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PubMed2004

Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder resulting from mutations in the NBS1 gene, which encodes for the DNA double strand break repair protein nibrin. NBS is clinically characterized by microcephaly, dysmorphic features, immunodeficiency, and increased susceptibility to malignancy, mainly of lymphoid origin. Here, we describe a 7-year-old girl with NBS who is homozygous for the NBS1 698del4 mutation. She had been diagnosed with perianal rhabdomyosarcoma (RMS) and experienced severe toxicity from chemotherapy. RMS arising perianally is extremely uncommon but has been previously described in two cases with NBS. The strong association of perianal RMS with NBS should, therefore, be considered when confronted with a perianal RMS, as this carries important clinical implications in terms of potential need for therapy modification and follow up investigations. In addition, it suggests a role for the NBS1 gene and the nibrin dependent pathway in the pathogenesis of RMS, especially those arising perianally.

Abnormalities, Multiple↗
PubMed2005

Multimodal genetic diagnosis of solid variant alveolar rhabdomyosarcoma.

The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(1;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes. A solid variant of ARMS that is morphologically indistinguishable from ERMS has been described recently. We present two cases with an initial histopathologic diagnosis of ERMS in which the combined findings by cytogenetic, reverse-transcriptase polymerase chain reaction (RT-PCR), and comparative genomic hybridization (CGH) analyses demonstrate that both tumors were in fact the solid variant of ARMS. The cytogenetic analysis of patient 1 revealed a t(2;13)(q35;q14) and the RT-PCR study detected the corresponding PAX3-FKHR chimeric transcript. In patient 2, the cytogenetic finding of multiple trisomies was compatible with the initial histopathologic diagnosis of ERMS, but the finding of a PAX7-FKHR fusion transcript by RT-PCR pointed to the diagnosis of ARMS. Interestingly, the CGH findings of this case reconciled the molecular and cytogenetic data by detecting, in addition to the trisomies, amplification of chromosomal bands 1p36 and 13q14, where the PAX7 and FKHR genes are located, respectively. Our data indicate that this multimodal genetic analysis could be important for the differential diagnosis of these tumors. Furthermore, our findings and previous studies indicate that there are no apparent genetic differences between solid variant and typical ARMS.

Base Sequence↗
PubMed2006

Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 1 in 3,500 individuals worldwide. Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients. We report two cases of NF1 with RMS. The first is that of an infant with overlapping phenotypic features of NF1 and Noonan syndrome (NS) who presented with RMS of the bladder. The second infant likewise exhibited NF1 features and was also associated with bladder RMS. DNA samples were extracted from peripheral blood and tumor tissue samples. We performed loss of heterozygosity (LOH) analysis of the NF1 gene by using seven intragenic markers (IVS27AAAT2.1, IVS27EVI-20, IVS27AC24.8, IVS27AC28.4, M98509, IVS27AC33.1, IVS38TG53.0) and one extragenic polymorphic marker (3'NF1). A large deletion was detected in the NF1 gene in the NF1-Noonan syndrome (NF-NS) case associated with RMS.

Gene Deletion↗
PubMedDate not supplied

Huge biatrial cardiac rhabdomyosarcoma resulting in bilateral atrioventricular valve obstruction.

We present a case report of a 28-year-old man with a huge tumor that occupies both dilated atria almost completely but not extending into the ventricles. Cardiac rhabdomyosarcoma (CR) is extremely rare in adult patients. Its rarity and heterogenous clinical presentation make diagnosis difficult. In our case, after we have made an initial diagnosis via echocardiography, we took biopsies under computed tomography (CT) guiding. Histologic examination showed a CR. We want to emphasize that CT-guided biopsy is a useful and applicable technique in establishing preoperative diagnosis of intracardiac masses.

Adult↗
PubMed2006

p53 family members in myogenic differentiation and rhabdomyosarcoma development.

The p53 family comprises the tumor suppressor p53 and the structural homologs p63 and p73. How the three family members cooperate in tumor suppression remains unclear. Here, we report different but complementary functions of the individual members for regulating retinoblastoma protein (RB) function during myogenic differentiation. Whereas p53 transactivates the retinoblastoma gene, p63 and p73 induce the cyclin-dependent kinase inhibitor p57 to maintain RB in an active, hypophosphorylated state. DeltaNp73 inhibits these functions of the p53 family in differentiation control, prevents myogenic differentiation, and enables cooperating oncogenes to transform myoblasts to tumorigenicity. DeltaNp73 is frequently overexpressed in rhabdomyosarcoma and essential for tumor progression in vivo. These findings establish differentiation control as a key tumor suppressor activity of the p53 family.

