Primary Embryonal Rhabdomyosarcoma Research Articles

Primary paratesticular embryonal rhabdomyosarcoma - An unusual presentation.

Paratesticular embryonal rhabdomyosarcoma (RMS) is a very rare and aggressive mesenchymal tumor. It is usually seen in children and adolescents presenting as a painless intrascrotal mass, localized in the paratesticular region. Hereby, we report two cases of paratesticular embryonal RMS in adults. One case was clinically suspected to be a testicular abscess, whereas the other presented with testicular swelling and lung metastasis. Localized forms have a good prognosis, whereas tumors presenting with metastases show a poor outcome. A treatment based on surgery and chemotherapy yields good results. Sperm cryopreservation and endocrine follow-up improve the overall survival and quality of life of these patients.

Detailed molecular and pathological analyses of primary intracranial embryonal rhabdomyosarcoma with a BRAF mutation: illustrative case.

The etiological significance of the RAS and PI3K pathways has been reported in systemic embryonal rhabdomyosarcoma (ERMS) but not in primary intracranial ERMS (PIERMS). Herein, the authors present a unique case of PIERMS with a BRAF mutation. A 12-year-old girl with progressive headache and nausea was diagnosed with a tumor in the right parietal lobe. Semi-emergency surgery revealed an intra-axial lesion that was histopathologically identical to an ERMS. Next-generation sequencing indicated a BRAF mutation as a pathogenic variation, but the RAS and PI3K pathways showed no alteration. Although there is no established reference class for PIERMS, the DNA methylation prediction was closest to that of ERMS, indicating the possibility of PIERMS. The final diagnosis was PIERMS. The patient underwent local radiotherapy (50.4 Gy) and multiagent chemotherapy, with no recurrence for 12 months after surgery. This may be the first case demonstrating the molecular features of PIERMS, especially the intra-axial type. The results showed a mutation in BRAF but not in the RAS and PI3K pathways, which is different from the existing ERMS features. This molecular difference may cause differences in DNA methylation profiles. Accumulation of the molecular features of PIERMS is necessary before any conclusions can be drawn.

RT-5 Boron Neutron Capture Therapy has extended progression-free survival about recurrent malignant peripheral nerve sheath tumor - A case report

Introduction: Recurrent malignant peripheral nerve sheath tumor (MPNST) is intractable. Boron neutron capture therapy (BNCT) is a treatment using tumor-selective particle radiation, and is indicated for medical treatment for head and neck cancer, and also used for malignant glioma and malignant meningioma.<Case>20-year-old woman who has MPNST that extends from the subcutaneous tissue of the right neck to the posterior fossa. <Medical History>Chemotherapy and local irradiation(50.4Gy/28fr) for primary embryonal rhabdomyosarcoma of the right ear canal at the age six.<Current medical history>Right cervical tumor developed at 17-year-old, some chemotherapy regimens and tumor resections were performed as recurrence of rhabdomyosarcoma at the previous hospital. After she was diagnosed with MPNST in the pathology consultation at our hospital, she was irradiated with heavy ion beam 70.8Gy(RBE)/16fr and received additional chemotherapies at our department, but her tumor was refractory. Although BNCT for MPNST is not covered by health insurance in Japan, she wanted to try to be treated for BNCT. After confirming boron accumulation in the tumor (SUVmax 4.28) by FBPA-PET, tumor growth and hydrocephalus occurred while waiting for travel to Taiwan due to the spread of COVID-19 infection. She was performed tumor resection(NTR) and irradiated with SRS 20Gy/fr for the residual lesion, but tumor had a rapid recurrence from the margin of the excision cavity. Finally, she could travel about 3 months after the operation and underwent BNCT, that used neutrons and 10B-boronophenylalanine from the Tsinghua University research reactor in Taiwan. No serious adverse events including cerebral edema were observed, and dramatic tumor shrinkage was maintained after treatment. FBPA-PET of 3 months later showed accumulation in the part of the margin of the cavity, the recurrence was observed on MRI after 3 and a half months. Discussion: BNCT for refractory/recurrent MPNST showed acceptable safety and was able to prolong progression-free survival.

Expression and clinical association of programmed cell death-1, programmed death-ligand-1 and CD8+ lymphocytes in primary sarcomas is subtype dependent.

