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Clinics in Geriatric Medicine Feb 2024Paraneoplastic syndromes include a variety of cutaneous presentations that have an associated internal malignancy. Some syndromes have a strong correlation to specific... (Review)
Review
Paraneoplastic syndromes include a variety of cutaneous presentations that have an associated internal malignancy. Some syndromes have a strong correlation to specific internal malignancies, whereas others are associated with a multitude of tumors. There are many cutaneous manifestations that suggest hematologic disorders, which will be reviewed in detail. Cutaneous metastases are commonly from breast and lung cancers and can present as nodules, vascular lesions, eczematous dermatitis, or inflammatory lesions. The most common histologic presentation of cutaneous metastasis is that of a dermal-based or subcutaneous-based nodule with sparing of the epidermis. Determination of origin of tumor requires immunohistochemistry and clinical correlation.
Topics: Humans; Skin Diseases; Skin Neoplasms; Paraneoplastic Syndromes; Lung Neoplasms
PubMed: 38000859
DOI: 10.1016/j.cger.2023.09.005 -
Journal of the Neurological Sciences Nov 2023Paraneoplastic neurologic syndromes (PNS) and autoimmune encephalitis (AIE) are immune-mediated disorders. PNS is linked to cancer, while AIE may not Their clinical... (Review)
Review
INTRODUCTION
Paraneoplastic neurologic syndromes (PNS) and autoimmune encephalitis (AIE) are immune-mediated disorders. PNS is linked to cancer, while AIE may not Their clinical manifestations and imaging patterns need further elucidation.
OBJECTIVE/AIMS
To investigate the clinical profiles, antibody associations, neuroimaging patterns, treatments, and outcomes of PNS and AIE.
METHODS
A systematic review of 379 articles published between 2014 and 2023 was conducted. Of the 55 studies screened, 333 patients were diagnosed with either PNS or AIE and tested positive for novel antibodies. Data on demographics, symptoms, imaging, antibodies, cancer associations, treatment, and outcomes were extracted.
RESULTS
The study included 333 patients (mean age 54 years, 67% males) with PNS and AIE positive for various novel antibodies. 84% had central nervous system issues like cognitive impairment (53%), rhombencephalitis (17%), and cerebellar disorders (24%). Neuroimaging revealed distinct patterns with high-risk antibodies associated with brainstem lesions in 98%, cerebellar in 91%, hippocampal in 98%, basal ganglia in 75%, and spinal cord in 91%, while low/intermediate-risk antibodies were associated with medial temporal lobe lesions in 71% and other cortical/subcortical lesions in 55%. High-risk antibodies were associated with younger males, deep brain lesions, and increased mortality of 61%, while low/intermediate-risk antibodies were associated with females, cortical/subcortical lesions, and better outcomes with 39% mortality. Associated cancers included seminomas (23%), lung (19%), ovarian (2%), and breast (2%). Treatments included IVIG, chemotherapy, and plasmapheresis. Overall mortality was 25% in this cohort.
CONCLUSION
PNS and AIE have distinct clinical and radiological patterns based on antibody profiles. High-risk antibodies are associated with increased mortality while low/intermediate-risk antibodies are associated with improved outcomes. Appropriate imaging and antibody testing are critical for accurate diagnosis.
Topics: Male; Female; Humans; Middle Aged; Nervous System Diseases; Paraneoplastic Syndromes, Nervous System; Autoantibodies; Neoplasms; Neuroimaging
PubMed: 37856996
DOI: 10.1016/j.jns.2023.120830 -
Ugeskrift For Laeger Aug 2023Guillian-Barré syndrome (GBS) is an immune mediated disease which is most commonly caused by infections. Symptoms are rapidly progressive and may include servere...
Guillian-Barré syndrome (GBS) is an immune mediated disease which is most commonly caused by infections. Symptoms are rapidly progressive and may include servere weakness of the extremities, bulbar weakness, autonomic dysfunction and respiratory insufficiens. In rare cases paraneoplastic syndrome may mimic GBS, which is important to know as treatment will fail unless the underlying malignancy is treated. This is a case report of paraneoplastic non-small cell lungcancer mimicking GBS with effect of the checkpoint inhibitor pembrolizumab.
Topics: Humans; Paraneoplastic Syndromes; Autonomic Nervous System Diseases; Extremities
PubMed: 37615229
DOI: No ID Found -
Seminars in Neurology Oct 2023Myasthenia gravis (MG) is an acquired autoimmune neuromuscular junction transmission disorder that clinically presents as fluctuating or persistent weakness in various... (Review)
Review
Myasthenia gravis (MG) is an acquired autoimmune neuromuscular junction transmission disorder that clinically presents as fluctuating or persistent weakness in various skeletal muscle groups. Neuroprognostication in MG begins with some basic observations on the natural history of the disease and known treatment outcomes. Our objective is to provide a framework that can assist a clinician who encounters the MG patient for the first time and attempts to prognosticate probable outcomes in individual patients. In this review article, we explore clinical type, age of onset, antibody status, severity of disease, thymus pathology, autoimmune, and other comorbidities as prognostic factors in MG.
