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)

Esthesioneuroblastoma is a rare malignancy believed to be derived from neuroectodermal stem cells within the olfactory epithelium. We have obtained the karyotype of a primary esthesioneuroblastoma following brief (7-day) in vitro culture, and have determined that the only observable cytogenetic anomaly is the presence of an additional chromosome 8. Previously, the karyotypes of two cell lines established from metastatic esthesioneuroblastomas have been reported to contain the equivalent of three copies of chromosome 8, in addition to other chromosomal aberrations, including the reciprocal translocation, t(11;22)(q24;q12). Examination of the cytogenetic literature suggests that an extra copy of chromosome 8 is a common occurrence in undifferentiated small round cell tumors frequently observed to carry the t(11;22), including esthesioneuroblastoma, Ewing's sarcoma, peripheral neuroepithelioma, Askin's tumor, and rhabdomyosarcoma. These data, combined with our report of a small round cell tumor with the karyotype 47,XY, +8, indicate that trisomy 8 may be a common phenomenon in these tumors, and may also provide some sort of selective advantage to these tumor types.
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PMID:Trisomy 8 in primary esthesioneuroblastoma. 175 79

In spite of the recent and substantial improvements in MR technique, some problems still exist relative to its applications in routine clinical exams in pediatric ophthalmology. The main problems are: inadequate MR equipment, long examination time, and MR inability to demonstrate intraocular calcifications. Ocular and orbital ultrasound (US) studies are highly operator-dependent, and US utility has been especially described in evaluating ocular, but not orbital, lesions. In order to verify the actual role of CT in pediatric ophthalmology, the CT scans of 58 children with ophthalmologic pathologies, performed over a 2-year period, were reviewed and compared with definitive diagnoses. Seven separate CT findings for each pathologic condition were independently analyzed and correlated with histology. In agreement with other CT series, optic nerve gliomas were invariably intraconal, whereas histiocytosis-X, Ewing's sarcoma, olfactory neuroblastoma (esthesioneuroblastoma), metastatic neuroblastoma and nephroblastoma were extra-conal. Rhabdomyosarcoma, principally extraconal, frequently involved the intraconal and preseptal spaces, with permeative destruction of the osseous orbit and frequent intra/extracranial spread. Orbital spread was mainly observed in vascular tumors. CT showed great accuracy in evaluating punctuate calcifications in retinoblastomas and in metastatic neuroblastomas, and bone fragments within a zone of destruction in histiocytosis-X. Various characteristics of CT attenuation values were observed in pathologic tissues, and high attenuation and marked contrast enhancement were particularly observed in metastatic neuroblastomas and rhabdomyosarcomas. In congenital orbital abnormalities and inflammatory diseases, CT readily detected ocular malformations (microphthalmos and colobomata).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Current role of CT in pediatric ophthalmology]. 231 23

Sinonasal neoplasms and neoplasm-like proliferations composed of light microscopically poorly differentiated or undifferentiated, small- to medium-sized cells cause considerable diagnostic confusion. Lesions in this category include lymphoepithelioma (undifferentiated carcinoma), olfactory neuroblastoma, small-cell undifferentiated (oat cell) carcinoma, sinonasal undifferentiated carcinoma, malignant melanoma, pituitary adenoma, lymphoid hyperplasia, malignant lymphoma, plasmacytoma, lymphomatoid granulomatosis, rhabdomyosarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, Ewing's sarcoma, and synovial sarcoma. Many of these lesions can be definitively diagnosed based on light microscopic features alone, but, in some instances, additional techniques such as immunohistochemistry are of value. The authors review the pertinent clinicopathologic features of the above lesions, with emphasis on light microscopic, immunohistochemical, and ultrastructural features of particular utility in differential diagnosis.
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PMID:"Undifferentiated" neoplasms of the sinonasal region: differential diagnosis based on clinical, light microscopic, immunohistochemical, and ultrastructural features. 269 5

Sixty cases of primary malignant tumor of the nasal cavity treated in our hospital between 1962 and 1993 were reviewed. Males were affected 2.8 times more frequently than females. The age at the first consultation ranged from 11 to 92 years, with a mean of 55.1 years. The peak distribution was seen in the 6th decade. Twenty-six cases were epithelial malignancies (squamous cell carcinoma 15; adenocarcinoma 3; adenoid cystic carcinoma 3; undifferentiated carcinoma 3; mucoepidermoid carcinoma 1; malignant mixed tumor 1), while 34 cases were non-epithelial malignancies (malignant melanoma 14; malignant lymphoma 14; plasmacytoma 3; olfactory neuroblastoma 2; rhabdomyosarcoma 1). The most common symptom on presentation was nasal obstruction (66.7%), followed by epistaxis (55.0%). The first recurrence was local in 19 patients, whereas cervical lymph node metastasis occurred in three patients, bone metastasis in two, intraperitoneal metastasis in two, and brain metastasis in one. The overall five-year cumulative survival rate was 48.0%. The five-year survival rates for squamous cell carcinoma, malignant melanoma, and malignant lymphoma were 57.0%, 31.0%, and 40.0%, respectively.
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PMID:Malignant tumors of the nasal cavity: review of a 60-case series. 747 6

