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PubMed2003

Rhabdomyosarcoma of the spermatic cord. A case report with review of the literature.

Rhabdomyosarcoma is a rare malignant tumor that may occur in the spermatic cord in childhood. So far, 62 cases have been reported in the English literature. We describe a case of embryonal rhabdomyosarcoma of the spermatic cord in a 15-year-old boy, detailing clinical history, light microscopy, immunohistochemistry and treatment. In order to unquestionably demonstrate the myogenic differentiation of the neoplasm, it was decided to use a monoclonal antibody against MyoD1. The nuclear positivity of this phosphoprotein in the tumor cells confirmed the diagnosis of embryonal rhabdomyosarcoma. Consequently, the patient was treated with right radical orchiectomy and retroperitoneal lymph node dissection (RPLND). The latter is usually required because of the high incidence (more than 50% of cases) of positive retroperitoneal nodes, whereas subsequent adjuvant therapy is occasionally necessary. In the present case, we decided for a careful follow-up on the basis of the small size of the tumor and the absence of metastasis at diagnosis. The patient is alive and free of disease 12 months after surgery.

Adolescent↗
PubMedDate not supplied

Congenital cervical rhabdomyosarcoma arising in one fetus of a twin pregnancy.

OBJECTIVE: To describe a huge congenital cervical rhabdomyosarcoma. METHODS: We were recently confronted with a case of fetal solid neck mass arising in one fetus of a twin pregnancy. Prenatally, the cervical tumor was consistent with teratoma, but it was diagnosed histologically as a rhabdomyosarcoma. Genetic amniocentesis showed a mosaic pattern consisting of 46,XY/46,XY,t(2;8)(q35;q21.2). RESULTS: EXIT procedure was proposed to the parents but declined. The twin with huge cervical tumor died in utero at 35 weeks' gestation due to hydrops fetalis. CONCLUSION: Fetal cervical rhabdomyosarcoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck mass.

Adult↗
PubMed1989

Closely linked loci on the long arm of chromosome 13 flank a specific 2;13 translocation breakpoint in childhood rhabdomyosarcoma.

A specific chromosomal translocation, t(2;13)(q35;q14), is present in tumor cells from about one-half of children with alveolar rhabdomyosarcoma, who generally have widely disseminated disease at diagnosis. Using a series of six DNA probes from five loci previously assigned to bands 13q12----q14, we have localized the translocation breakpoint on chromosome 13 by in situ hybridization. Each probe was used to examine metaphase spreads from two or more rhabdomyosarcoma cell lines that have the t(2;13), as well as from control lymphoblastoid cell metaphases. All six probes bound to chromosome 13q12----q14 in the control cell line, but showed no appreciable hybridization to other sites. With rhabdomyosarcoma metaphases, cDNA clones of the retinoblastoma susceptibility gene (RB1) and the esterase D gene (ESD), as well as the arbitrary genomic fragment 7D2 (D13S10), showed specific hybridization to the normal chromosome 13 and the der(2) marker, but not to the der(13). By contrast, the genomic fragments HU10 (D13S6) and 7F12 (D13S1) hybridized specifically to the normal chromosome 13 and the der(13), but not to the der(2). Thus, the breakpoint of this translocation lies distal to D13S6 and D13S1 and proximal to ESD, RB1, and D13S10. Our data indicate that the locus affected by the translocation breakpoint on chromosome 13, which we have termed RMS, is physically distinct from the RB1 locus and is, in fact, proximal to ESD, which others have placed at least 10(6) bp proximal to RB1. The consistent presence of the der(2) marker chromosome, coupled with occasional loss of the der(13), suggests that the RMS gene, or at least a critical component, moves to chromosome 2 in tumors with this translocation.

Cell Line↗
PubMed1987

Occult metastasis of rhabdomyosarcoma to lymph node with sinus pattern.

