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PubMed2004

Spindle cell rhabdomyosarcoma of the tongue in an infant: a case report with emphasis on differential diagnosis of childhood spindle cell lesions.

Malignant tumors are extremely uncommon in infants, specifically in the head and neck region. We present a three-day-old infant with a large, polypoid, soft tissue mass arising from the floor of the mouth. Histologically, this neoplasm consisted of hypercellular and myxoid areas. A mixture of poorly oriented, small, undifferentiated, hyperchromatic, and round to elongate spindle cells was seen. A high degree of striated muscle differentiation was present, along with areas marked by a herringbone pattern, as well as hemangiopericytic vessels and rare mitosis. Immunohistochemical examinations revealed strong nuclear staining for myogenin and diffuse cytoplasmic staining for desmin and muscle-specific actin (HHF-35). The tumor did not stain for S-100. Based on histologic results and immunostains, this lesion was diagnosed as spindle cell rhabdomyosarcoma. This type of lesion involving the tongue is rarely seen in females, neither in association with a herringbone pattern nor with hemangiopericytic vessels. Furthermore, rare benign and malignant spindle lesions, such as cellular fibromatosis, fetal rhabdomyoma, infantile hemangiopericytoma, infantile rhabdomyofibrosarcoma, and infantile fibrosarcoma, should be in the differential diagnosis and excluded.

Actins↗
PubMed2006

Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy.

The use of a relatively nontoxic tyrosine kinase receptor inhibitor, imatinib mesylate (IM) (STI-571), has increasingly become a valuable therapeutic alternative in some KIT (CD117)-overexpressing neoplasms potentially because of the presence of KIT-activating mutations. As the treatment eligibility for this drug hinges on CD117 expression, KIT immunostaining has recently been widely examined in various different tumors. We examined CD117 expression in pediatric embryonal rhabdomyosarcomas (RMSs) to identify its eventual prognostic impact and to evaluate its effect on tumorigenesis. This study included two spindle cell (leiomyomatous) variants, two botryoid variants, and 21 conventional embryonal RMSs. Sections from paraffin-embedded tumor samples were immunostained by a standard SABC technique using c-kit polyclonal antibody with antigen retrieval. In all the series, the percentage of CD117 positivity was 12%. Staining was strong in two of two spindle cell variants, in zero of two botryoid variants, and in one of 21 conventional embryonal RMSs. In Spearman's correlation analysis, there was statistical relationship between the presence of CD117 expression and the histological subtype of RMS. Kaplan-Meier analysis revealed no prognostic significance of CD117 expression for survival. The present study demonstrated a very limited expression of CD117 in pediatric embryonal RMS other than in the spindle cell variant. This finding suggested that the stem cell factor/c-kit pathway may be implicated in the tumorigenesis of spindle cell RMSs. Therefore, the mutation of c-kit gene must be prospectively examined in larger series of RMSs. If it can be verified that tissue expression of CD117 reflects the mutation of c-kit gene, IM can be considered a targeted therapy for CD117-expressing RMSs, particularly the spindle cell variant.

Adolescent↗
PubMed2005

Cytolytic replication of coxsackievirus B2 in CAR-deficient rhabdomyosarcoma cells.

The six coxsackievirus B serotypes (CVB1-6) use the coxsackie- and adenovirus receptor (CAR) for host cell entry. Four of these serotypes, CVB1, 3, 5 and 6, have also shown the capacity to replicate and cause cytolysis in rhabdomyosarcoma (RD) cells, a CAR-deficient cell line. This extended tropism has been associated with an acquired ability to bind decay accelerating factor (DAF). In this study, we have adapted the CVB2 prototype strain Ohio-1 (CVB2/O) to replicate in RD cells. Two types of infection were identified: (I) an enterovirus-typical, lytic infection, and (II) a non-lytic infection. Both CVB2/O-RD variants retained the prototype-ability to cause cytopathic effect in HeLa cells using CAR as receptor. Phenotypic and genotypic changes in the CVB2/O-RD-variants were determined and compared to the prototype cultured in HeLa cells. Inhibition studies using antibodies against CAR and DAF revealed a maintained ability of the CVB2/O-RD-variants to bind CAR, but no binding to DAF was observed. In addition, neither the prototype nor the CVB2/O-RD-variants were able to cause hemagglutination in human red blood cells, an enterovirus feature associated with affinity for DAF. Sequence analysis of the CVB2/O-RD-variants showed acquired mutations in the capsid region, suggesting extended receptor usage towards an alternative, yet unidentified, receptor for CVB2.

Adaptation, Physiological↗
PubMed2006

Cytogenetic and molecular studies of an unusual case of multiple primary alveolar rhabdomyosarcomas: low-level chromosomal instability and reciprocal translocation t(6;11).

