Diagnosis Of Embryonal Rhabdomyosarcoma Research Articles

A Grasp-Like Vaginal Lesion in a 15-Months-Old Child: A Case Report

ABSTRACT Introduction and importance: Rhabdomyosarcoma is the most common pediatric soft tissue sarcoma. It constitutes 4 – 6% of all malignancies in childhood. The botryoid variant is a type of ERMS that is the most common malignancy in the pediatric female genitourinary tract. ERMS of the vagina usually occurs in early childhood, whereas ERMS of the uterus occurs later in age. Since 1959, only 7 cases of uterine botryoid ERMS during infancy have been reported. Case presentation: A 15-months-old girl was admitted to our ED for three reddish, smooth, glistening, polypoidal masses protruding from her vaginal introitus for 9 days. The lesions had a suspicious “grape-like” appearance and tended to come in and out through the vaginal ostium. A pelvic US examination on the patient showed an inhomogeneous aspect of the uterus, which appeared to be occupied and stretched out by an iso-hypoechogenic solid tissue. Additionally, there were some hyperechogenic spots inside as well as evidence of vascular signals on color doppler. A surgical biopsy revealed a malignant mesenchymal tumor consistent with the diagnosis of embryonal rhabdomyosarcoma (ERMS), botryoid variant. Clinical Discussion: The patient completed her first cycle of chemotherapy with ifosfamide, vincristine, and dactinomycin (IVA). When she was 18 months old, she underwent a hysterectomy, which removed the entire mass with a Pfannenstiel approach. The postoperative course presented with no complications. Follow-up visits were scheduled quarterly. Conclusion: Botryoid ERMS of the uterus is a diagnosis not to be missed in an infant. Since rapid diagnosis and treatment are necessary, clinicians should be aware of its presentation to assure optimal management. Highlights:

Cytologic diagnosis of metastatic embryonal rhabdomyosarcoma in cerebrospinal fluid: A case report.

Rhabdomyosarcoma (RMS) originates from a differentiation block in muscle progenitors. Leptomeningeal metastasis is a rare but devastating complication of RMS which can be caused by dissemination of cancer cells in cerebrospinal fluid (CSF). Here, we present a 4-year-old female with RMS originating from the upper nasal wall. The following histologic and immunohistochemistry analyses combined with molecular testing analysis supported the diagnosis of embryonal rhabdomyosarcoma (ERMS). Results from CSF routine test, magnetic resonance imaging scans and CSF cytology indicated metastatic meningitis, thus confirming the diagnosis of metastatic ERMS in CSF. This is the first report to describe the clinical features of ERMS in CSF.

An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome

Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.

Orbital Cavitary Rhabdomyosarcoma

Orbital cavitary rhabdomyosarcoma has been previously reported in 2 cases. The case presented here was a 15-year-old boy who had proptosis, pain, periorbital hyperemia, and visual loss in his OD, which progressed in 6 weeks. Radiologic studies demonstrated a well-demarcated, multilobulated, large mass with cavities, extending from the anterior orbit to the apex, suggesting a diagnosis of venolymphatic malformation with an intrinsic hemorrhage. On surgery, a multilobular, hemorrhagic cystic mass was almost completely excised. Histologic examination revealed a diagnosis of embryonal rhabdomyosarcoma. After postoperative chemotherapy and radiotherapy, the tumor did not recur during a follow-up period of 45 months. This case, together with the previous ones, suggests that cavitary orbital rhabdomyosarcomas may have some distinct clinical, radiologic, and surgical characteristics.

Embryonal Rhabdomyosarcoma of the Uterine Cervix in a 41-Year-Old Woman

Rhabdomyosarcoma (RMS) of the cervix in women older than 40 years of age is extremely rare. Embryonal RMS can appear deceptively benign both clinically and histopathologically. Diagnosis is made on the basis of histomorphologic and immunohistochemical findings. A high index of suspicion is, however, needed to make the diagnosis, as they can masquerade as benign polyps. A 41-year-old female with cervical RMS is described here. The initial biopsy diagnosis of embryonal RMS was confirmed on subsequent hysterectomy. The present case report is described with emphasis on histopathologic features and diagnostic difficulties along with a brief review of the literature.