Light microscopy of sections from the paraaortic and pelvic lymph nodes of a patient revealed micrometastases with sinus pattern. The diagnosis of metastatic rhabdomyosarcoma was confirmed ultrastructurally by demonstration of actin filaments and Z bands. To our knowledge occult metastases of rhabdomyosarcoma with purely sinus pattern have not been reported previously and diagnosis might be difficult to establish clinically or pathologically. However, recognition of the lymph node involvement changes the clinical staging and therapeutic regimen of this disease. Therefore, rhabdomyosarcoma should be included in the differential diagnosis of lymphadenopathies with sinus pattern. The disorders causing sinus pattern in lymph nodes are briefly reviewed.

Diagnosis, Differential↗
PubMedDate not supplied

Fine needle aspiration cytology of adult perineal rhabdomyosarcoma: a case report.

BACKGROUND: Adult perineal soft tissue sarcomas are rare. Fewer than 30 cases have been reported, and all were diagnosed after surgical resection by histologic examination. Below we report a case in which the diagnosis was established preoperatively by fine needle aspiration (FNA). CASE: A 27-year-old man presented with a firm, midline, perineal mass. Magnetic resonance imaging showed a 3-cm, enhancing mass that was considered neoplastic. FNA biopsy, followed by cytologic examination, revealed moderately cellular aspirates composed of discohesive, small, blue cells with scant cytoplasm, high nuclear/cytoplasmic ratios and pleomorphic nuclei with irregular nuclear contours; uniform, hyperchromatic chromatin; and occasional mitotic figures. Frequent naked nuclei and scattered cells with more abundant, dense cytoplasm and eccentric nuclei were also noted. The diagnosis of rhabdomyosarcoma was favored on FNA and was corroborated by immunohistochemical stains for desmin, myogenin and CD56. Upon surgical resection, the diagnosis of alveolar rhabdomyosarcoma was confirmed histologically and immunophenotypically. CONCLUSION: FNA is a useful tool in diagnosing soft tissue lessions of the perineum, including rare primary tumors, such as adult rhabdomyosarcoma. In this case, early identification avoided incisional biopsy and directed appropriate extirpative surgery and reconstruction considerations.

Adult↗
PubMedDate not supplied

Esophageal rhabdomyosarcoma: report of a case diagnosed by imprint cytology.

BACKGROUND: Primary esophageal rhabdomyosarcoma (PER) is a very rare neoplasm with only 15 cases reported in the literature. Of those, only 1 case underwent a preoperative cytologic evaluation. We report a case of PER with diagnosis by imprint cytology. CASE: A 55-year-old woman presented with dysphagia of 2 months' duration associated with fatigue and weight loss. Clinical and diagnostic imaging investigations revealed a large, submucosal mass lesion located in the lower part of the esophagus. A bite biopsy of the esophageal mass was performed under esophagoscopy. Two imprint smears were made from the biopsied tissue fragment and stained with the May-Grünwald-Giemsa method. The smears revealed abundant, pleomorphic, malignant cells with basophilic cytoplasm. Some spindle-shaped cancer cells showed intracytoplasmic cross-striations, indicating a pleomorphic rhabdomyosarcoma, as confirmed by histologic and immunohistochemical studies of the biopsied tumor tissue and resected tumor. CONCLUSION: The presence of pleomorphic malignant cells with intracytoplasmic cross striations is a characteristic feature of pleomorphic rhabdomyosarcoma.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1992

Detection of creatine kinase isoenzymes as tumoral markers of rhabdomyosarcoma.

We analyzed the expression profile of isoenzymatic fractions of creatine phosphokinase (EC 2.7.3.2) isotypes MM, MB and BB in three cell lines derived from embryonic rhabdomyosarcomas and a normal counterpart cell line. Electrophoretic data showed that the BB fraction was consistently expressed de novo, in contrast with its counterpart in normal tissue. The BB fraction may serve as new tumoral marker for the diagnosis of rhabdomyosarcoma. In addition, the appearance of macrocreatine kinase type-1 in this type of neoplasm may serve to reinforce the diagnosis when rhabdomyosarcoma is suspected.