Cytogenetic and molecular studies have shown that approximately 80% of cases of alveolar rhabdomyosarcoma (ARMS) have consistent chromosomal translocation of either t(2;13) or t(1;13), resulting in either PAX3-FKHR or PAX7-FKHR gene fusions. However, 20% of the cases diagnosed histologically are negative for these fusion genes. The clinical and pathological properties of the so-called fusion gene negative tumors remain to be defined. We present an unusual case of a 7-year-old boy who developed three separate primary ARMS over a 5-year period, with the first tumor diagnosed at the age of 12 months. The tumors were negative for the characteristic translocations, t(2;13) or t(1;13), but showed evidence of low-level chromosomal instability and a reciprocal chromosomal translocation t(6;11)(q27;q13). PCR amplification of the p53 gene, exons 2-11, followed by DNA sequencing did not detect any germline p53 mutation. These clinical and cytogenetic features have not been reported previously in ARMS. The findings suggest that cytogenetic abnormalities of chromosome 6 may be associated with the development of early onset multiple ARMS in a subgroup of pediatric patients as seen in this case.

Cheek↗
PubMed2004

Genetic mapping of a Ptch1-associated rhabdomyosarcoma susceptibility locus on mouse chromosome 2.

Mutations in the Patched (Ptch1) gene are responsible for various familial and sporadic cancers. Ptch1(neo67/+) mice, in which exons 6 and 7 are deleted, show genetic background-dependent susceptibility to the development of muscle tumors resembling human rhabdomyosarcoma (RMS); BALB/c (BALB) is a susceptible strain whereas C57BL/6 (B6) shows resistance. A genome-wide linkage analysis was carried out using Ptch1(neo67/+)mice produced from B6 x (BALB x B6) backcrosses to identify loci involved in the control of RMS susceptibility. Quantitative trait locus mapping with the censored tumor latency time as the quantitative parameter was used to detect a significant RMS susceptibility modifier locus, Parms1 (Patched-Associated RMS 1), on chromosome 2 between D2Mit37 and D2Mit102 (LRS = 10). A Kaplan-Meier survival curve revealed that mice with the B6/BALB genotype develop tumors more frequently and much faster as compared to mice homozygous for the B6 allele (P = 0.02). Additional loci not reaching linkage significance were also detected for medulloblastoma resistance.

Animals↗
PubMed1993

Rhabdomyosarcoma manifesting as acquired nasolacrimal duct obstruction.

A 5-month-old boy with acquired epiphora developed a right inferonasal lower eyelid mass, which was shown on computed tomography to involve the inferior and medial recti muscles and the nasolacrimal duct. Orbital exploration and excision of the mass disclosed this to be an embryonal rhabdomyosarcoma. This case illustrates the importance of distinguishing acquired nasolacrimal duct obstruction in infancy from true congenital nasolacrimal duct obstruction.

Diagnosis, Differential↗
PubMed2002

Carp, a cardiac ankyrin-repeated protein, and its new homologue, Arpp, are differentially expressed in heart, skeletal muscle, and rhabdomyosarcomas.

Arpp, a protein containing an ankyrin repeat domain, PEST sequence, and proline-rich region, is a novel ankyrin-repeated protein highly homologous to Carp, which is proposed to be the putative genetic marker for cardiac hypertrophy. In this study, we comparatively analyzed expression of Arpp and Carp protein in skeletal and cardiac muscles and rhabdomyosarcomas (RMSs). In adult skeletal muscle, Arpp was preferentially expressed in the nucleus and cytoplasm of type I fibers, whereas Carp was barely detectable in skeletal muscle. On the other hand, in adult cardiac muscle, interestingly, Arpp was expressed in ventricles mostly, whereas Carp was expressed throughout the atrium and ventricle. Furthermore, although Carp was identified in fetal heart at 11 developmental weeks, Arpp was very low or undetectable in these fetal hearts. These results suggest that Arpp and Carp are differentially expressed and function in both skeletal and cardiac muscle of fetus and adult. We found that Arpp expression was induced during the differentiation of C2C12 cells in vitro, suggesting that Arpp-expression may be associated with the differentiation stage during myogenesis. Both Arpp and Carp were found to be expressed in all of the RMS cases studied. Because the expression patterns of Arpp in RMS were different from those of muscle actin or desmin, Arpp may be detectable in RMS cases that do not express other existing RMS markers.

Actins↗
PubMed2001

PAX3-FKHR induces morphological change and enhances cellular proliferation and invasion in rhabdomyosarcoma.

