Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 58-year-old male presented with reflex myoclonus and stiffness of the left facial, tongue, shoulder, and lower limbs muscles. Muscle stiffness and gait progressively worsened, leading to frequent falls. Acoustic and cutaneous stimuli of head precipitated reflex myoclonus like head retraction. Cutaneous of lower extremities precipitated jerky myoclonus of bilateral lower extremities. CSF analysis were unremarkable. No anti GAD antibody or anti amphiphysin antibody was detected in the serum and CSF. On surface EMG the spasms initiated with 4-5 short burst discharges at intervals between 59 and 84 ms, followed by a tonic decrescendo activity up to 3 s. After diazepam treatment, stiffness and reflex myoclonus of lower extremities were disappeared and head retraction like reflex myoclonus was improved but remained. CT of the chest revealed a mediastinal tumor. Biopsy of the tumor revealed undifferential carcinoma. The patient further improved after the resection of the tumor. These findings suggest that this stiff-man syndrome may occur as an autoimmune paraneoplastic syndrome of CNS.
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PMID:[A case of stiff-man syndrome with head retraction like reflex myoclonus and jerky myoclonus of bilateral lower extremities which responded well to removal of mediastinal carcinoma]. 1065 63

Several neurologic paraneoplastic disorders are believed to be caused by an autoimmune reaction against an antigen or antigens coexpressed by tumor cells and neurons. Of the paraneoplastic syndromes, the Lambert-Eaton myasthenic syndrome (LEMS)--in which autoantibodies downregulate voltage-gated calcium channels at the presynaptic nerve terminal--is associated with the strongest evidence of an autoimmune cause. For the other syndromes, including cerebellar degeneration, multifocal encephalomyelitis, sensory neuronopathy, limbic encephalitis, opsoclonus-myoclonus, and retinal degeneration, an autoimmune cause is indicated by the presence of specific anti-neuronal antibodies. These antibodies serve as a useful diagnostic tool, but their actual role in causing neuronal injury and clinical disease remains unclear. A small percentage of patients with paraneoplastic disorders shows major neurologic improvement after successful treatment of the associated tumor. Of patients who require further therapy for the neurologic disorder, those with LEMS have the best outcome. The response to immunosuppression among patients with paraneoplastic central nervous system (CNS) dysfunction is much less favorable. Although exceptions clearly exist, most patients with CNS paraneoplastic disorders do not improve despite tumor treatment and immunosuppressive therapy. It is likely that many patients already have irreversible neuronal injury at the time of diagnosis. The decision to attempt immunosuppressive treatment must be made on an individual basis.
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PMID:Paraneoplastic Diseases of the Nervous System. 1109 26

Paraneoplastic syndromes are disorders associated with cancer but without a direct effect of the tumor mass or its metastases on the nervous system. Small cell carcinoma of lung associated with paraneoplastic sensory neuronopathy and/or paraneoplastic encephalomyelitis with the presence of anti-Hu antibodies has been termed "anti-Hu syndrome." Anti-Hu associated PSN-PEM is an immune disorder in which both cell-mediated and humoral mechanisms are involved. Patients are considered affected by Anti-Hu associated PSN-PEM when they develop clinical signs and symptoms of CNS dysfunction and/or sensory neuropathy not caused by metastases or other disorders, and serum or cerebrospinal fluid is positive for Hu abs. SCLC is found in more than 90% of patients with cancer and positive Hu abs. Individual patients with Hu abs associated to SCLC may suffer PSN-PEM, limbic encephalitis, brainstem encephalopathy, opsoclonus-myoclonus, paraneoplastic cerebellar degeneration or myelopathy. Hu abs have a specificity of 99% and sensitivity of 82% in detecting paraneoplastic neurological syndromes. There are two types of treatment: the first is to treat the cancer, the second is to suppress the immune reaction with the use of corticosteroids, cyclophosphamide, azathioprine, plasma exchange, intravenous immunoglobulin and immunoadsorption; however, treatment of paraneoplastic syndromes is generally unsatisfactory.
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PMID:Paraneoplastic syndromes associated with anti-Hu antibodies. 1134 32