Biomarkers, Tumor↗
PubMed1990

Rhabdomyosarcoma of the testicular appendage in an infant: case report.

This is a case report of embryonal rhabdomyosarcoma of the epididymal appendage in a 15-month old infant. It is a rare tumor with a good prognosis when treated promptly. The ultrasound examination showed the testicle to be enlarged but hypo-echoic in comparison to the epididymis which was infiltrated with tumor. An inflammatory mass or enlargement of a testicle demands careful diagnosis and appropriate therapy with immediate referral to a urologist if the normal clinical course deviates. Representative images are included. Rhabdomyosarcoma of the testicle or extra testicular scrotal structures is rare. A report in 1983 by Kage et al from Japan revealed two cases of the tumor, however, both were in adult males. This case report is an embryonal rhabdomyosarcoma in a fifteen month old infant which presented with a confusing clinical picture. This case is presented in an effort to alert the clinician to the possibility of a rare, non-germ cell tumor presenting as an inflammatory lesion.

Epididymis↗
PubMed1996

Juvenile rhabdomyosarcomas in two dogs.

Juvenile rhabdomyosarcomas were diagnosed in two young dogs based on the results of histopathology, phosphotungstic acid-hematoxylin stain, immunohistochemistry, and the age of the dogs. One dog, an 11-month-old Rottweiler, had tumor masses in the maxillary gingiva and the urinary bladder. Histologically, the gingival mass was an alveolar type of rhabdomyosarcoma and the urinary bladder mass was an embryonal type. The other dog, a 1.5-year-old Basset Hound, had an embryonal rhabdomyosarcoma involving the oropharynx and the temporal muscles, with metastasis to the regional lymph node and lungs.

Animals↗
PubMed2006

Down-regulation of c-Myc following MEK/ERK inhibition halts the expression of malignant phenotype in rhabdomyosarcoma and in non muscle-derived human tumors.

BACKGROUND: Expression of c-myc proto-oncogene is inappropriate in a wide range of human tumors, and is a downstream target of Ras/Raf/ERK pathway, which promotes c-Myc stability by enhancing c-Myc expression and activity. The aim of this study was to investigate whether the oncogenic phenotype in the human muscle-derived Rhabdomyosarcoma (RD) cell line and in non muscle-derived human tumor cell lines (SW403, IGR39 and PC3) can be blocked by disrupting the c-Myc pathway either by means of pharmacological MEK/ERK inhibition or by direct inactivation of the c-Myc protein. RESULTS: We demonstrate that, in all the tumor cell lines used, the MEK/ERK inhibitor U0126 rapidly induces c-Myc de-phosphorylation, which is followed by a marked reduction in its expression level, by inhibition of proliferation and by reversion of anchorage-independent growth. These data suggest that the targeting of pathways controlling c-Myc expression or stability reverses deregulated growth of different tumor-derived cell lines. Indeed, in RD cells, we found a marked down-regulation of cyclins E2, A and B and CDK2, all of which are known to be targets of c-Myc. Moreover, ectopic MadMyc chimera, a c-Myc function antagonist, causes dramatic growth arrest, CDK and cyclin modulation as well as inhibition of anchorage-independent growth in RD cells, as occurs in U0126-treated cells. In particular, we found that the mere inhibition of c-Myc by MadMyc chimera rescues the myogenic program, MHC expression and the acquisition of the myogenic-like phenotype in RD cells. CONCLUSION: Our data provide evidence of the key role played by the MEK/ERK pathway in the growth arrest and transformation phenotype of Rhabdomyosarcoma and of non muscle-derived tumor cell lines. In fact, MEK/ERK inhibitor, U0126, induces growth arrest, anchorage-dependent growth of these cell lines. In addition, the results of this study demonstrate that the direct inactivation of c-Myc by Mad/Myc chimera rescues myogenic program and leads to the reversal of the Rhabdomyosarcoma phenotype. In conclusion these data strongly suggest that the targeting of c-Myc by means of the MEK inhibitor can be tested as a promising strategy in anti-cancer therapy.