Alveolar rhabdomyosarcoma (ARMS) is consistently associated with the characteristic translocations t(2;13)(q35;q14) and t(1;13)(p36;q14), which encode for the PAX3-FKHR and PAX7-FKHR fusion oncoproteins respectively. We have investigated the relationship between PAX3-FKHR expression and ARMS histogenesis in primary tumors and cell culture systems. In a blinded histological review of discrepant primary tumors in which there was PAX3-FKHR expression but embryonal histology, we found small areas of alveolar histology in 6 of 11 cases. This suggests that histology alone may under-represent the association between PAX3-FKHR and ARMS, and we investigated this link by examining the effect of ectopic PAX3-FKHR expression on RMS cells. Two cell lines, RD and HX170C, were stably transfected with a PAX3-FKHR expression construct. In cloned transfectants derived from both lines, PAX3-FKHR expression resulted in increased proliferative rate in vitro and promoted cell growth in the absence of added growth factors. Tumors that formed as xenografts in immunodeficient mice were faster growing, more locally invasive, and had a denser, more pleomorphic architecture than untransfected or empty vector transfected tumors. The characteristic clefts and alveolar spaces of ARMS, however, were not seen. In contrast, tumors grown as xenografts from individual clones derived from ARMS cell lines showed all of the classical morphological features of ARMS suggesting divergence in vivo from precursor cells propagated in culture.

Animals↗
PubMedDate not supplied

Rhabdomyosarcoma: cytogenetics of five cases using fine-needle aspiration samples and review of the literature.

Cytogenetic analyses of fine-needle aspiration samples were performed on five cases of which three were alveolar rhabdomyosarcomas (RMS), one was embryonal RMS and one was RMS of mixed alveolar and embryonal histology. Three cases of alveolar RMS and one case of embryonal RMS showed t(2;13). A del(1)(p11) in a mixed alveolar and embryonal RMS was observed without the presence of t(2;13). add(17)(q25) was present in one of the alveolar RMS along with a t(2;13). Modal number of chromosome in the five cases ranged from hyperdiploid to hypertetraploid. Clinical, cytological, histopathological and cytogenetic findings are correlated. The role of additional abnormalities is discussed with a review of appropriate literature.

Adult↗
PubMed2002

[Local recurrence of paratesticular rhabdomyosarcoma].

We report an uncommon case of scrotal recurrence of embryonal paratesticular rhabdomyosarcoma in 19 year old man after 3 years later. The diagnosis was suspected clinically and confirmed by histopathology study after resection of the scrotal tumor. About this case, the authors discuss the diagnosis and the management of this tumor.

Adult↗
PubMed1994

Head and neck rhabdomyosarcomas in children: value of clinical and CT findings in the detection of loco-regional relapses.

Between 1984 and 1990, 16 children who had been treated for a histologically proven head and neck rhabdomyosarcoma developed 19 local recurrences. Fourteen relapses discovered in 11 children (group 1) were based on clinical data acquired 3 to 52 months after completion of treatment. Clinical symptoms (12 patients) or examination (2 patients) led to suspicion of a relapse. The clinical presentation of relapses and that of primary tumour were identical in eight cases. CT scans performed prior to recurrence revealed a stable 'post-therapeutic residue' without mass effect at the original site (12 patients) or was normal (2 patients). Six of these 11 children died at 1 to 15 months and five are alive 12 to 36 months after treatment of recurrence. Five relapses were discovered on CT studies 3 to 15 months after completion of treatment in the remaining five children (group 2). Clinical examination was normal in all cases. CT scans performed 3 months before recurrence showed a stable 'post-therapeutic residue' (4 patients) or was normal (1 patient). All of these five children died 3 to 23 months after the relapse.

Adolescent↗
PubMed1978

The radiology of bone changes in rhabdomyosarcoma.

Rhabdomyosarcoma usually presents as a soft tissue mass, which may invade adjacent bone. However, the patient presents occasionally with bony metastases. Recognition of these is important for staging and management. Fifty-eight cases have been reviewed; 14 of these had local bone invasion by the soft tissue tumour. All bones involvel were flat bones; 12 showed permeated bone destruction and two showed geographic destruction. Bone expansion was seen in half the involved bones. Twelve of the 58 cases showed secondary bone deposits, which were the presenting feature in five. Although 10 cases had permeated bone destruction, two were very well defined with a wide range of radiological appearances. The radiological differential diagnosis includes neuroblastoma, leukaemic infiltration, lymphoma, histiocytosis X, solitary and multifocal osteosarcoma and other deposits.

Adolescent↗
PubMed1978

The role of diagnostic radiology in the diagnosis and management of rhabdomyosarcoma in young persons.