Animals↗
PubMed2005

Detection and clinical significance of disseminated tumour cells at diagnosis in bone marrow of children with localised rhabdomyosarcoma.

Identification of patients with a poor prognosis for non-metastatic rhabdomyosarcoma (RMS) remains a clinical challenge. Prospective analysis for the presence of disseminated RMS cells in bone marrow at diagnosis, using immunocytochemistry, with MyoD1 and myogenin as markers, was carried out. Thirty-seven patients treated on RMS88 and RMS96 Italian protocols underwent staging investigations, and in addition marrow examination for occult tumour cells. All patients had negative marrow involvement using cytomorphology, but 10/37 were positive with immunostaining. With a median follow-up of 46 months (range, 12-115), 7 patients had died and 30 were disease-free. Overall survival probability was 92% in patients with no occult marrow infiltration, 47% with occult marrow infiltration (P=0.001); event-free survival probability was 89% in the former and 50% in the latter (P=0.01). Disseminated tumour cells are indicative of disease spread and are significantly linked to recurrence at distant sites and poorer outcome. Marrow examination at diagnosis using immunocytochemistry may be an additional tool to modulate treatment.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2004

The AMORE protocol as salvage treatment for non-orbital head and neck rhabdomyosarcoma in children.

AIM: To investigate the feasibility and outcome of the AMORE protocol as salvage treatment in paediatric head and neck rhabdomyosarcoma (HNRMS). METHODS: The AMORE protocol is a local treatment regimen, consisting of Ablative surgery, Moulage technique brachytherapy and surgical Reconstruction, scheduled in 1 week. Patients with recurrent or residual non-orbital HNRMS were eligible for AMORE salvage treatment. RESULTS: The procedure was feasible in nine out of 11 eligible patients. Five patients were treated for recurrent or residual parameningeal RMS after prior chemoradiation. Local complete remission was achieved in all five patients and maintained in four. Three patients are without evidence of RMS with a follow-up duration of 4-10 years. Two patients developed a distant relapse, together with a local recurrence in one. Both patients died of their disease. Four patients were included for recurrent non-parameningeal HNRMS. Long-term local control at the site of recurrence was obtained in all four patients (follow-up 5-10 years). CONCLUSIONS: The AMORE protocol is a feasible salvage strategy for non-orbital HNRMS even after external beam radiotherapy. The local salvage rate in this series is promising.

Brachytherapy↗
PubMed2006

Primary cardiac rhabdomyosarcoma causing obstruction to the right ventricular outflow.

A 72-year-old man presented with worsening shortness of breath and a systolic murmur. Transthoracic and transoesophageal echocardiograms revealed a huge mass (70 x 30 mm) obliterating the right ventricular outflow tract, with a peak transpulmonary gradient of 128 mmHg. Pathological examination confirmed the mass to be a primary cardiac rhabdomyosarcoma originating from the pulmonary valve.

Aged↗
PubMed2005

Immunohistochemical analysis of a muscle ankyrin-repeat protein, Arpp, in paraffin-embedded tumors: evaluation of Arpp as a tumor marker for rhabdomyosarcoma.

Arpp, a protein including an ankyrin-repeat, P EST motif, and p roline-rich region, is a recently identified protein that is exclusively expressed in striated muscles. This study comprehensively analyzed its expression among soft tissue sarcomas of various histological types and evaluated its potential use for the differential diagnosis of rhabdomyosarcoma (RMS). Formalin-fixed, paraffin-embedded tissues, including 37 RMS cases, 88 non-RMS sarcomas, and 38 carcinomas, were analyzed for Arpp expression. Arpp was detected in 33 (89.2%) of 37 RMS cases by immunohistochemistry. Western blot analysis revealed expression of Arpp in all RMS cases tested. High expression of Arpp was generally associated with morphological evidence of skeletal muscle differentiation of tumor cells. In contrast, Arpp displayed 6.3% (8/126) positivity among the non-RMS tumors. Focal or weak expression was seen in malignant fibrous histiocytoma (2/27), synovial sarcoma (1/11), Ewing sarcoma (1/5), and epithelioid sarcoma (3/5), whereas one epithelioid sarcoma displayed strong expression for Arpp. A comparative analysis of the Arpp profile with that of myogenic markers in RMS revealed that the sensitivity of Arpp (89.2%) was higher than that of myoglobin (59.6%) and comparable with that of myogenin (88.2%), MyoD (80.6%), muscle-specific actin (83.8%), and desmin (89.2%). These results suggested that Arpp is sensitive to and specific for RMS. Thus, we proposed that Arpp is a novel skeletal muscle-specific marker, which is useful for differential diagnosis of RMS.