Butadienes↗
PubMed2006

Differential cooperation of oncogenes with p53 and Bax to induce apoptosis in rhabdomyosarcoma.

BACKGROUND: Deregulated expression of oncogenes such as MYC and PAX3-FKHR often occurs in rhabdomyosarcomas. MYC can enhance cell proliferation and apoptosis under specific conditions, whereas PAX3-FKHR has only been described as anti-apoptotic. RESULTS: In order to evaluate how MYC and PAX3-FKHR oncogenes influenced p53-mediated apoptosis, rhabdomyosarcoma cells were developed to independently express MYC and PAX3-FKHR cDNAs. Exogenous wild-type p53 expression in MYC transfected cells resulted in apoptosis, whereas there was only a slight effect in those transfected with PAX3-FKHR. Both oncoproteins induced BAX, but BAX induction alone without expression of wild-type p53 was insufficient to induce apoptosis. Data generated from genetically modified MEFs suggested that expression of all three proteins; MYC, BAX and p53, was required for maximal cell death to occur. CONCLUSION: We conclude that cooperation between p53 and oncoproteins to induce apoptosis is dependent upon the specific oncoprotein expressed and that oncogene-mediated induction of BAX is necessary but insufficient to enhance p53-mediated apoptosis. These data demonstrate a novel relationship between MYC and p53-dependent apoptosis, independent of the ability of MYC to induce p53 that may be important in transformed cells other than rhabdomyosarcoma.

Animals↗
PubMed2002

PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.

PURPOSE: Alveolar rhabdomyosarcoma (ARMS) is an aggressive soft tissue malignancy of children and adolescents. Most ARMS patients express PAX3-FKHR or PAX7-FKHR gene fusions resulting from t(2;13) or t(1;13) translocations, respectively. We wished to confirm the diagnostic specificity of gene fusion detection in a large cohort of RMS patients and to evaluate whether these alterations influence clinical outcome in ARMS. PATIENTS AND METHODS: We determined PAX3-FKHR or PAX7-FKHR fusion status in 171 childhood rhabdomyosarcoma (RMS) patients entered onto the Intergroup Rhabdomyosarcoma Study IV, including 78 ARMS patients, using established reverse transcriptase polymerase chain reaction assays. All patients received central pathologic review and were treated using uniform protocols, allowing for meaningful outcome analysis. We examined the relationship between gene fusion status and clinical outcome in the ARMS cohort. RESULTS: PAX3-FKHR and PAX7-FKHR fusion transcripts were detected in 55% and 22% of ARMS patients, respectively; 23% were fusion-negative. All other RMS patients lacked transcripts, confirming the specificity of these alterations for ARMS. Fusion status was not associated with outcome differences in patients with locoregional ARMS. However, in patients presenting with metastatic disease, there was a striking difference in outcome between PAX7-FKHR and PAX3-FKHR patient groups (estimated 4-year overall survival rate of 75% for PAX7-FKHR v 8% for PAX3-FKHR; P =.0015). Multivariate analysis demonstrated a significantly increased risk of failure (P =.025) and death (P =.019) in patients with metastatic disease if their tumors expressed PAX3-FKHR. Among metastatic ARMS, bone marrow involvement was significantly higher in PAX3-FKHR-positive patients. CONCLUSION: Not only are PAX-FKHR fusion transcripts specific for ARMS, but expression of PAX3-FKHR and PAX7-FKHR identifies a very high-risk subgroup and a favorable outcome subgroup, respectively, among patients presenting with metastatic ARMS.

Adolescent↗
PubMed2004

Group II rhabdomyosarcoma and rhabdomyosarcomalike tumors: is radiotherapy necessary?