In order to explore the potential of immune checkpoint blockade in sarcoma, we investigated expression and clinical relevance of programmed cell death-1 (PD-1), programmed death ligand-1 (PD-L1) and CD8 in tumors of 208 sarcoma patients. Primary untreated osteosarcoma (n = 46), Ewing sarcoma (n = 32), alveolar rhabdomyosarcoma (n = 20), embryonal rhabdomyosarcoma (n = 77), synovial sarcoma (n = 22) and desmoplastic small round cell tumors (DSRCT) (n = 11) were examined immunohistochemically. PD-L1 expression was predominantly detected in alveolar and embryonal rhabdomyosarcomas (15% and 16%, respectively). In the alveolar subtype PD-L1 expression was associated with better overall, event-free and metastases-free survival. PD-1 expression on lymphocytes was predominantly seen in synovial sarcomas (18%). High levels of CD8+ lymphocytes were predominantly detected in osteosarcomas (35%) and associated with worse event-free survival in synovial sarcomas. Ewing sarcoma and DSRCTs showed PD-1 on tumor cells instead of on tumor infiltrating lymphocytes. Overall, expression and clinical associations were found to be subtype dependent. For the first time PD-1 expression on Ewing sarcoma (19%) and DSRCT (82%) tumor cells was described.

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, skeletal abnormalities, congenital heart disease, and a predisposition for cancer, most commonly embryonal rhabdomyosarcoma (ERMS). The goal of this study was to characterize CS ERMS at the molecular level and to determine how divergent it is from sporadic ERMS. We characterized eleven ERMS tumors from eight unrelated CS patients, carrying paternally derived HRAS c.34G>A (p.Gly12Ser; 6) or c.35G>C (p.Gly12Ala; 2) mutations. Loss of heterozygosity (LOH) was evaluated in all CS ERMS by microarray and/or short tandem repeat (STR) markers spanning the entire chromosome 11. Eight CS ERMS tumors displayed complete paternal uniparental disomy of chromosome 11 (pUPD11), whereas two displayed UPD only at 11p and a second primary ERMS tumor showed UPD limited to 11p15.5, the classical hallmark for ERMS. Three sporadic ERMS cell lines (RD, Rh36, Rh18) and eight formalin fixed paraffin embedded (FFPE) ERMS tumors were also analyzed for RAS mutations and LOH status. We found a higher than anticipated frequency of RAS mutations (HRAS or NRAS; 50%) in sporadic ERMS cell lines/tumors. Unexpectedly, complete uniparental disomy (UPD11) was observed in five specimens, while the other six showed LOH extending across the p and q arms of chromosome 11. In this study, we are able to clearly demonstrate complete UPD11 in both syndromic and sporadic ERMS. © 2016 Wiley Periodicals, Inc.

Metastatic embryonal rhabdomyosarcoma to the breast: a case report and review of the literature

A 19-year-old fertile Caucasian female, with a medical history of embryonal rhabdomyosarcoma in the left upper extremity at the age of 17, presented with enlarged lymph node of left axilla. Fine needle aspiration (FNA) cytology of axillar lymph node revealed a metastatic malignant neoplasm, consistent with the primary embryonal rhabdomyosarcoma. Four months later, breast clinical examination revealed the presence of multiple hard and immobile masses located in both breasts. Ultrasound detected multiple opacity areas and ultrasound-guided FNA cytology was performed on two bilateral breast lumps. The final cytology diagnosis of FNA -using ThinPrep ® technique- was “Positive morphologic and immunocytochemistry findings of metastatic malignant neoplasm of mesenchymal origin, consistent with patient’s history-embryonal rhabdomyosarcoma”. Today the patient is under first line chemotherapy and in good physical condition.

Adult Primary Prostate Embryonal Rhabdomyosarcoma: Report of a Case and Revue of Literature

Introduction: Primary embryonal rhabdomyosarcoma of prostate (ERMP) is an extremely rare pathological and clinical entity in adults. It’s characterized by extensive loco-regional spread and a tendency to metastasize by blood stream and regional lymphatics. In adult patients, data available on the management of ERMP are limited and mostly derived from the pediatric clinical trials on rhabdomyosarcoma. Case Report: We report a case of group III ERMP approached by initial surgery followed by the administration of three courses of vincristine, doxorubicin and Cyclophosphamide regimen. The patient succumbed to disease complications three months after the original diagnosis. Conclusion: The most appropriate therapeutic approach for adults with ERMP remains questionable. Further studies are needed to improve the understanding of biological behavior of ERMP in adults and to define the best therapeutic strategy in locally advanced disease.

Primary embryonal rhabdomyosarcoma of the liver in a young male.

Rhabdomyosarcoma (RMS) occurs infrequently in the liver. Rhabdomyosarcomas are malignant tumours that display features of striated muscle differentiation. They are the most common soft-tissue sarcomas among children. In adults however, these are very rare. We report a case of a primary embryonal rhabdomyosarcoma of the liver in a 17 years old boy. This was confirmed by histological examination using immunohistochemical analysis (LCA negative, desmin positive, myogenin focally positive and cytokeratin negative) and site was confirmed by PET CT scan. He received multiple chemotherapies including (doxorubicin, ifosfamide, dacarbazine; gemcitabine, paclitaxel; vincristine, actinomycin D, cyclophosphamide) but longest sustained stable disease was seen with gemcitabine-paclitaxel regimen. The patient died 31 months after the first presentation, secondary to complicated abundant abdominal progressive disease. The poor prognosis and early death of most previously reported cases imply the need for investigation of a more effective treatment method of this uncommon tumour.