Biomarkers, Tumor↗
PubMedDate not supplied

Pleomorphic rhabdomyosarcoma with pulmonary metastasis in a stranded Steller (northern) sea lion (Eumetopias jubatus).

A Steller (northern) sea lion (SSL), stranded in northern California in July 2000 had an anaplastic pleomorphic rhabdomyosarcoma in the latissimus dorsi muscle, with pulmonary metastasis. Diagnosis was based on light and electron microscopy and immunohistochemistry. Death was attributed to multiple parasitic and bacterial lesions. The SSL is of special concern because, for unknown reasons, the global population has declined by 50% over the last decade. Published post-mortem data, however, are scarce. This case report highlights several disease conditions that affect this species and is the first report of a malignant neoplasm in a free-ranging SSL.

Animals↗
PubMed2006

Stroke associated with pseudoephedrine in a child with rhabdomyosarcoma.

Pseudoephedrine is a nasal vasoconstrictor and is contained in many cough and cold medications. It is generally harmless when used in recommended doses. Hypertensive crisis, psychosis, hemorrhagic stroke, and intracranial hemorrhage have been reported as severe complications. We report a 4-year-old girl with nasopharyngeal rhabdomyosarcoma who developed stroke while on pseudoephedrine therapy for 3 days and had no hematological abnormalities.

Child, Preschool↗
PubMed2006

Outcome after surgical resection of recurrent rhabdomyosarcoma.

BACKGROUND/PURPOSE: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Patients with localized disease have a cure rate of 50% to 90%; however, there has been little evidence that aggressive surgical resection for recurrent disease is of benefit. We reviewed our experience with aggressive surgical resection for recurrent RMS. METHODS: A retrospective review of the records for patients with RMS was performed. Data extracted included tumor site, histology, initial therapy, time to recurrence, treatment, and outcomes. RESULTS: From 1991 to 2002, 122 patients with RMS (3 months-18 years) were treated at the MD Anderson Cancer Center. Of 32 patients with recurrent RMS, 19 had surgical resection and 13 had biopsy only or no resection. The common primary sites included extremity (12), genitourinary nonbladder/prostate (7), and retroperitoneal/trunk (7). In the resection group, 33 operations were performed with 5 (15%) major complications and no deaths. Seventeen (52%) of these procedures (7 pelvic, 5 thoracic, 3 amputations, and 2 cranial) were classified as aggressive. After a mean follow-up period of 4.9 years, 7 patients (37%) had no evidence of disease, 8 (42%) died, and 4 were lost to follow-up. There was no correlation between survival and the type of resection. In the no-resection group only, 1 (8%) of 13 patients survived. CONCLUSIONS: Despite morbidity, aggressive surgical resection is warranted to improve survival in patients with recurrent RMS.

Adolescent↗
PubMed2006

Visualization of xenotransplanted human rhabdomyosarcoma after transfection with red fluorescent protein.

BACKGROUND/AIMS: Discosoma sp red fluorescent protein (DsRed2) is a newly developed marker for in vivo labeling studies in different biologic systems. After vector transfection, DsRed2 is expressed in mammalian cells and can be detected by fluorescence microscopy. The aims of this study were to establish a DsRed2-transfected human rhabdomyosarcoma (RMS) cell line and to perform a xenotransplantation on nude mice to use imaging as a tool for further basic research studies on this neoplasm. PROCEDURE: The human alveolar RMS cell line Rh30 was transfected with the pDsRed2-N1 vector by lipofection. The DsRed2-positive cells were sorted out by fluorescence-activated cell sorting analysis 96 hours after transfection and selected in culture with G418. Expression of DsRed2 messenger RNA was assessed using single-cell reverse transcriptase polymerase chain reaction after laser microdissection. Transfected and parental cells were characterized cytologically, cytogenetically, immunohistochemically, and in vivo after subcutaneous injection in NMRI (nu/nu) nude mice. RESULTS: After vector transfection, a pure and stable DsRed2-positive cell line was established by monoclonal growth of the cells. Reverse transcriptase polymerase chain reaction revealed constant expression of DsRed2 messenger RNA in fluorescencing cells. There was no difference between transfected and parental cells by means of cell morphology and desmin expression. Clonal cells (1 x 10(6)) were used for xenotransplantation. Tumors were visualized noninvasively through the skin of the mice using specific emission and excitation filters. Tumor vascularization and vessel growth could be discriminated from tumor tissue using this imaging system. CONCLUSION: This is the first report on successful transfection of an RMS cell line with red fluorescent protein followed by xenotransplantation into nude mice. This model can serve as an imaging tool for in vivo studies investigating tumor biology and metastases of human RMS.

