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)

Leiomyosarcoma in the pediatric age group is uncommon and incompletely characterized. A series of 20 primary leiomyosarcomas of soft tissue occurring in children younger than 16 years is presented. No significant gender predilection was observed (11 girls and 9 boys). Patient age ranged from 4 to 15 years (median, 12 years). Tumor size ranged from 0.5 to 13 cm (median, 2.5 cm); subcutaneous and deep locations were equally represented. Tumors were evenly distributed among the trunk (30%), head and neck (25%), lower limbs (25%), and upper limbs (20%). All lesions showed at least focally typical features of smooth muscle differentiation, principally in the form of fascicles of eosinophilic spindle cells with cigar-shaped nuclei. An unusual whorled growth pattern was seen in two cases. Morphologic variants including inflammatory leiomyosarcoma (one case), granular cell leiomyosarcoma (two cases), giant-cell rich leiomyosarcoma (two cases), and epithelioid leiomyosarcoma (one case) were seen. Dystrophic calcifications were present in two cases. Most lesions (85%) were low grade. Immunohistochemical staining showed positivity for alpha-smooth muscle actin in 89% of the cases, HHF-35 in 87%, and desmin in 61%. Positivity for cytokeratins, observed in 6 (43%) of 14 cases tested, was usually strong and was diffuse in two cases. Follow-up data, available in 15 (75%) patients (median duration, 49 months), showed late local recurrence in only two cases, one with progression to a higher grade lesion, and no metastasis. These results show that, although extremely rare, soft-tissue leiomyosarcomas do occur in children, in whom they usually present as small morphologically low-grade lesions that seem to behave in a relatively indolent fashion, although longer follow-up data are needed. Differential diagnosis in this setting includes infantile myofibromatosis, leiomyoma, monophasic synovial sarcoma, and spindle cell rhabdomyosarcoma.
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PMID:Leiomyosarcoma of soft tissue in children: clinicopathologic analysis of 20 cases. 1040 97

Forty-three children with nonrhabdomyosarcomatous soft tissue sarcomas (NRSTS) were treated at the Northern Israel Oncology Center in Haifa, Israel, from 1971 to 1996. The male:female ratio was 1.5:1 and the median age of patient was 10 years (range, 3 months-18 years). The most common histopathologic diagnoses were fibrosarcoma (32.5%) and synovial sarcoma (16%). The sites of primary tumor were lower limb (35%), trunk (18%), upper limb (16%), head and neck (16%), and retroperitoneum (11%). By Intergroup Rhabdomyosarcoma Study classifications, 13 patients presented as group I, 15 patients as group II, 10 patients as group III, and 5 patients as group IV. Median follow-up time was 63 months (range, 6 months-18 years). The estimated survival after a 5-year period is 72% (SE +/- 17) for patients in group I, 75 +/- 15% in group II, 90 +/- 9% for patients in group III, and 40 +/- 21% for patients in group IV. Eleven patients relapsed; 4/6 who developed local relapse were cured and are alive with disease, while 4/5 who developed distant metastases are dead. For the 28 patients who underwent complete resection at diagnosis, the estimated survival after a 5-year period is 87 +/- 5% vs. 60 +/- 17% for the 15 patients who underwent partial excision or biopsy. Local radiotherapy was delivered after surgery to group III patients. Preoperative and postoperative chemotherapy was delivered to the patients of groups III and IV, and postoperative chemotherapy only to group II patients. Chemotherapy produced demonstrable gain in survival for group II and III patients but not for patients with metastases. The authors conclude that an aggressive surgical approach is needed in patients with NRSTS. Chemotherapy may help as a preoperative treatment in bulky disease or as a postoperative treatment for microscopic residual disease.
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PMID:The role of chemotherapy in childhood soft tissue sarcomas other than rhabdomyosarcomas: experience of the Northern Israel Oncology Center. 1050 15

Sarcomas are rare malignancies of mesenchymal origin. Computed tomographic and magnetic resonance imaging characteristics, as well as histologic findings and epidemiology, of sarcomas of the head and neck are reviewed. The sarcomas discussed include rhabdomyosarcoma, fibrosarcoma, osteosarcoma, chondrosarcoma, malignant fibrous histiocytoma, leiomyosarcoma, alveolar soft part sarcoma, Ewing's sarcoma, and synovial sarcoma. The imaging findings of these entities frequently are nonspecific. Imaging, particularly magnetic resonance imaging, has a major role in defining the extent of these tumors. This is important because complete surgical excision is the preferred method of treatment. Imaging also is useful in planning radiation therapy and determining prognosis.
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PMID:Sarcomas of the head and neck. 1064 80