To further characterize the distribution of tissue-specific antigens in fish neoplasms, juvenile medaka were exposed to 30 mg/L of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) for 1 hr and allowed to grow out for up to 16 mo. Using a streptavidin peroxidase technique, keratin, vimentin, and neurofilament intermediate filament proteins, and actin and S-100 proteins were labeled in MNNG-induced neoplasms and normal medaka tissues using specific monoclonal or polyclonal antibodies. In vascular tumors, rhabdomyosarcoma, and teratoma, muscle tissues were positive for actin. Other sarcomas including hemangiopericytoma, fascial sarcoma, and undifferentiated sarcoma were negative for all antibodies tested. An unusual scale-associated neoplasm, composed of clusters of scale-forming cells surrounding spicules of scale, had keratin-positive stroma. The epithelial neoplasms were also positive for keratin, except for pancreatic acinar carcinoma, which had limited positivity. Both teratoma and olfactory carcinoma had S-100-positive intraepithelial cells morphologically reminiscent of neurosensory epithelial cells, which were S-100 positive in normal tissues. Although positive reactivity in fish tissues correlated with mammalian data, the antibodies used were raised against mammalian antigens. Therefore, a negative reaction may be indicative of lack of antibody sensitivity to specific fish antigens rather than absence of the antigen in the tissues. However, these data show that tissue-specific antigen detection may assist in elucidating the biology of neoplasia in fish.
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PMID:Reactivity of tissue-specific antigens in N-methyl-N'-nitro-N-nitrosoguanidine-induced neoplasms and normal tissues from medaka (Oryzias latipes). 873 89

To test the sensitivity of the small fish species Oryzias latipes to the direct-acting carcinogen N-methyl-N'-nitro-N-nitrosoguanidine (MNNG), medaka were exposed at 15 days of age to 30 mg/L for 1 hr and followed for up to 16 mo. One hundred neoplasms were diagnosed in 84 of 213 exposed fish, with approximately equal percentages in males and females. Many neoplasms (62%) were of mesenchymal origin and were categorized as blood vascular neoplasms (hemangioma and hemangiosarcoma), invasive sarcomas, and scale-associated neoplasms. Invasive sarcomas included rhabdomyosarcoma, fascial sarcoma, hemangiopericytoma, and undifferentiated sarcoma. A scale-associated neoplasm, termed lepidocytoma, was an unusual neoplasm of scale anlage. Thyroid follicular neoplasms, with a 100% incidence in males, and pancreatic acinar carcinoma were the most common epithelial tumors. Neoplasms of the gills, swim bladder, and olfactory epithelium were also seen as well as teratoma with mixed epithelial and mesenchymal components. The study showed a broad range of neoplasms induced by MNNG in medaka, with a tissue distribution that might support direct action on exposed tissues.
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PMID:N-methyl-N'-nitro-N-nitrosoguanidine-induced neoplasms in medaka (Oryzias latipes). 873 88

Fine-needle aspiration cytology is a valuable technique in the work-up of nodules and masses arising within the head and neck. Squamous cell carcinoma is present most often, and because of this relative frequency, the primary utility of needle-aspiration cytology is in the confirmation or exclusion of this diagnosis. FNA is particularly helpful in the work-up of cervical masses and nodules because biopsy of cervical adenopathy should be avoided unless all other diagnostic modalities have failed to establish a diagnosis. As such, needle-aspiration cytology represents an accurate, inexpensive, and rapid technique for elucidation of the etiology of cervical adenopathy. The majority of aspirates from cervical lymph nodes will disclose either reactive lymphadenopathy or metastatic squamous cell carcinoma. Occasional nodules will be due to lymphoma. While primary diagnosis of lymphoma by needle-aspiration cytology is generally not considered definitive, it is helpful in clarifying the nature of the process and the direction additional diagnostic tests should take. Similarly, establishing the presence of carotid body tumors, brachial cleft cysts or epidermal inclusion cysts excludes metastatic carcinoma and negates the need for open biopsy as well as allaying concerns on the part of both clinician and patient. Fine-needle aspiration of lesions within the mouth, oral pharynx, nasopharynx, and nasal sinuses has similar diagnostic goals, in that eliminating squamous cell carcinoma is its paramount objective. Fine-needle aspiration cytology can also establish a specific diagnosis for many lesions within this area. This technique can make specific diagnoses of angiofibroma, primary adenocarcinoma of the nasal sinuses, rhabdomyoma, granular cell tumor, and rhabdomyosarcoma. Each of these represents an important clinical entity with a specific therapy. Utilizing electron microscopy and immunohistochemical techniques, along with flow cytometry, can greatly broaden the diagnostic range and specificity of needle-aspiration cytology. Flow cytometry and immunohistochemistry are particularly useful in the establishment of monoclonality in lymphoproliferative processes and, hence, aid in the separation of reactive from lymphomatous lymphadenopathy. Immunohistochemistry can establish the precise nature of lesions as variable as rhabdomyosarcoma, olfactory neuroblastoma, and granular cell tumor. The prudent use of these techniques can be cost-effective and negate the need for more invasive diagnostic procedures. Needle-aspiration cytology represents a cost-effective and rapid technique for the assessment of nodules and masses within the head and neck area. Limitations in accuracy exist. In particular, the separation of reactive atypia in benign squamous epithelium from well-differentiated squamous cell carcinoma may be exceedingly difficult, if not impossible. Nonetheless, the technique has a high degree of accuracy for the diagnosis of both primary and metastatic disease.
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PMID:Fine-needle aspiration of the head and neck. 923 65