Animals↗
PubMed2006

Bladder/prostate rhabdomyosarcoma: past, present and future.

PURPOSE: The last few decades have witnessed substantial improvement in outcomes in children with bladder/prostate rhabdomyosarcoma. We reviewed relevant historical aspects of treatment, current treatment strategies and new developments. Most importantly we identified areas of existing controversy, which will provide direction for future studies and continued improvements in therapy. MATERIALS AND METHODS: A database (PubMed, MEDLINE, etc) search was performed from 1966 through January 2005. Approximately 500 citations were identified. Relevant citations were reviewed in detail. RESULTS: While the reported cure rate has improved to approximately 70% to 80% and bladder preservation rates as high as 60% are reported, substantial controversy continues in certain areas. Specifically the long-term function of preserved bladders, the contribution of radiotherapy to bladder dysfunction, the timing of reconstruction and molecular markers of disease progression are among the areas that require further investigation. CONCLUSIONS: Substantial progress has been made as a result of multi-institutional collaborative trials. Future combined studies are required to further the treatment of this childhood malignancy.

Child↗
PubMed2006

Late effects in 164 patients with rhabdomyosarcoma of the bladder/prostate region: a report from the international workshop.

PURPOSE: We determined the late sequelae in children and adolescents with rhabdomyosarcoma of the bladder/prostate treated in the United States, Canada and selected Western European countries, primarily France, Germany, Italy and the United Kingdom, from 1979 to 1998. MATERIALS AND METHODS: We used a data collection form to record data from patient records available at the group statistical centers. RESULTS: A total of 164 patient charts had sufficient data available to be included in the study. Median patient age at diagnosis was 2.4 years. Median length of followup was approximately 8 years (range 3 to 24). Of the patients with available data 78 did not undergo cystectomy, 49 underwent partial cystectomy and 34 underwent complete cystectomy. Urinary continence was assessed at age 6 years or older in 62 patients who did not undergo cystectomy. Of these patients 43 (69%) were continent, 16 had nocturnal incontinence and 9 had diurnal incontinence. Of 44 patients who underwent partial cystectomy and had pertinent followup data 32 (73%) were continent, and 12 had nocturnal and/or diurnal incontinence. Only 11 patients underwent urodynamic investigation. Other nephrourological complications consisted of 3 or more urinary tract infections in 29 of 53 patients, abnormal renal function in 19 of 48 (tubulopathy 14, increased creatinine/blood urea nitrogen 5), chronic hematuria in 13 of 51 and hydronephrosis in 8 of 54 with available data. Vesicoureteral reflux, urinary stones and bowel problems were infrequent. CONCLUSIONS: Of the patients 48% had a relatively intact bladder after biopsy only. However, 31% of patients 6 years or older had some urinary incontinence, as did 27% of patients who had undergone partial cystectomy. In addition, 55% of all patients had 3 or more urinary tract infections, 40% had decreased renal function and 25% had chronic hematuria. Other complications were present in 15% or less of the patients with available data.

Adolescent↗
PubMed2004

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?

We report two unrelated patients with infantile spinal muscular atrophy (SMA) types II and IIIa who developed alveolar rhabdomyosarcoma (ARMS) at 15 and 19 years, respectively. The tumours were located in the forearm, within severely atrophic flexor muscles. They displayed a similar histology and shared the most common translocation, t(2;13)(q35;14) in ARMS. Since cell proliferation is increased in de- and regenerating muscle and the PAX3/FKHR fusion protein activates myogenic transcription, it is tempting to speculate whether severe muscle atrophy in SMA might predispose to malignant transformation in long-standing disease.

Adolescent↗
PubMed2006

Comparison of the uptake of [123/125I]-2-iodo-D-tyrosine and [123/125I]-2-iodo-L-tyrosine in R1M rhabdomyosarcoma cells in vitro and in R1M tumor-bearing Wag/Rij rats in vivo.