PURPOSE: In the prospective Cooperative Soft Tissue Sarcoma Study Group (CWS) 81, 86, 91, and 96 trials, radiotherapy was omitted in some patients with rhabdomyosarcoma and rhabdomyosarcoma-like tumors within Intergroup Rhabdomyosarcoma Study (IRS) group II. This analysis evaluates whether subgroups can be defined for which radiotherapy is not necessary. PATIENTS AND METHODS: Two hundred three patients who were registered between January 1981 and December 1998 were eligible for evaluation. Radiotherapy was given depending on tumor location, histology, and whether a secondary complete resection could be performed. The recommended radiation doses ranged from 32 to 54 Gy. RESULTS: One hundred ten patients did receive and 93 patients did not receive radiotherapy. The calculated local control after 5 years was 83% with and 65% without radiotherapy (P <.004). Event-free survival (EFS) at 5 years was 76% and 58%, respectively (P <.005). Overall survival (OS) at 5 years was 84% and 77% (P = not significant). The differences in local control were significant for the subgroups of irradiated patients with favorable histology, favorable site, and initial tumor size of less than 5 cm. A trend for improved local control with irradiation was observed for patients with unfavorable site, unfavorable histology, and large primary tumors. EFS was significantly improved for irradiated patients who had unfavorable histology, both favorable and unfavorable tumor sites, and small initial tumors. OS was significantly improved for patients with unfavorable histology through radiation. CONCLUSION: Local control and EFS in group II patients are improved with radiotherapy. No subgroup could be defined for which the omission of radiotherapy produced outcome equivalent to that of patients who were irradiated.

Adolescent↗
PubMed2002

PAX3/forkhead homolog in rhabdomyosarcoma oncoprotein activates glucose transporter 4 gene expression in vivo and in vitro.

Increased levels of glucose uptake and increased expression of the glucose transporter (GLUT) genes are characteristic features of tumors. In the muscle-derived tumor alveolar rhabdomyosarcoma (ARMS), a chromosomal translocation t(2:13) generates the PAX3/forkhead homolog in rhabdomyosarcoma (FKHR) oncoprotein. In muscle tissues, glucose transport is primarily mediated by GLUT4. However, the mechanisms that regulate GLUT4 gene expression in tumor tissues are largely unknown. Therefore, we evaluated the role of PAX3/FKHR in the regulation of GLUT4 gene expression in muscle tumorigenesis. GLUT4 mRNA and protein were detected in ARMS-derived human biopsies and in ARMS-derived RH30 myoblasts, which both express the PAX3/FKHR chimeric protein, but not in either C2C12 or embryonal rhabdomyosarcoma-derived myoblasts. GLUT4 was functionally active in RH30 cells, because insulin induced a 1.4-fold stimulation of basal 2-deoxyglucose uptake rates. Coexpression of PAX3/FKHR increased basal transcriptional activity from a GLUT4 promoter reporter (GLUT4-P) in C2C12, SaOS-2, and Chinese hamster ovary-K1 cells in a dose-dependent and tissue-specific manner. PAX3/FKHR mutants with deletions in either the homeodomain (DeltaHD) or the FKHR-derived activation domain (DeltaFKHR), or in which the PAX3-derived paired domain (PD) was point-mutated (PD-R56L), were unable to activate GLUT4-P. Progressive 5'-deletion analysis of GLUT4-P further identified a specific region of the promoter, -66/+163 bp, which retained about 65% of the full transactivation effect. EMSA studies established that the PAX3/FKHR protein directly and specifically binds to this region and to a shorter fragment, -4/+36 bp, that contains potential binding sites for HD and PD, but not to a -4/+36-bp fragment whose HD and PD sites have been mutated. Thus, the functional interaction of PAX3/FKHR with GLUT4-P appears to require all of the functional domains of PAX3/FKHR, as well as a -4/+36-bp region within the GLUT4 promoter. Taken together, the data suggest that the GLUT4 gene is a downstream target of PAX3/FKHR and that GLUT4 is aberrantly transactivated by this oncoprotein both in vivo and in vitro.

Animals↗
PubMed1985

Primary rhabdomyosarcoma of the central nervous system: case report.