Gingival rhabdomyosarcoma in an adult: a unique entity

Rhabdomyosarcoma is a disease that predominantly affects children. Approximately 40 per cent are located in the head and neck region but it is rare in the oral cavity. This article describes an interesting case of an embryonal rhabdomyosarcoma in a 36-year-old male, involving the mandibular gingiva. The lesion showed radiolucency with ill-defined margins that was crossing the midline. The history revealed a similar lesion six months back at the same site and the lesion had been completely excised. The biopsy reports confirmed the diagnosis of embryonal rhabdomyosarcoma after which en-bloc resection of the tumor was performed with administration of chemotherapy and radiotherapy. Due to high recurrence rate of rhabdomyosarcomas in adults, multimodal therapy should be planned for proper care of the patient. Clinical, radiological, histopathological and management aspects are discussed here.

Embryonal rhabdomyosarcoma of the caruncle in a 4 year-old boy: case report

Rhabdomyosarcoma is a rare tumor, with an annual incidence of 4.3 cases per million children. Even thought, it is the most common soft tissue sarcoma in childhood, with a mean age of 6 to 8 years at diagnosis. A 4 year-old boy presented with a history of a fast growing (1-month) nodular lesion in the caruncle of his left eye. Slit lamp examination showed a vascularized solid nodular lesion in the semilunar fold. The lesion was surgically removed obtaining infiltrated edges with tumoral cells. A second surgery was performed with free tumour edges. The diagnosis of embryonal rhabdomyosarcoma, botryoid type, of intermediate differentiation was made. The treatment for botryoid rhabdomyosarcoma is basically surgical with the combined use of adjuvant polychemotherapy. In adolescent or adult patients (not in infants where growth bone disturbances can occur) external beam radiotherapy can be combined with chemotherapy. Rhabdomyosarcomas of the conjunctiva without orbital extension are rarely reported. We presented a case of a child with a rare tumor which we had a high suspicion of malignancy and early diagnosis and treatment and child is free of systemic disease 6 and half years later. Our research group believes that the key in these tumors is the high index of suspicion and early treatment.

Orbital Embryonal Rhabdomyosarcoma with Metastasis in a Young Dog

A 2-year-old male Welsh corgi dog was brought to an animal hospital because of left upper eyelid enlargement with lachrymal gland protrusion. The lachrymal and orbital cavity mass was removed surgically. Microscopically, the orbital mass consisted of a mixture of large rhabdomyoblastic and small round tumour cells. Immunohistochemically, the rhabdomyoblastic cells expressed desmin and myoglobin and the small round cells expressed desmin, myogenin and MyoD1. A diagnosis of embryonal rhabdomyosarcoma (ERS) was made. One month later, multiple masses throughout the body were identified, in particular around the cervical region. One of these lesions was sampled and diagnosed as metastatic ERS. The dog died 84 days after the time of first admission.

Appearance and clinical value of MRI in sinonasal embryonal rhabdomyosarcoma

To investigate the appearance and clinical value of MRI in the diagnosis of embryonal rhabdomyosarcoma in nasal cavity and paranasal sinuses. The clinical, pathological and MRI findings of five patients with pathology proved embryonal rhabdomyosarcoma in nasal cavity and paranasal sinuses were retrospectively analyzed. The major clinical symptoms included nasal obstruction (4 cases), exophthalmus (4 cases), decreased eyesight (2 cases), epistaxis (1 case), decreased olfactory sensation (1 case) and restriction of eyeball movement (1 case). All 5 cases involved multi-location. Among them, 4 cases mainly located in the ethmoid sinus, one mainly located in the nasal septum. According to the IRS, 1 case was at stage II, the other 4 cases were at stage III. Compared to the grey matters, on T1 weighted image, the masses were homogenously isointensity in 2 cases, isointensity with patchy hyperintensity in 3 cases. On T2 weighted images, the masses were slightly hyperintensity with patchy hypointensity in 2 cases. Slightly hyperintensity with patchy hyperintensity in 3 cases. All 5 cases were markley heterogeneously enhanced after administration of contrast agents, with patchy of non-enhanced area. Of them, two were grape-like enhanced. Four cases presented with intratumor hemorrhage. Five with bony destruction. All of the 5 cases showed orbits and anterior cranial fossa meningeal involvement. There are some special MRI findings in embryonal rhabdomyosarcoma located in nasal cavity and paranasal sinuses. MRI can depict the encroachment of the tumor accurately, and may play an important role in clinical staging and in curative effect evaluation.

