Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rhabdomyosarcoma manifested as a systemic disease is very rare and cases showing diffuse metastasis in the bone marrow are most unusual. Recently we encountered two cases of rhabdomyosarcoma with diffuse bone marrow metastasis which were clinically manifested as acute leukemia. The first patient was a 15-year-old female, who was admitted in 1982 with pancytopenia and many large primitive cells in bone marrow aspirates, hematological malignancy being diagnosed. Thereafter the bilateral breasts showed rapid swelling and a biopsy specimen revealed the histological features of typical alveolar rhabdomyosarcoma. The primary site of the neoplasm remained undetermined during the course. At autopsy, it was disclosed that the neoplasm originated from the left thigh and showed generalized metastasis. The second patient was a 38-year-old man, who was admitted in 1986 because of a nasal polyp obstructing the nasal cavity, and persistent nasal bleeding. Peripheral blood samples showed leukoerythroblastosis and thrombocytopenia, and large primitive cells were found in bone marrow aspirates, so that hematological malignancy was initially diagnosed. A biopsy specimen of the nasal polyp showed proliferation of large round cells and electron microscopy demonstrated the ultrastructural features of rhabdomyosarcoma.
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PMID:Rhabdomyosarcoma with bone marrow metastasis simulating acute leukemia. Report of two cases. 321 18

A rare case of alveolar rhabdomyosarcoma of the urinary bladder, manifested as a systemic disease in a 51-year-old woman, was diagnosed at necropsy. Diffuse lytic bone lesions and extensive bone marrow involvement with a leukoerythroblastic blood picture led to an initial clinical diagnosis of a hematologic malignancy.
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PMID:Disseminated rhabdomyosarcoma of the urinary bladder in an adult. 356 90

Rhabdomyosarcoma presenting as a systemic disease is rare. This report concerns a 12-year-old girl who came to medical attention for what was thought to be a hematologic malignancy. Diffuse lytic bone lesions and large primitive cells in the bone marrow exhibiting erythrophagocytosis supported this diagnosis. During the course of the disease, a soft tissue mass in the region of the left ankle was removed and was a typical alveolar rhabdomyosarcoma. Retrospective review of the marrow, including electron microscopy, demonstrated that the primitive marrow cells were probably rhabdomyoblasts as well. The clinical course was a rapid downhill one in which lytic bone lesions and hypercalcemia were prominent. Although rhabdomyosarcoma eventually may disseminate, initial widespread disease without a clinically apparent primary can be a diagnostic dilemma. This clinical presentation, in combination with the recognized aggressiveness of the alveolar histologic subtype, identifies a rare subgroup of patients with rapidly fatal disease.
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PMID:Systemic rhabdomyosarcoma with diffuse bone marrow involvement. Case report of an unusual presentation. 646 2

We describe two adolescent girls with alveolar rhabdomyosarcoma arising from extremities who developed bilateral breast metastasis in their clinical course. In both cases, there was widespread systemic disease at initial presentation. Although complete remission was achieved on the 25th week post-chemotherapy initiation, the first patient developed breast metastasis in addition to systemic recurrence on the 44th week and expired. For the second patient, breast metastasis was noted in addition to systemic disease at initial presentation. Aggressive chemotherapy with autologous transplant and radiotherapy were given in addition to bilateral subcutaneous total mastectomy. The patient remained in complete remission 3 months post-therapy. We postulate that adolescent females with alveolar rhabdomyosarcoma of the extremities have a high risk of developing breast metastasis in the pubertal period, and aggressive multidisciplinary treatment is indicated.
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PMID:Breast metastasis in adolescents with alveolar rhabdomyosarcoma of the extremities: report of two cases. 873 45

A case of ovarian immature teratoma with rhabdomyosarcomatous recurrence in a 6-year-old girl is described. The primary tumor consisted of a dermoid cyst and a solid nodule composed of mature and immature mesenchymal tissue. The most immature mesenchymal cells showed no distinctive differentiation except for focal rhabdomyoblastic differentiation. The primary tumor was diagnosed as immature teratoma, grade 2, stage IIa. Despite left oophorectomy and excision of uterine serosal implants, chemotherapy, and radiation, four intrapelvic recurrences developed within 3 years. Although the primary tumor contained only a few rhabdomyoblasts, the recurrent tumors became increasingly rhabdomyosarcomatous. The patient died of systemic disease 3 years after presentation. This case and previous reports indicate that the prognosis of patients with ovarian immature teratoma with rhabdomyosarcomatous recurrence is poor and similar to that of primary ovarian rhabdomyosarcoma.
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PMID:Immature teratoma of the ovary with a minor rhabdomyosarcomatous component and fatal rhabdomyosarcomatous metastases: the first case in a child. 1178 30