The authors describe the case of a 22-year-old woman with involuntary contractions of the sternocleidomastoid and trapezius muscles that resulted in turning movements of the head. The jerks displayed the clinical and neurophysiological characteristics of segmental myoclonus (SM) restricted to muscles supplied bilaterally by the first four cervical segments. Magnetic resonance imaging disclosed a tumor in the midline above the cisterna magna that was later histologically proven to be a choroid plexus papilloma. The patient's involuntary movements did not extend to other muscle groups or, in particular, to the palate, as one might have expected in the case of brainstem lesions. Myoclonus was the sole clinical manifestation of the tumor in this patient; other signs and symptoms invariably reported in other cases of posterior fossa papilloma, such as increased intracranial pressure or cranial nerve palsies, were absent. Release from suprasegmental control is suggested as a possible pathophysiological mechanism in this case of SM.
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PMID:Segmental myoclonus as the sole manifestation of a choroid plexus papilloma in the posterior fossa. Case report. 1178 Sep 7

The review presents an overview on the pathogenesis of paraneoplastic neurological disorders (PNDs) and the current therapeutic immunosuppressive or immunomodulatory strategies used in these patients. PNDs are disturbances in the functioning of the nervous system in cancer patients, where the disturbances are not due to a local effect of the tumour or its metastases. Most of these clinically, well-defined syndromes in adults are associated with lung cancer (especially small cell lung cancer), lymphomas and gynaecological tumours. Since autoantibodies directed against proteins expressed in neurons and tumour cells have been found, PNDs are suspected to be autoimmune. In neuromuscular PND, immunosuppressive therapies, plasmapheresis and intravenous immunoglobulins are effective treatments. In contrast, central nervous system PNDs seen in adults are by far the most problematic group to treat. With exception of the stiff-man syndrome, immunosuppression appears to have little effect on these neurological disorders. Tumour therapy stabilises PNDs but does not cause improvement. Plasmapheresis reduces the autoantibody titre in the sera of these patients but, like tumour therapy, does not lead to a clinical improvement. In children with paraneoplastic opsoclonus-myoclonus syndrome, steroids and intravenous immunoglobulins may lead to a complete or partial remission of PNDs.
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PMID:Immunotherapeutic approaches to paraneoplastic neurological disorders. 1195 79

Different types of spontaneous activity may be found during electromyographic examinations in patients with spinal cord diseases. Syringomyelia and intramedullary tumor patients may show continuous motor unit activity, synchronous motor unit potentials, myokymic discharges, segmental and propriospinal myoclonus, and respiratory synkinesis. These types of discharges are less commonly encountered in other types of spinal cord lesions. It is suggested that the derangement of inhibitory mechanisms by a central spinal cord lesion may favor the appearance of abnormal spontaneous activity. An increase in the excitability of spinal motor neurons is probably the basic underlying mechanism.
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PMID:Spontaneous electromyographic activity in spinal cord lesions. 1211 90

Various paraneoplastic autoantibodies have been linked to discrete neurologic syndromes and tumors in adults, but little is known about their incidence in children. We report a cross-sectional study of known paraneoplastic antibodies in 59 children with opsoclonus-myoclonus-ataxia, 86% of whom were moderately or severely symptomatic, and 68% of whom had relapsed at the time of testing. This total number of patients includes 18 children with low-stage neuroblastoma (tested after tumor resection), six of whom had never been treated with immunosuppressants. All were seronegative for anti-Hu, anti-Ri, and anti-Yo, the three paraneoplastic antibodies most associated with opsoclonus-myoclonus or ataxia in adults. These data contrast with reports of anti-Hu-positive sera in children with high-stage tumors and suggest that anti-Hu, anti-Ri, and anti-Yo do not explain relapses in pediatric opsoclonus-myoclonus-ataxia. They underscore the need to search for unique autoantibodies, as well as cellular mechanisms of pediatric paraneoplastic disease.
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PMID:Screening for autoantibodies in children with opsoclonus-myoclonus-ataxia. 1250 7