The sinonasal undifferentiated carcinoma (SNUC) is an aggressive and rare neoplasm arising in the nasal cavity and the paranasal sinuses. To date, over 50 cases of histologically proven SNUCs have been reported since its original description in 1986. Presenting symptoms include facial pain, nasal obstruction, diplopia, epistaxis, proptosis, and periorbital swelling. The histologic features of this neoplasm include cohesive cells arranged in nests, ribbons, and trabeculae. The cells exhibit hyperchromatic nuclei and a high nuclear to cytoplasmic ratio. A brisk mitotic rate, tumor necrosis, and vascular invasion are prominent features. Confirming the diagnosis of SNUC at the light microscopic level can be challenging, since the microscopic differential diagnosis includes olfactory neuroblastoma, rhabdomyosarcoma, undifferentiated nasopharyngeal carcinoma (lymphoepithelioma), malignant lymphoma, malignant melanoma, and neuroendocrine (small cell undifferentiated; oat cell) carcinoma. Sinonasal undifferentiated carcinoma can be differentiated from these other neoplasms by correlating clinical, light microscopic, histochemical, immunohistochemical, and ultrastructural characteristics. Aggressive, multimodal therapy can provide the best opportunity for local control of this neoplastic process, but the optimal treatment has yet to be determined.
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PMID:Sinonasal undifferentiated carcinoma: a distinctive clinicopathologic entity. 1056 93

The term "small round-cell tumor" describes a group of highly aggressive malignant tumors composed of relatively small and monotonous undifferentiated cells with high nuclear to cytoplasmic ratios. This group includes Ewing's sarcoma (ES), peripheral neuroepithelioma (aka, primitive neuroectodermal tumor or extraskeletal ES), peripheral neuroblastoma ("classic-type"), rhabdomyosarcoma, desmoplastic small round-cell tumor, lymphoma, leukemia, small-cell osteosarcoma, small-cell carcinoma (either undifferentiated or neuroendocrine), olfactory neuroblastoma, cutaneous neuroendocrine carcinoma (aka, Merkel-cell carcinoma), small-cell melanoma, and mesenchymal chondrosarcoma. Their clinical presentations often overlap, thus making a definitive diagnosis problematic in some cases. Yet, a clear understanding of their clinicopathologic features usually allows for a confident diagnosis, especially if immunohistochemistry is used. The following is a review of the immunohistochemistry of this small round-cell tumor group.
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PMID:Immunohistochemistry of small round-cell tumors. 1096 7

As an anatomical interface between various tissues, the skull base harbors an exceptionally broad variety of neoplasms, some of which pose a major challenge for surgical pathology. The characterization of distinct immunohistochemical expression profiles and the identification of molecular genetic alterations associated with different tumor entities have significantly advanced this field. The new World Health Organization (WHO) classification of tumors of the nervous system lists 15 histopathological variants of meningioma. Of clinical importance are those entities that carry an increased risk of recurrence and a poor prognosis, i.e., the atypical meningioma (WHO grade II), clear-cell meningioma (WHO grade II), chordoid meningioma (WHO grade II), rhabdoid meningioma (WHO grade III), papillary meningioma (WHO grade III), and anaplastic meningioma (WHO grade III). Diagnostic criteria for atypical and anaplastic meningioma variants have now been stringently defined. The differential diagnosis of meningiomas includes hemangiopericytoma, hemangioblastoma, solitary fibrous tumor, sarcomas, and chordoid neoplasms. Recent data highlight the importance of distinguishing chordoma and chondrosarcoma of the skull base since chondrosarcomas show a significantly better clinical outcome. Among the less common, aggressive tumor entities in this anatomical region, infiltrating pituitary adenoma/pituitary carcinoma, superficial malignant gliomas, rhabdomyosarcoma, olfactory neuroblastoma, various sarcomas, and malignant lymphoma must be considered. Profiles of molecular genetic alterations have been established for several of these neoplasms and may facilitate the differential diagnosis. This review summarizes recent developments in the histopathological characterization, classification, and molecular pathology of neoplasms arising at the skull base.
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PMID:New developments in the pathology of skull base tumors. 1135 65


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