Primary embryonal rhabdomyosarcoma of the anterior neck and thyroid

Primary embryonal rhabdomyosarcoma of anterior neck involving the thyroid is extremely rare. This report is only the second of its kind that describes this form of nonorbital nonparameningeal rhabdomyosarcoma in a 7‐year‐old boy and adds to a new, seldom‐reported variant of rhabdomyosarcoma in the head‐neck region. The child presented with a huge anterior neck swelling that clinically resembled a thyroid mass. Computed tomography scan showed a heterogeneous mass in the anterior neck replacing the entire right lobe of thyroid. Fine‐needle aspiration cytology was nondiagnostic. Right hemithyroidectomy with selective neck dissection suggested embryonal rhabdomyosarcoma by histopathology; the diagnosis was confirmed by positive reactions to desmin and myogenin. The child was subsequently treated with chemotherapy. Repeat chemotherapy with radiotherapy was required when recurrences were detected in the mediastinum and cervical lymph nodes at 13‐month follow‐up.Laryngoscope, 123:2072–2076, 2013

Primary embryonal botryoid-type rhabdomyosarcoma of the liver in adult: case report and review of the literature

Rhabdomyosarcoma (RMS) is relatively seen in the pediatric age group with the head and neck region as the commonest site. To the best of our knowledge, few cases of Primary intrahepatic rhabdomyosarcoma in adult have been described in the literature. We report a case of embryonal botryoid-type RMS of the liver, occurring in a 25-year-old male patient presenting with a mass in the right lobe of the liver. Imaging studies revealed a large mass of the liver and no lesions elsewhere in the abdomen, suspected to be a hemangioma or sarcoma. He subsequently underwent laprotomy for tissue confirmation, and biopsy was performed. Histological and immunohistochemistry studies provided the correct diagnosis. The mass was felt to be unresectable due to the size of the tumor. After diagnosing embryonal rhabdomyosarcoma, therapy was started with doxorubicine, ifosfamide and vincristine. Patient had immediate progression after 3 cycles of chemotherapy. Rhabdomyosarcomas are rare in adults, the literature regarding their management is limited, and the optimal chemotherapeutic regimen remains to be defined in this unique population.

Cytogenetics of primary embryonal rhabdomyosarcoma of the cheek

Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour of childhood and has two main subtypes: embryonal and alveolar. The embryonal subtype accounts for most cases in the genitourinary tract and head and neck. Oral presentations are rare, and mainly in the tongue, palate, or cheek. Cytogenetically, alveolar RMS is characterised by the translocation t(2;13)(q35;q14), which plays an important part in diagnosis, but no consistent and unique genetic alterations have been identified in embryonal RMS. It is currently not known whether oral embryonal RMS is similar to those that arise from other sites, as only one cytogenetic report has been published to date. We present the case of a 9-year-old boy with embryonal RMS of the cheek, and discuss the cytogenetic alterations in his case.

Primary Renal Embryonal Rhabdomyosarcoma in Adults: A Case Report and Review of the Literature

Adult renal rhabdomyosarcoma is a rare subtype of renal sarcoma. We present a case of a renal mass treated with radical nephrectomy that subsequently was shown to be renal rhabdomyosarcoma. We discuss the clinical presentation, imaging findings, and histology for this case and review the available literature.

Primary Embryonal Rhabdomyosarcoma of the Prostate in Adults

This study reports on a case of an adult patient with embryonal rhabdomyosarcoma of the prostate and comprehensively reviews the world literature on this subject. The patient was a 49-year-old man with advanced stage disease, who initially underwent transurethral tumor resection and after diagnosis was given courses of chemotherapy prior to undergoing radical cystoprostatevesiculectomy. The tumor underwent histological examination supplemented by immunohistochemical analysis. After surgery, the patient experienced a huge pelvic recurrence and eventually died of disease 1 year after the original diagnosis. The world literature was reviewed based both on a PubMed/Medline search and the reference lists of all the available publications on this subject and only 24 cases of primary embryonal prostatic rhabdomyosarcoma have been found in the world literature in adult males (≥ 18 years). Embryonal rhabdomyosarcoma of the prostate in adults is a very rare and aggressive disease. The long-term disease-specific survival rate is poor. Stage influences the outcome. Early diagnosis and complete surgical resection offer patients the best chance of improved survival.