Primary tumors of the heart, with the exception of atrial myxomas, occur rarely; tumors metastatic to or directly invasive of the heart are far more common. About 75% of primary tumors are benign, and 75% of these are atrial myxomas. The benign tumors include rhabdomyomas, fibromas, papillary fibroelastomas, hemangiomas, pericardial cysts, lipomas, hamartomas, teratomas, mesotheliomas, and paragangliomas or pheochromocytomas. The last 3 may also be malignant. The malignant tumors consist of various sarcomas: myxosarcoma, liposarcoma, angiosarcoma, fibrosarcoma, leiomyosarcoma, osteosarcoma, synovial sarcoma, rhabdomyosarcoma, undifferentiated sarcoma, reticulum cell sarcoma, neurofibrosarcoma, and malignant fibrous histiocytoma. Cardiac tumors produce a large variety of symptoms through any of 4 mechanisms. Their mass can obstruct intracardiac blood flow or interfere with valve function. Local invasion can lead to arrhythmias or pericardial effusions with tamponade. Bits of tumor can embolize, causing systemic deficits when the tumors are on the left side of the heart. Finally, the tumors may cause systemic or constitutional symptoms. Some tumors, of course, produce no symptoms and become evident as incidental findings. The most useful diagnostic tool is the echocardiogram, which in almost all cases precisely locates the tumor and defines its extent. The echocardiographic appearance may also allow quite accurate prediction of the tumor type and whether it is malignant or benign. Magnetic resonance imaging serves as the next most important test where the density of T1 and T2 images may allow tumor cell type identification. With few exceptions, these tumors require operative excision. Most benign tumors can be resected completely; a few, because of their large size, cannot be, and only tumor debulking may be possible. Heart transplantation should be considered for these patients. Many of the malignant tumors cannot be resected completely, either because of the extent of local spread and invasion or because of the frequent distant metastases. Transplantation may also be an option for those with extensive local disease. The long-term results for resected benign tumors are excellent; the long-term results for sarcomas are very poor, and there are few survivors. For patients with unresectable sarcomas, radiation and chemotherapy may be used, but without great expectation of successful results.
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PMID:Unusual primary tumors of the heart. 1080 31

The authors examined 8 patients with pretreated relapsing or resistant solid tumors (Wilms'--4, rhabdomyosarcoma--3, synovial sarcoma--1) who received 16 courses of chemotherapy: iphosphamide, 1800 mg/m2/day (days 1-5), vepeside, 100 mg/m2/day (days 1-5), and carboplatin 500 mg/m2/day (day 1) (IVC) and 18 courses of therapy wherein iphosphamide was replaced by cyclophosphanum, 400 mg/m2/day (days 1-5) (CVC). The patients received 2-4 induction courses (n = 18) and 1-5 consolidation courses (n = 16) with reinfusion of peripheral stem cells (PSC). All PSC separations were performed after the first or second courses of IVC/CVE. There were no significant increases in the duration of leukopenia and thrombocytopenia, in the incidence of infection with a higher ordinal of a course performed by PSC maintenance. The findings suggest that the small doses of PSC stimulated by colony-stimulating factor can maintain hemopoiesis and decrease the rate of the estimated bone marrow depletion long after repeated courses of chemotherapy in patients with prognostically poor solid tumors.
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PMID:[Use of subgrafting doses of peripheral stem cells is a new approach to overcoming hematological toxicity of multiple intensive courses of chemotherapy in children]. 1094 56