Rhabdomyosarcoma is a rare tumour of mesenchyme-like tissue in which differentiation of rhabdomyoblasts has occurred. It is found mainly in infants and children. The prognosis, until recent years very grave, has been improved by a combination of chemotherapy and radiotherapy occasionally with surgery. Survival depends on the extent of the disease at the time of diagnosis. Diagnostic radiology has an important role to play in the demonstration of this, illustrations of which are given from a series of seven cases. The primary tumour has no pathognomonic appearances and is demonstrated essentially as a soft tissue mass lesion which displaces adjacent soft tissue structures such as arteries, veins, bladder and colon, or erodes adjacent bones whether in the extremities or the skull. The main role of diagnostic radiology is the detection of metastases. Chest radiography and skeletal survey are mandatory. Lymphangiography may reveal filling defects in regional lymph nodes but these are indistinguishable from any other metastases. Arteriography as well as revealing displacement of larger vessels, may show typical tumour neovascularity in the lesion. Serial skeletal radiographs are of help in assessing response of metastases to therapy.

Adolescent↗
PubMed1998

Orbital rhabdomyosarcoma--the radiological characteristics.

We reviewed computed tomography (CT) studies in 30 patients with histologically confirmed orbital rhabdomyosarcoma. There were 17 male and 13 female patients, mean age 8.8 years (median age 7 years, age range 1 month to 51 years). The tumour occupied the intra and extraconal compartments in 14 (47%) cases; it was solely extraconal in 11 (37%) and intraconal in five (16%). Within the orbit the upper inner quadrant was the most common site, 20 (67%) of the tumours lying in this region. More than one quadrant was involved in 16 (53%) cases. The epicentre of the tumour was in the eyelids of three (10%) patients. At presentation the mean size of the mass was 25 x 17 mm in long and short axis diameters, respectively. The tumours were of soft tissue density with moderately well defined margins and an irregular shape. They showed mild to moderate contrast enhancement. Calcification was seen in one case. Changes in the adjacent bone were seen in at least 12 (40%) patients. Intracranial extension was present in one (3%) patient and invasion of the paranasal sinuses was also seen in one (3%) patient. The intraorbital structures were displaced or encased by the tumour mass. The globe was displaced and distorted but not invaded by the tumour. Magnetic resonance imaging (MRI) studies were also reviewed in five patients. On T1-weighted images the tumour gave a similar signal to muscle but on T2-weighted images it gave a higher signal.

Adolescent↗
PubMed1999

Insulin selectively activates STAT5b, but not STAT5a, via a JAK2-independent signalling pathway in Kym-1 rhabdomyosarcoma cells.

The STAT multigene family of transcriptional regulators conveys signals from several cytokines and growth factors upon phosphorylation by janus kinases (JAK). Activation of STAT5 is typically mediated by JAK2, but more recent data indicate a direct activation by the insulin receptor kinase. STAT5 exists in two closely homologous isoforms, STAT5a and b. We here describe the selective tyrosine phosphorylation of STAT5b in Kym-1 cells in response to insulin. Blocking insulin signalling by HNMPA-(AM)(3), an insulin receptor kinase inhibitor, resulted in the loss of insulin-induced STAT5b tyrosine phosphorylation, whereas the inhibition of JAK2 by the JAK selective inhibitor tyrphostin AG490 had no effect. By contrast, in the same cells, IFNgamma-induced STAT5b activation was JAK2-dependent, indicating that this signal pathway is functional in Kym-1 cells. We conclude from this rhabdomyosarcoma model that STAT5b, but not STAT5a is a direct target of the insulin receptor kinase.

DNA-Binding Proteins↗
PubMed2000

Aggressive surgery is unwarranted for biliary tract rhabdomyosarcoma.

BACKGROUND/PURPOSE: Rhabdomyosarcoma (RMS) of the biliary tract is rare, and, in addition to multiagent chemotherapy with or without radiotherapy (RT), some investigators recommend aggressive surgery. To assess the role of surgery, records of all 25 eligible patients with biliary RMS enrolled in IRSG studies I through IV from 1972 to 1998 were reviewed. METHODS: Treatment included surgery with or without vincristine, dactinomycin, cyclophosphamide, doxorubicin, cisplatin, etoposide, ifosfamide, and with or without RT. Data evaluated included clinical presentation, treatment, complications, and outcome. RESULTS: Diagnostic imaging identified the primary tumor but failed to identify regional metastases. Despite aggressive surgery, gross total resection at diagnosis was possible in only 6 cases, 2 of which had negative surgical margins. Although only 6 (29%) patients without distant metastases underwent gross total resection, estimated 5-year survival rate was 78% (95% CI 58%, 97%). Infectious complications were common and frequently associated with external biliary drains. Five (20%) died within the first 2 months, 3 of sepsis. CONCLUSIONS: Surgery is critical for establishing an accurate diagnosis and determining the extent of regional disease. Gross total resection is rarely possible despite aggressive surgery, and outcome is good despite residual disease after surgery. External biliary drains increase the risk of postoperative infectious complications.

Biliary Tract Neoplasms↗