The aim of this study was to investigate the histological, immunohistochemical and molecular features of a series of children with neuroblastic tumors (NTs) and opsoclonus-myoclonus syndrome (OMS). Of 1187 children (age 0-15 years) with previously untreated NTs registered between 1979 and 1995, 15 (1.3%) had OMS at presentation. The majority of patients showed favorable biological characteristics, such as lack of amplification of the neuroblastoma-associated avian myelocytomatosis homolog MYCN oncogene and aneuploid nuclear DNA content. Tumor histology was reviewed according to the International Neuroblastoma Pathology Classification. Histology of the 15 cases of NTs with OMS was ganglioneuroblastoma, intermixed, in 10 patients; ganglioneuroma, maturing, in 1; and neuroblastoma in 4. Of 15 tumors, 12 (10 ganglioneuroblastomas, 2 neuroblastomas) showed abundant interstitial or perivascular lymphoid infiltrates, the latter often organized in secondary lymphoid follicles. The three remaining cases had only minimal infiltrates. A review of 91 cases of age- and stage-matched neuroblastic tumors not associated with OMS tested as controls showed that the degree of lymphoid infiltration was significantly lower than that detected in OMS-related tumors. Furthermore, lymphoid follicles were always present in the latter tumors, whereas they were detected only in a few ganglioneuroma, intermixed tumors from the control group. In conclusion, ganglioneuroblastoma, intermixed subtype, lack of MYCN amplification, aneuploid DNA content and presence of lymphoid infiltrates may contribute to favorable prognosis in NTs associated with OMS.
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PMID:Neuroblastic tumors associated with opsoclonus-myoclonus syndrome: histological, immunohistochemical and molecular features of 15 Italian cases. 1270 98

We identified the IgG autoantibody ANNA-2 ("anti-Ri") in 34 patients in a 12-year period by immunofluorescence screening of sera from approximately 75000 patients with subacute neurological disorders that were suspected to be paraneoplastic. Detailed clinical information was available for 28 patients (10 men, 18 women). Cancer was diagnosed in 24 patients (86%); 21 had histologically proven carcinoma (10 lung, 9 breast, 1 cervical, 1 bladder), and 3 had an intrathoracic imaging abnormality. Cancer anteceded neurological symptoms in 4 of 28 patients. Cancer detection frequency increased with continued surveillance. Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, encephalopathy, Lambert-Eaton syndrome, and seizures. Four patients had laryngospasm and four had jaw opening dystonia (two with neck dystonia). Nine (32%) were wheelchair-bound 1 month after neurological symptom onset. Most improved neurologically after immunomodulatory or tumor-directed therapy. Accompanying autoantibodies, found in 73% of sera, included ANNA-1, ANNA-3, CRMP-5-IgG, P/Q-type and N-type Ca(2+) channel antibodies, and muscle-type acetylcholine receptor antibody. Some neurological accompaniments of ANNA-2 may reflect potentially pathogenic humoral or cell-mediated responses to coimmunogenic tumor antigens, for example, Lambert-Eaton syndrome (P/Q-type Ca(2+) channel antibody) and peripheral neuropathy (ANNA-1 effector T cells).
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PMID:Anti-neuronal nuclear autoantibody type 2: paraneoplastic accompaniments. 1273 Sep 91

We conducted the current review of the paraneoplastic neurologic syndromes (PNSs) associated with gynecologic and breast carcinomas to describe their clinical and immunologic characteristics and their relative frequency. We retrospectively reviewed 92 patients whose serum was sent to our laboratories to detect onconeural antibodies and who were diagnosed as having PNSs associated with breast or gynecologic tumors. PNSs were defined as "definitive" and "possible" (atypical PNS, no onconeural antibodies, and no improvement after tumor treatment). Forty-nine patients had breast and 43 had gynecologic cancer. Sixty-three patients had onconeural antibodies (50 Yo-ab, 5 Hu-ab, 5 Ri-ab, and 3 amphiphysin-ab). Cerebellar ataxia represented 57 (62%) of all PNSs and was associated with anti-Yo in 88%. All Yo-abnegative patients had breast cancer; 4 of them had a mild cerebellar syndrome that improved after tumor treatment. Sensorypredominant neuropathies were present in 17 (18%) patients. Seven of them had Hu-ab (5) or amphiphysin-ab (2). Other PNSs were opsoclonus-myoclonus syndrome (4 cases, Ri-ab in 2), sensorimotor neuropathy (4 cases), paraneoplastic encephalomyelitis (4 cases, Ri-ab in 3), paraneoplastic retinopathy (2 cases), amyotrophic lateral sclerosis (2 cases), stiff-person syndrome (1 with amphiphysin-ab), and limbic encephalitis (1 case). All patients with gynecologic cancer presented definitive PNS, and onconeural antibodies were diagnosed in 93% of them. In contrast, 20% of PNSs associated with breast cancer were defined as possible and the incidence of onconeural antibodies was 51%, excluding the 2 patients with paraneoplastic retinopathy in whom antiretinal antibodies were not analyzed. In patients with possible PNS, a coincidental association between the tumor and the neurologic disorder cannot be excluded.
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PMID:Spectrum of paraneoplastic neurologic disorders in women with breast and gynecologic cancer. 1279 7


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