Synovial sarcoma in children below the age of 10 years is rare. We report on three cases of synovial sarcoma which were diagnosed in three children aged 3, 8 and 8 years, respectively. These tumors were located in the hip of the 8-year-old, the foot of the 3-year-old, and the elbow of the other 8-year-old. Histologically, one tumor was a biphasic synovial sarcoma, and the other two, which had been initially diagnosed as infantile fibrosarcoma, were of the monophasic fibrous type. In the three cases, a reverse transcription-polymerase chain reaction (RT-PCR) using ribonucleic acid extracted from formalin-fixed, paraffin-embedded tissues detected SYT-SSX1 fusion gene transcripts resulting from translocation t(X;18)(p11.2;q11.2), which is specific for synovial sarcoma. ETV6-NTRK3 fusion gene transcripts that result from t(12;15)(p13;q25), which is characteristic of congenital/infantile fibrosarcoma, were not demonstrated. In conclusion, other pediatric soft tissue sarcomas, such as congenital/infantile fibrosarcoma, spindle cell rhabdomyosarcoma, leiomyosarcoma and malignant peripheral nerve sheath tumor, should be distinguished from synovial sarcoma in children, especially the monophasic fibrous type. RT-PCR analysis is a useful approach to the final diagnosis of synovial sarcoma arising at such an early age.
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PMID:Synovial sarcomas of three children in the first decade: clinicopathological and molecular findings. 1110 54

Malignant rhabdoid tumor of the kidney (MRTK) is a highly aggressive tumor which occurs in childhood and which is histologically characterized by the existence of eosinophilic intracytoplasmic inclusions. We established and characterized a cell line from this tumor with histological, immunohistochemical and cytogenetical analysis. Histologically, the tumor cells demonstrate typical eosinophilic inclusions, while immunohistochemically the cells demonstrate common mesenchymal and epithelial differentiation. Although the conventional karyotyping of this tumor lacked the abnormalities of 22q chromosome, Southern blot analysis and microsatellite analysis verified abnormalities of the BCR gene and of the hSNF5/INI1 gene. Despite the variety of locations, these common genetic abnormalities appear to contribute to distinguish rhabdoid tumor from such other small round cell tumors as primitive neuroectodermal tumor, rhabdomyosarcoma, poorly differentiated synovial sarcoma and desmoplastic small round cell tumor.
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PMID:Establishment and characterization of malignant rhabdoid tumor of the kidney. 1111 67

This paper highlights the role of fine-needle aspiration cytology (FNAC) in 15 cases of metastatic soft-tissue sarcomas involving lymph nodes. Histopathology reports of the primary tumor were available in all cases. Histological diagnoses correlated well with the cytology reports. The most common type of sarcoma to involve the lymph node was embryonal rhabdomyosarcoma (6 cases), followed by synovial sarcoma (2 cases), leiomyosarcoma (2 cases), malignant fibrous histiocytoma (2 cases), fibrosarcoma (1 case), malignant peripheral nerve sheath tumor (1 case), and rhabdomyosarcoma (1 case). FNAC was thus helpful in the early diagnosis, proper staging, and management. Importantly, it obviated a lymph node biopsy in the majority of cases.
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PMID:Fine-needle aspiration biopsy of metastatic soft-tissue sarcomas to lymph nodes. 1128 16

Low-affinity nerve growth factor receptor (p75) is a member of the tumor necrosis factor receptor family. It may modulate the binding of nerve growth factor (NGF) to the functional high-affinity receptor tyrosine kinase (trk) A. NGF is thought to be responsible for growth, apoptosis, and function of the nervous system. The presence of this receptor (p75) was determined in a large group of neural and nonneural tumors and fetal and adult tissues. One thousand one hundred fifty tumors were analyzed with monoclonal antibody for p75, along with selected normal fetal and adult tissues. Immunoreactivity for p75 was present in adult pericytes, perivascular fibroblasts, basal cells of several types of epithelia, perineurial cells, and dendritic reticulum cells. Additionally, a wide zone of subepithelial mesenchyme and skeletal muscle were positive in the first-trimester fetus, but were diminished or negative in the adult. Consistently positive nonneural mesenchymal tumors included dermatofibrosarcoma protuberans (DFSP), embryonal and alveolar rhabdomyosarcoma, synovial sarcoma, and spindle cell hemangio(endotheli)oma. Schwann cell tumors, ganglioneuroma, granular cell tumor, and malignant peripheral nerve sheath tumor (MPNST) were also p75 positive. Mesenchymal nonneural tumors that were variably positive (32% to 69%) for p75 included fibrosarcoma variants, solitary fibrous tumor, hemangiopericytoma, spindle cell lipoma, Ewing's sarcoma, mesenchymal chondrosarcoma, and malignant melanoma. Nervous system tumors such as paragangliomas, neuroblastoma, meningioma, and perineurioma and nonneural mesenchymal tumors, including extraskeletal osteosarcoma, benign fibrous histiocytomas, fibromas, alveolar soft part sarcoma, epithelioid sarcoma, smooth muscle and gastrointestinal stromal tumors, and angiosarcomas, were almost always negative for p75. Epithelial tumors that were consistently positive included mixed tumor and adenoid cystic carcinoma, whereas mesothelioma, adenocarcinomas, and most squamous cell carcinomas were negative. p75 is not a specific marker for nerve sheath tumors. It is present in a variety of other mesenchymal tumors including synovial sarcoma and in CD34-positive tumors such as DFSP, spindle cell lipoma, and hemangiopericytoma. The presence of p75 in nonneural tumors such as DFSP and rhabdomyosarcoma mimic its presence in early fetal mesenchyme and skeletal muscle, suggesting oncofetal expression in these tumors. p75 may be useful to distinguish DFSP from benign fibrous histiocytoma.
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PMID:Low-affinity nerve growth factor receptor (p75) in dermatofibrosarcoma protuberans and other nonneural tumors: a study of 1,150 tumors and fetal and adult normal tissues. 1156 28

