all RMS would exhibit rare positivity if sizeable specimens were tested. Myoglobin should be considered an extremely sensitive and specific tissue tumor marker for rhabdomyosarcoma of considerable clinical importance.

Adult↗
PubMed1988

Clinical staging and treatment results in rhabdomyosarcoma of the female genital tract among children and adolescents.

From 1972 to 1984, 47 children and adolescents with primary tumors of the female genital tract were treated with eight different Intergroup Rhabdomyosarcoma Study (IRS I-II) protocols. These included patients with vaginal (28), uterine (ten), or vulval (nine) rhabdomyosarcoma or undifferentiated sarcomas. The mean age of patients with primary vaginal tumors was younger than 2 years. All were of the embryonal histologic subtype. The majority of these patients were treated with initial chemotherapy (vincristine, dactinomycin, +/- cyclophosphamide, +/- Adriamycin [(ADR) doxorubicin]) followed by delayed hysterectomy and/or partial vaginectomy. Among 26 patients with localized vaginal tumors, there have been six relapses resulting in one tumor-related death and one therapy-related death. The five patients with nonfatal relapse have been disease-free for from 2.5 to 6.5 years (mean, 4.4 years) since salvage therapy was commenced. The 19 patients without relapse have been continuously disease-free for 1.5 to 12 years (mean, 5.34 years: median, 6 years). No patient that received ADR initially relapsed. Ten patients, with a mean age greater than 13 years, had primary uterine sarcomas and were treated by the same chemotherapy regimens. Six with polypoid localized lesions, removed before chemotherapy, have remained disease-free for 2.5 to 6.5 years. Four, with more extensive local lesions or disseminated disease, treated with chemotherapy only, died 2 to 11 months from diagnosis. Nine patients with rhabdomyosarcomas of the vulva (age, 1-19 years) were managed by the same chemotherapy regimens +/- radiotherapy. Resection was carried out initially or after chemotherapy. Eight of these have been disease-free from 4 to 10 years (mean, 6.4 years); and one is alive with probable disease at 2.5 years.

Adolescent↗
PubMed1988

Disease patterns and survival rate in children with metastatic soft-tissue sarcoma. A report from the Intergroup Rhabdomyosarcoma Study (IRS)-I.

The patterns of disease extent, response to treatment, and survival rates were examined in 129 children registered as metastatic (Group IV) soft-tissue sarcoma patients on the Intergroup Rhabdomyosarcoma Study (IRS)-I protocol from November 1972 through October 1978. The patients' ages at diagnosis ranged from 3 months to 21 years (median, 10.5 years); 72 were male patients and 57 were female patients (male-to-female ratio, 1.3:1). The tumor arose in an extremity in 34 patients, the head and neck (exclusive of the orbit) in 27, the genitourinary tract in 25, the retroperitoneum or pelvis in 14, the trunk in 12, the intrathoracic region in nine, the hepatobiliary system in four, the perineum in two, and the orbit in two patients. The histologic types of soft-tissue sarcoma confirmed by the pathology review committee were embryonal rhabdomyosarcoma in 68 patients, alveolar rhabdomyosarcoma in 41, undifferentiated sarcoma in 14, embryonal-botryoid in two, pleomorphic in one patient, and other sarcoma in three patients. Of 105 patients who were confirmed in Group IV and had complete information concerning sites of metastatic deposits, 53 patients presented with metastases restricted to only one anatomic region or tissue; the other 52 had diffuse metastases. The most common sites of distant tumor deposits were the lungs, bone marrow, and other soft tissues. After treatment with vincristine, dactinomycin, and cyclophosphamide with or without Adriamycin (Adria Laboratories, Inc., Columbus, OH) and radiation therapy, 65 (50%) of the 129 eligible patients achieved complete disappearance of all detectable tumor. The likelihood of achieving and maintaining a complete response for 2 years was highest among patients whose tumors originated in the genitourinary tract, retroperitoneum-pelvis, or the hepatobiliary or perineum regions. Thirteen of these 45 children (29%) are alive and disease-free at a minimum of 2 years after initiation of treatment. Only 10 of the other 84 (8%) are surviving disease-free at 2 years (P = 0.02). The presence of restricted rather than diffuse metastases at diagnosis (P = 0.02) was the only other characteristic significantly related to long-term complete remissions. One hundred and two patients (79%) died at a median of 47 weeks after diagnosis, 92 from sarcoma and ten from other causes.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1989

Genitourinary rhabdomyosarcoma in children.

Although rhabdomyosarcoma of the genitourinary tract occurs infrequently in children, it presents a challenging problem to the surgeon, radiotherapist, and oncologist. Thirty-six children with genitourinary rhabdomyosarcoma were treated at our institutions from 1957 to 1985. The primary site of tumor involved the bladder, prostate, or both in 15 patients, the paratesticular structures in 12, and female reproductive organs in nine. Although treatment modalities and philosophies of care varied over the past 27 years, the majority of patients were treated with a combination of surgery, chemotherapy, and radiation therapy. The event-free survival for all patients is 74%. Patients with paratesticular tumors had the best prognosis (88% event-free survival). Regional nodal radiation therapy is not necessary in this favorable group if the retroperitoneal lymph node dissection is negative. Of 15 children with bladder/prostate tumors nine had initial conservative surgery. Of these nine six are long-term survivors, but only three patients have intact bladders. The girls with tumors of the reproductive organs had an event-free survival of 63%; all patients in this group had hysterectomies. Chemotherapy and radiotherapy have not substituted for radical surgical procedures in most children with bladder or prostate rhabdomyosarcomas. Innovative therapeutic approaches are necessary for this group of patients.

Adolescent↗
PubMed1989

Alveolar rhabdomyosarcoma metastatic to the ovary. A report of two cases and a discussion of the differential diagnosis of small cell malignant tumors of the ovary.

Two young women with alveolar rhabdomyosarcoma metastatic to the ovary are reported. In each case, the ovarian involvement was detected within a few weeks of the discovery of a soft tissue mass by the patient. Symptoms attributable to the ovarian tumor dominated the initial clinical picture in one case. In the other case, the soft tissue mass was not appreciated by the treating physicians until after the diagnosis of rhabdomyosarcoma had been established by examination of the ovarian tumor. The ovarian tumor was unilateral in one case and bilateral in the other. One primary site was the right foot and the other primary site was the left forearm. These cases illustrate that metastatic alveolar rhabdomyosarcoma rarely enters into the differential diagnosis of a small cell malignant tumor of the ovary. Both patients experienced progression of their disease and died, despite aggressive chemotherapy, within 1 year of presentation.

Adolescent↗
PubMed1991

Multidisciplinary treatment of primary orbital rhabdomyosarcoma. A single-institution experience.

Orbital rhabdomyosarcoma accounts for one-fourth of the primary tumors in the head and neck region. Modern treatment modalities have led to a 2-year survival rate of about 90% in these patients. However, new therapeutic trials are designed to reduce complications and salvage more than 90% of orbital cases. Between 1979 and 1990, 12 children affected by primary orbital rhabdomyosarcoma have been diagnosed and treated at the University of Naples. Ten of them have been uniformly treated by biopsy, followed by immediate radiation and combined chemotherapy. All 12 patients are alive and free of detectable disease, from a minimum of 7 months to a maximum of 123 months after diagnosis. In all children, ocular structures have been spared and the complications observed until now have been few. The above results suggest that the association of immediate radiation therapy and chemotherapy might represent an optimal tool for treatment of orbital rhabdomyosarcoma.

Adolescent↗