Embryonal Rhabdomyosarcoma

The aim of this retrospective study was to evaluate differences in treatment of embryonal rhabdomyosarcoma (RMS) of the uterus in 2 premenopausal women. We discuss adjuvant chemotherapy and use of ChemoFx Assay (Precision Therapeutics, Pittsburgh, PA) to guide choice of active chemotherapeutic agents. Two premenopausal patients were identified with a pathologic diagnosis of embryonal RMS of the uterus. Both met inclusion criteria for the study. A 21-year-old woman underwent a staging abdominal hysterectomy for a variant of embryonal RMS. Vincristine, actinomycin D, and cyclophosphamide were given adjunctively for a complete response. A 20-year-old woman underwent a diagnostic dilation and curettage revealing embryonal RMS. Initial treatment included an abdominal hysterectomy and nodal sampling. Presentation to a subsequent gynecologic oncologist 7 months later revealed recurrence. Carboplatin, doxorubicin, and paclitaxel provided a partial response. After a second surgical resection, ChemoFx Assay identified ifosfamide and mitomycin C as active agents and resulted in a complete response. Recommended treatment includes surgery and chemotherapy with possible radiation therapy if deemed necessary. The benefit of adding neoadjuvant or adjuvant chemotherapy and radiation therapy allows for a conservative surgical approach and improved survival. Choosing active chemotherapy agents can be aided by ChemoFx Assay. The chemotherapy most commonly used for treatment of embryonal RMS is a combination of vincristine, actinomycin D, and cyclophosphamide.

Embryonal rhabdomyosarcoma of the chest wall: A case report and review of the literature

Embryonal rhabdomyosarcoma is a soft-tissue sarcoma which has a predilection for the head and neck area, genitourinary tract and the extremities. We report a rare case of embryonal rhabdomyosarcoma of the chest wall in an 8-year-old girl, presenting as a destructive tumor in the rib and clinically and radiologically mimicking Ewing's sarcoma. Histopathological examination showed a small round cell tumor. Immunohistochemically, the positivity for muscle markers desmin and myogenin in the tumor cells proved to be useful for making a definitive diagnosis of embryonal rhabdomyosarcoma. Cytogenetic analysis revealed a high level of aneuploidy in the tumor cells, with double-minutes and additional chromosomal structural aberrations. The patient is responding well to chemotherapy.

Rhabdomyosarcoma of the Maxillary Gingiva

Rhabdomyosarcoma is a malignant neoplasm of primitive mesenchyme exhibiting skeletal muscle differentiation. Oral rhabdomyosarcoma is rare and accounts for only 0.04% of all head and neck malignancies. A 33-year-old woman presented with an erythematous gingival mass involving the anterior maxillary gingiva. The lesion had been present for > or =13 months before presentation, and in recent months, it had become intermittently painful. Clinical examination exhibited erythema and enlargement of the interdental papillae between the left maxillary canine, lateral incisor, and central incisor. The tissue was boggy and tender on palpation. Incisional biopsies were performed, and microscopic examination showed a cellular proliferation of spindle-shaped to ovoid cells with hyperchromatic, enlarged, and pleomorphic nuclei. Many of the tumor cells exhibited abundant eosinophilic cytoplasm. Immunohistochemical stains showed the tumor cells to be positive for desmin, myogenin, and myogenic differentiation 1 (MyoD1). A diagnosis of embryonal rhabdomyosarcoma was made. The patient was treated by surgical resection with postoperative chemotherapy and radiation. The patient had no evidence of disease at a follow-up examination 1 month after completion of therapy. Oral rhabdomyosarcoma can develop insidiously. Pain is a variable presenting symptom, and early lesions may be mistaken for benign neoplastic, inflammatory, or infectious processes. Over several decades, a multidisciplinary treatment approach that includes surgical removal if resectable, in combination with multiagent chemotherapy and possibly radiation therapy, has improved survival rates.