A case of a primary rhabdomyosarcoma that appeared to be arising from the filum terminale in a 48-year-old man is reported. The histological diagnosis of rhabdomyosarcoma was supported using immunocytochemical methods. Twenty-two cases of primary rhabdomyosarcoma of the central nervous system previously reported in the literature are reviewed briefly. The possible origin of these tumors from neuroectoderm is discussed.

Cauda Equina↗
PubMed2004

Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma.

We evaluated amplification and overrepresentation of CDK4, MDM2, GLI and SAS genes of the 12q13-15 region, in a group of soft tissue sarcomas including leiomyosarcomas (LMS), alveolar rhabdomyosarcomas (ARMS) and embryonal (anaplastic and classic variants) rhabdomyosarcomas (ERMS), to ascertain genomic alterations and possible differences within histologic subtypes of rhabdomyosarcoma (RMS). Quantitative real-time PCR was performed on DNA samples from 29 LMS, 9 ARMS, 7 anaplastic ERMS and 6 classic ERMS. Alteration of one or more of the 12q13-15 genes was revealed in 13/29 LMS (45%) and 12/22 RMS (54%) including 5/9 ARMS (56%), 5/7 anaplastic ERMS (71%) and 2/6 classic ERMS (33%). The potential importance of overproduction of protein products in neoplastic development, led us also to study a possible high expression of cdk4, mdm2 and gli proteins in immunohistochemical staining experiments on paraffin-embedded tissue samples of the same cases. Among LMS and RMS most cases with CDK4, MDM2 and GLI gene alterations also showed a simultaneous high expression of the relative protein. In summary, these results indicate that amplification or overerepresentation of genes at 12q13-15 region involve both LMS and RMS. Moreover these genes alterations reveal predominantly in the alveolar and in the anaplastic variant of the embryonal subtype. These two seem to have a more similar behavior than anaplastic and classic embryonal that are classified in the same subtype.

Adenocarcinoma, Bronchiolo-Alveolar↗
PubMed1998

Intraperitoneal rhabdomyosarcoma in children: incidence and imaging characteristics on CT.

OBJECTIVE: The purpose of this study was to determine the incidence and CT imaging features of intraperitoneal rhabdomyosarcoma in children. CONCLUSION: Approximately 10% of children with rhabdomyosarcoma may have intraperitoneal neoplastic involvement either at the time of diagnosis or subsequently. On CT, intraperitoneal rhabdomyosarcomas are associated with ascites, enhancing nodules, masses, a pseudomyxoma peritonei-like appearance, and omental caking.

Adolescent↗
PubMed1976

Bone marrow metastases in disseminated alveolar rhabdomyosarcoma: case report with ultrastructural study and review.

A case of desseminated alveolar rhabdomyosarcoma in an 18-year-old male with leuco-erythroblastic anaemia is described. Numerous bizarre malignant cells, including frequent multinucleated giant cells, were seen in bone marrow aspirates, and osteolytic lesions appeared late in the clinical course. The primary site of the neoplasm remained undertermined during life and also at necropsy, which revealed minute pulmonary metastases and extensive lymph nodal, pleural and skeletal deposits. The diagnosis was confirmed on necropsy tissue by ultrastructural examination which demonstrated numerous thin (5 nm) and thick (15 nm) intracytoplasmic filaments in tumour cells, sometimes organized in bundles; scattered dense Z-band-like bodies, and rod-shaped structures were also seen. The fine structure of the rhabdomyosarcoma in the present case is compared with previous ultrastructural studies. Elongated, thick intracytoplasmic filaments whose diameter corresponds to that of myosin myofilaments are strong evidence for rhabdomyoblastic differentiation and are considered to be the sine qua non of a positive electron microscopic diagnosis of rhabdomyosarcoma. Orgaized bundles of filaments and Z-band-like dense bodies are usually present, and rod-shaped structures are found infrequently, but none of these are necessary for the ultrastructural diagnosis.

Adolescent↗