Emergencies in childhood orbital tumorals are rare. The absolute emergency involves malignant primary orbital tumors, such as rhabdomyosarcoma or secondary malignant tumors (metastatic neuroblastoma, leukemia), involving a vital prognosis requiring prompt diagnosis. Delayed emergencies are usually vascular lesions. Among these lesions, immature orbital hemangioma, with a good prognosis, must be distinguished from orbital adnexal lymphangiomas, which are less frequent but can lead to dramatic cosmetic and functional disorders. In rare cases, they can be responsible for sudden, painful proptosis, due to orbital hemorrhage, with a risk of optic nerve compression, requiring emergency surgical treatment. Neurogenous lesions, either isolated, such as in gliomas, or associated with a systemic disease, such as Recklinghausen neurofibromatosis, threaten the functional prognosis. Diagnosis of pediatric orbital tumors is based on a good clinical examination, precise imaging investigations, and evaluation of the locoregional extension of the tumor. Biopsy is required in emergency situations, when rhabdomyosarcoma is suspected, in order to start the chemotherapy. However, the biopsy can be superfluous, and even useless or dangerous, when clinical and imaging investigations are sufficient to provide a diagnosis of capillary hemangioma, lymphangioma, or metastatic tumor from an abdominal malignancy. Treatment is closely related to the etiopathogenesis of the tumor. The outcomes are vital, functional and cosmetic. They may require orbital surgery (biopsy, tumoral resection, orbital decompression in case of a compressive hemorrhage), systemic corticotherapy (as in immature adnexal hemangioma), radiation, and chemotherapy (rhabdomyosarcoma, secondary malignant tumor). These diseases require a pediatric ophthalmological medical center specializing in orbital surgery, with close collaboration of multiple specialists such as onco-pediatricians and neurosurgeons.
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PMID:[Orbital tumor emergencies in childhood]. 1976 75

We report a rare case of a hepatic carcinosarcoma with rabdomyosarcomatous differentiation in its sarcomatous component. A 71-year old Caucasian female patient underwent a liver resection for a 4-cm lesion developed on an underlying HCV-related cirrhosis. Post-operative course was uneventful and the patient was discharged 5 days after surgery. At pathology, the tumor presented the features of hepatocellular carcinoma and rhabdomyosarcoma Three months later the patient experienced a liver recurrence, dying 2 months later for systemic disease. The reported case presents several peculiarities, i.e. the female gender, the HCV-related cirrhotic status, and the European origin of the patient. However, the outcome of our case confirms that this neoplasm pursues a highly aggressive course with poor prognosis.
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PMID:An unusual case of hepatic carcinosarcoma. 2201 59

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.
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PMID:Embryonal rhabdomyosarcoma of the caruncle in a 4 year-old boy: case report. 2287 6

Rhabdomyosarcomas are the most common soft tissue sarcomas in children. Here we present management of an 18-month-old boy with metastatic rhabdomyosarcoma of the bladder/prostate. After radiochemotherapy, high-spatial-resolution 3-Tesla multiparametric magnetic resonance imaging (MRI) showed regressive systemic disease but a residual mass at the right seminal vesicle. For histologic re-evaluation, 3-dimensional-controlled stereotactic MRI/transrectal ultrasound (TRUS)-fusion biopsy specimens were taken. Because histologic analysis showed nonvital tissue, a decision could be made against adjuvant radical cystoprostatectomy. Advanced 3-Tesla imaging and MRI/TRUS-fusion biopsies in children are feasible and represent an effective tool to examine suspicious pelvic lesions. Depending on histology, this can lead to a significant reduction of therapy-associated morbidity.
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PMID:Pediatric case report on magnetic resonance imaging/transrectal ultrasound-fusion biopsy of rhabdomyosarcoma of the bladder/prostate: a new tool to reduce therapy-associated morbidity? 2337 21

Rhabdomyosarcoma (RMS) represents a rare, heterogeneous group of mesodermal malignancies with skeletal muscle differentiation. One major subgroup of RMS tumors (so-called "fusion-positive" tumors) carries exclusive chromosomal translocations that join the DNA-binding domain of the PAX3 or PAX7 gene to the transactivation domain of the FOXO1 (previously known as FKHR) gene. Fusion-negative RMS represents a heterogeneous spectrum of tumors with frequent RAS pathway activation. Overtly metastatic disease at diagnosis is more frequently found in individuals with fusion-positive than in those with fusion-negative tumors. RMS is the most common pediatric soft-tissue sarcoma, and approximately 60% of all children and adolescents diagnosed with RMS are cured by currently available multimodal therapies. However, a curative outcome is achieved in <30% of high-risk individuals with RMS, including all those diagnosed as adults, those diagnosed with fusion-positive tumors during childhood (including metastatic and nonmetastatic tumors), and those diagnosed with metastatic disease during childhood (including fusion-positive and fusion-negative tumors). This white paper outlines current challenges in RMS research and their implications for developing more effective therapies. Urgent clinical problems include local control, systemic disease, need for improved risk stratification, and characterization of differences in disease course in children and adults. Biological challenges include definition of the cellular functions of PAX-FOXO1 fusion proteins, clarification of disease heterogeneity, elucidation of the cellular origins of RMS, delineation of the tumor microenvironment, and identification of means for rational selection and testing of new combination therapies. To streamline future therapeutic developments, it will be critical to improve access to fresh tumor tissue for research purposes, consider alternative trial designs to optimize early clinical testing of candidate drugs, coalesce advocacy efforts to garner public and industry support, and facilitate collaborative efforts between academia and industry.
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PMID:Rhabdomyosarcoma: current challenges and their implications for developing therapies. 2536 19


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