Pathologic Quiz Case

Pathologic Quiz Case

Clinical Relevance of Molecular Diagnosis in Childhood Rhabdomyosarcoma

Rhabdomyosarcoma may be divided into three subtypes--embryonal, alveolar, and undifferentiated sarcoma--which can be distinguished by molecular analysis. The authors applied reverse transcriptase-polymerase chain reaction analysis (RT-PCR) to analyze tumor samples from 14 children with rhabdomyosarcoma for the presence of the chimeric PAX3-FKHR transcript resulting from the translocation t(2;13)(q35,q14). Both fresh and paraffin-embedded tissues were used. In only nine specimens was the RNA intact for the analysis. The chimeric transcript was identified in seven samples: four alveolar type, one embryonal type, and two undifferentiated sarcoma. Histologic review was performed in the three samples with discordance between the molecular and histologic findings. A sample from a patient with a diagnosis of embryonal rhabdomyosarcoma on presentation and expression of PAX3-FKHR fusion transcript yielded a small focus of alveolar rhabdomyosarcoma and was reclassified as alveolar rhabdomyosarcoma. One of the samples from a patient with undifferentiated sarcoma was redefined as alveolar subtype; the diagnosis of the second undifferentiated sarcoma remained unchanged, in accordance with the histologic diagnosis. These findings further support the recommendation that molecular analysis be included in the diagnostic workup of childhood small round cell tumors to reach a more accurate diagnosis for tailoring of specific treatment.

Desmin, Myoglobin, and Muscle-Specific Actin Immunohistochemical Staining in a Case of Embryonal Rhabdomyosarcoma of the Ovary

A 24-year-old Hispanic woman presented to the Emergency Department complaining of nausea, vomiting, and lower abdominal pain. She was found to have an intrauterine pregnancy of 12 weeks and a 20-cm left ovarian mass. Histological examination of the tumor in conjunction with immunohistochemical staining with desmin, myoglobin, and muscle-specific actin was consistent with a diagnosis of embryonal rhabdomyosarcoma. Postoperatively, the patient received chemotherapy. Nine months after initial surgery, the patient complained of increased abdominal girth and a recurrent 20-cm abdominal pelvic mass was present. Histopathological examination of the tumor revealed embryonal rhabdomyosarcoma showing greater differentiation than the original tumor. Despite repeated surgery, the patient expired 1 month after recurrence. Autopsy revealed extensive metastatic rhabdomyosarcoma with subdiaphragmatic tumor nodules. Primary ovarian rhabdomyosarcoma is an exceedingly rare entity. Immunohistochemistry plays a crucial role in identifying this lesion. The current case adds to the scant literature published on this entity.

Rhabdomyosarcoma with Primary Osteolytic Lesions Simulating Non-Hodgkin's Lymphoma

We report the case of an 8-year-old child presenting with the pathological fracture of two vertebral bodies due to bone lytic lesions. Physical and instrumental examinations did not show any further evidence of disease. However, bone marrow aspirate showed an infiltrate of poorly differentiated cells. When the child was transferred to the Department of Pediatrics, lymphoblastic leukemia was suspected. Although the morphology of the bone marrow biopsy could have suggested a lymphoblastic lymphoma, further immunochemical and immunological studies together with the study of tissue surface antigens resulted in a diagnosis of embryonal rhabdomyosarcoma with an unusual presentation.

Rhabdomyosarcoma involving the oral cavity, mandible, and roots of the third molar: A clinical-pathologic correlation and review of literature

We present a case of a 24-year-old man with an original diagnosis of embryonal rhabdomyosarcoma, presumably of the right masseter or pterygoid muscle, in which the tumor progressed to involve a portion of the mandible and the adjacent intraoral tissues, including the retromolar gingiva and the roots of the third molar. Ultimately, there was widespread metastatic disease

Embryonal rhabdomyosarcoma: Immunohistochemical characterization

A 15-year-old boy was referred to the ear, nose, and throat clinic because of a swelling in the upper premolar region. The initial diagnosis of a poorly differentiated soft-tissue sarcoma was made. Further immunohistochemical studies established a definitive diagnosis of embryonal rhabdomyosarcoma. The tumor cells coexpressed both desmin, the component of muscle type intermediate filaments, and vimentin, which is typically found in mesenchymal tissues. Such coexpression is found in the early stages of myogenic differentiation. Another cytoskeletal protein, actin, was also found in relatively high concentrations. These results suggested the possible use of antibodies to these cytoskeletal proteins as histogenetic markers for the diagnosis of poorly differentiated rhabdomyosarcoma.

Embryonal rhabdomyosarcoma of the head and neck in children.

AbstractThe usual clinical course of children with embryonal rhabdomyosarcoma of the head and neck has been the rapid development of distant metastases and death within one year of clinical presentation. Since 1967, seven children with the diagnosis of embryonal rhabdomyosarcoma have been treated with a specific regimen of surgery, radiation therapy and chemotherapy. All five patients who presented with tumor localized to one region of the head and neck showed objective tumor response. In four patients, the tumor disappeared completely, and there has been no sign of recurrence for five and one half, three and one half, one and one half, and one half years, respectively.