Rhabdomyosarcoma (RMS), the most common soft tissue sarcoma of childhood, displays a variety of histologic patterns. Immunohistochemistry is used extensively to distinguish RMS from its mimics. Myogenin and MyoD1, myogenic transcriptional regulatory proteins expressed early in skeletal muscle differentiation, are considered sensitive and specific markers for RMS and are more specific than desmin and muscle-specific actin and more sensitive than myoglobin. Previous studies have focused on expression of myogenin and MyoD1 in small round cell tumors. This study assesses myogenin and MyoD1 in rhabdomyosarcoma subtypes and spindle cell tumors considered in the differential diagnosis of RMS. Formalin-fixed, paraffin-embedded archival tissue from 32 RMS, 107 non-RMS, and 11 benign skeletal muscle samples was stained for myogenin and MyoD1 with standard immunohistochemical techniques. Nuclear positivity was scored on a three-tiered scale. All RMSs expressed myogenin. Alveolar RMS (ARMS) showed strong nuclear staining, especially in tumor cells lining fibrous septae and perivascular regions. In cases with a subtle alveolar architecture on routinely stained sections, myogenin highlighted and enhanced visualization of the alveolar morphologic pattern. Embryonal RMSs (ERMSs) were more variable in myogenin staining pattern and intensity. No cases of nodular fasciitis, malignant fibrous histiocytoma, malignant peripheral nerve sheath tumor, inflammatory myofibroblastic tumor, myofibrosarcoma, leiomyoma, leiomyosarcoma, or alveolar soft part sarcoma stained for myogenin. Focal nuclear reactivity was seen in desmoid (2 of 10), infantile myofibromatosis (2 of 10), synovial sarcoma (1 of 10), and infantile fibrosarcoma (2 of 10). Non-neoplastic skeletal muscle fiber nuclei stained positively for myogenin in both tumor-associated samples (25 of 40) and benign skeletal muscle samples (5 of 11). Although all RMSs were immunoreactive for MyoD1, cytoplasmic and nonspecific background staining and reactivity of nonmyoid tissues hindered its practical utility in paraffin-embedded samples in this study. Although myogenin is a highly sensitive and specific marker for RMS, it is rarely seen in other spindle cell soft tissue tumors. As previously reported, ARMS stained more strongly than ERMS. In contrast to previous studies, rare non-RMS (7 of 107) displayed focal nuclear reactivity, and entrapped atrophic or regenerative skeletal muscle fibers also stained positively. Although these are potential pitfalls in the interpretation of myogenin, careful attention to morphology and other features, to the relative paucity of myogenin-positive nuclei in non-RMS. and to the presence of entrapped muscle fibers should prevent incorrect interpretation. Because the extent of myogenin expression in RMS is much greater than in non-RMS, it is a very useful marker when interpreted in the context of other clinicopathologic data.
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PMID:Are myogenin and myoD1 expression specific for rhabdomyosarcoma? A study of 150 cases, with emphasis on spindle cell mimics. 1168 74


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