Primary Embryonal Rhabdomyosarcoma of the Prostate in an Adult

Primary Embryonal Rhabdomyosarcoma of the Prostate in an Adult

Pneumothorax récidivant révélateur d’un rhabdomyosarcome primitif de la plèvre

Rhabdomyosarcoma is the most common soft tissue sarcoma in the first two decades of life. Its most common location is the head and neck. It rarely arises in the thorax including the pleura. There are only 7 previously reported cases in the literature. We report a case of primary pleural rhabdomyosarcoma with an unusual clinical presentation and location. Our aim is to discuss the clinical presentation, treatment and prognosis of this uncommon location of rhabdomyosarcoma. We report a case of primary embryonal rhabdomyosarcoma of the pleura in a boy of 21 months. The presentation was characterized by recurrent spontaneous pneumothorax. A computed tomography scan showed only pleural detachment with no evidence of any pleural disease. The malignant cells incidentally found in routine pleural biopsy were the diagnostic clue. The rhabdomyoblastic nature of these cells was confirmed by positive immunostains for myoD1 and desmin. Investigation for metastases was negative. Despite chemotherapy, the tumour quickly increased in size and the infant died from acute respiratory failure. Thoracic rhabdomyosarcoma is rare and remains clinically silent for a long time. Its management is still controversial. Prognosis is generally poor when compared with other locations.

Primary Ovarian Rhabdomyosarcoma With Heterologous Elements: A Case Report

Primary ovarian rhabdomyosarcoma with heterologous elements is a rare ovarian neoplasm. Most cases reported in the English literature were associated either with teratomas or with mixed mullerian tumors. Pure primary rhabdomyosarcoma is extremely uncommon. We present hereby a case of primary pure embryonal rhabdomyosarcoma in a 25-year-old woman, showing heterologous elements, but associated neither with teratoma nor with mixed mullerian tumors.

Successful treatment of a child with a primary intracranial rhabdomyosarcoma with chemotherapy and radiation therapy

Primary rhabdomyosarcoma of the central nervous system (CNS) is rare in both adults and children (Taratuto et al. (1985) Acta Neuropathol (Berl) 66(2):98-104). The outcome in the majority of cases is poor, and many cases are associated with early mortality (Celli et al. (1998) J Neurooncol 36(3):259-267). There are very few cases reported in the literature of survival beyond 2 years after diagnosis. We report a case of primary intracranial embryonal rhabdomyosarcoma in a 5-year-old girl who was treated successfully with local radiation therapy (RT) and a combination of two different chemotherapeutic regimens. The patient is clinically well 26 months after diagnosis, with no definitive evidence of residual disease.

Primary Embryonal Rhabdomyosarcoma of the Breast

Primary Embryonal Rhabdomyosarcoma of the Breast

Primary embryonal botryoid-type rhabdomyosarcoma of the liver

Primary intrahepatic rhabdomyosarcoma is extremely rare in children. Here, we describe a case of embryonal botryoid-type rhabdomyosarcoma in the liver of a 6-year-old boy. The patient presented with an abdominal mass and there were no abnormal findings on serological and biochemical testing. Preoperative imaging studies revealed a large mass in the left lobe of the liver and no lesions elsewhere in the abdomen. The tumor was removed via an extensive left hepatectomy. Histological examination confirmed a botryoid variant of embryonal rhabdomyosarcoma. Abdominal ultrasonography and computed tomography are valuable for preoperative planning and for post-surgical follow-up in cases of rhabdomyosarcoma.

Rhabdomyosarcoma of the breast

Aim The aim of this study was to describe the first imaging studies of a primary embryonal rhabdomyosarcoma of the breast in an adult woman. Patient This 45-year-old woman was seen for investigation of a palpable mass in the left breast. Examinations included mammography, Doppler ultrasound, and MRI. The diagnosis was made after surgical biopsy. Treatment consisted in neoadjuvant chemotherapy, followed by quadrantectomy and interstitial curietherapy. Imaging studies were performed both prior to and during therapy (i.e., after three then after six courses of chemotherapy). Imaging findings were correlated with histopathological findings. Results Mammography was not very contributive as the breasts were dense, particularly in the external left quadrants. On ultrasound, the mass had a tissue density and sharp contours; the mass was not highly vascularized on Doppler. MRI revealed a mass that enhanced markedly on both early and late contrast-enhanced T1-weighted sequences and was hyperintense on T2-weighted sequences. MRI appeared to be the best technique for the evaluation of the residual tissue. Conclusion Rhabdomyosarcoma is a rare tumor in adults; to our knowledge, this is the first report describing the imaging features and value of MRI for the work-up and follow-up of mammary rhabdomyosarcoma.