INTRODUCTION: Recently, promising results concerning uptake in vivo in tumors of D-amino acids have been published. Therefore, we decided to evaluate the tumor uptake of the D-analogue of [(123)I]-2-iodo-L-tyrosine, a tracer recently introduced by our group into clinical trials. The uptake of 2-amino-3-(4-hydroxy-2-[(123/125)I]iodophenyl)-D-propanoic acid (2-iodo-D-tyrosine) was studied in vitro in LAT1-expressing R1M rat rhabdomyosarcoma cells and in vivo in R1M tumor-bearing Wag/Rij rats. METHODS: The uptake of [(125)I]-2-iodo-L-tyrosine and [(125)I]-2-iodo-D-tyrosine into R1M cells was determined in appropriate buffers, allowing the study of the involved transport systems. In vivo, the biodistribution in R1M-bearing rats of [(123)I]-2-iodo-L-tyrosine and [(123)I]-2-iodo-D-tyrosine was performed by both dynamic and static planar imaging with a gamma camera. RESULTS: In in vitro conditions, the uptake of both [(125)I]-2-iodo-L-tyrosine and [(125)I]-2-iodo-D-tyrosine in the HEPES buffer was 25% higher in the presence of Na(+) ions. In the absence of Na(+) ions, [(125)I]-2-iodo-D-tyrosine was taken up reversibly in the R1M cells, with an apparent accumulation, probably for the larger part by the LAT1 system. Dynamic planar imaging showed that the uptake in the tumors of [(123)I]-2-iodo-D-tyrosine was somewhat lower than that of [(123)I]-2-iodo-L-tyrosine. At 30 min postinjection, the mean differential uptake ratio values of the L- and D-enantiomers are 2.5+/-0.7 and 1.7+/-0.6, respectively. Although the uptake of the D-isomer is lower, probably due to a faster clearance from the blood, the tumor-background ratio is the same as that of the l-analogue. CONCLUSION: A large part (75%) of [(125)I]-2-iodo-D-tyrosine in vitro and [(123)I]-2-iodo-D-tyrosine in vivo is reversibly highly taken up in R1M tumor cells by Na(+)-independent LAT transport systems, more likely by the LAT1. The clearance from the blood of [(123)I]-2-iodo-D-tyrosine in the rats is faster than that of the L-analogue, resulting in a slightly lower tumor uptake but with the same tumor-background ratio.

Animals↗
PubMed2006

Properties of voltage-gated Na+ channels in the human rhabdomyosarcoma cell-line SJ-RH30: conventional and automated patch clamp analysis.

Conventional and automated patch clamp electrophysiology were used to characterise the Na+ current of the SJ-RH30 human rhabdomyosarcoma. In conventional recordings SJ-RH30 cells exhibited a fast activating, fast inactivating Na+ current at potentials positive to -40 mV; in full current-voltage curves maximum current occurred between -20 and -10 mV. Inactivation kinetics at 0 mV were biexponential with time constants of 0.5 and 3.7 ms. Deinactivation at -90 mV also exhibited two kinetic components. Tetrodotoxin (TTX) blocked the Na+ current completely at 1 microM. The NaV 1.4 selective toxin mu-CTx-GIIIB reversibly blocked the Na+ current approximately 60% at 10 microM. Very similar biophysical behaviour was observed in automated patch clamp and conventional recordings. For example, inactivation mid-point was -72+/-2 mV (slope factor 7.2+/-0.2) in automated patch clamp and -74+/-2 mV (slope factor 7.4+/-0.4) with conventional recording. The corresponding values for activation mid-point were -33.2+/-2.4 and -30.3+/-2.7 mV (slope 5.8+/-0.3 and 6.4+/-0.3, respectively). The throughput of the automated method was used to generate additional pharmacological data on inhibition of the Na+ current. TTX inhibited with an IC50 of 23 nM. Mu-CTx-GIIIB also inhibited the channel in a concentration-dependent manner. Inhibition produced by both tetracaine and amitriptyline were shown to be frequency-dependent. Our experiments indicate that the Na+ current of SJ-RH30 cells arises mainly from channels with a phenotype like recombinant NaV 1.4 channels. The suitability of these cells for automated patch clamp suggests they may be useful for higher throughput studies of the interaction of drugs with human skeletal muscle Na+ channels.

Action Potentials↗