Topics: Humans; Myasthenia Gravis; Treatment Outcome
PubMed: 37751854
DOI: 10.1055/s-0043-1775791 -
Handbook of Clinical Neurology 2024Although they are relatively rare, the diagnosis of paraneoplastic neurologic syndromes (PNS) can be aided by the identification of neural autoantibodies in patients'... (Review)
Review
Although they are relatively rare, the diagnosis of paraneoplastic neurologic syndromes (PNS) can be aided by the identification of neural autoantibodies in patients' serum and cerebrospinal fluid (CSF). They often clinically manifest as characteristic syndromes, including limbic encephalitis, opsoclonus-myoclonus syndrome, paraneoplastic cerebellar degeneration, and paraneoplastic encephalomyelitis. The antibodies are directed either toward intracellular targets, or epitopes on the cell surface. As compared to cell surface antibodies, intracellular paraneoplastic autoantibodies are more classically associated with cancer, most often lung, breast, thymoma, gynecologic, testicular, and/or neuroendocrine cancers. The malignancies themselves tend to be small and regionally contained, attesting to the strength of the immune system in cancer immunosurveillance. Typically, the intracellular antibodies are not directly pathogenic and tend to be associated with PNS that are poorly responsive to treatment. With some notable exceptions, including patients with PNS associated with testicular cancer, patients with intracellular antibodies are typically older individuals, in their 7th decade of life and beyond. Many of them are current or former smokers. Treatment strategies include tumor removal as well as immunotherapy to treat the concomitant PNS. Newer technologies and the ever-broadening use of cancer immunotherapies are contributing to the continued identification of novel intracellularly targeted autoantibodies.
Topics: Male; Humans; Female; Testicular Neoplasms; Paraneoplastic Syndromes, Nervous System; Autoantibodies; Limbic Encephalitis; Immunotherapy
PubMed: 38494288
DOI: 10.1016/B978-0-12-823912-4.00021-9 -
Handbook of Clinical Neurology 2024A number of the well-recognized autoimmune and paraneoplastic neurologic syndromes commonly involve the autonomic nervous system. In some cases, the autonomic nerves or... (Review)
Review
A number of the well-recognized autoimmune and paraneoplastic neurologic syndromes commonly involve the autonomic nervous system. In some cases, the autonomic nerves or ganglia are primary targets of neurologic autoimmunity, as in immune-mediated autonomic ganglionopathies. In other disorders such as encephalitis, autonomic centers in the brain may be affected. The presence of autonomic dysfunction (especially gastrointestinal dysmotility) is sometimes overlooked even though this may contribute significantly to the symptom burden in these paraneoplastic disorders. Additionally, recognition of autonomic features as part of the clinical syndrome can help point the diagnostic evaluation toward autoimmune and paraneoplastic etiologies. As with other paraneoplastic disorders, the clinical syndrome and the presence and type of neurologic autoantibodies help to secure the diagnosis and direct the most appropriate investigation for malignancy. Optimal management for these conditions typically includes aggressive treatment of the neoplasm, immunomodulatory therapy, and symptomatic treatments for orthostatic hypotension and gastrointestinal dysmotility.
Topics: Humans; Autoantibodies; Nervous System Diseases; Autonomic Nervous System Diseases; Paraneoplastic Syndromes, Nervous System; Neoplasms; Autonomic Nervous System
PubMed: 38494282
DOI: 10.1016/B978-0-12-823912-4.00005-0 -
Handbook of Clinical Neurology 2024Paraneoplastic neurologic syndromes (PNS), initially depicted as seemingly cryptic remote manifestations of malignancy, were first described clinically in the early 20th... (Review)
Review
Paraneoplastic neurologic syndromes (PNS), initially depicted as seemingly cryptic remote manifestations of malignancy, were first described clinically in the early 20th century, with pathophysiologic correlates becoming better elucidated in the latter half of the century. There remain many questions not only about the pathophysiology but also regarding the epidemiology of these conditions. The continuous discovery of novel autoantigens and related neurologic disease has broadened the association in classical PNS to include conditions such as paraneoplastic cerebellar degeneration. It has also brought into focus several other neurologic syndromes with a putative neoplastic association. These conditions are overall rare, making it difficult to capture large numbers of patients to study, and raising the question of whether incidence is increasing over time or improved identification is driving the increased numbers of cases. With the rise and increasing use of immunotherapy for cancer treatment, the incidence of these conditions is additionally expected to rise and may present with various clinical symptoms. As we enter an era of clinical trial intervention in these conditions, much work is needed to capture more granular data on population groups defined by socioeconomic characteristics such as age, ethnicity, economic resources, and gender to optimize care and clinical trial planning.
Topics: Humans; Paraneoplastic Syndromes, Nervous System; Neoplasms; Nervous System Diseases; Immunotherapy
PubMed: 38494297
DOI: 10.1016/B978-0-12-823912-4.00011-6 -
Archives of Medical Research Dec 2023Ectopic hormone production may be present in neuroendocrine and non-endocrine neoplasms. Ectopic sources of growth hormone, adrenocorticotropin (ACTH), or their... (Review)
Review
Ectopic hormone production may be present in neuroendocrine and non-endocrine neoplasms. Ectopic sources of growth hormone, adrenocorticotropin (ACTH), or their releasing factors are uncommon but clinically relevant. Ectopic ACTH tumors have been studied more than the rest, but there are still no comprehensive multidisciplinary guidelines that include all the pitfalls in the diagnosis and management of ectopic hormonal syndromes and the neoplasms associated with ectopic Cushing or acromegaly. The frequency of neuroendocrine neoplasms and other neoplasms with neuroendocrine differentiation has been increasing in recent decades. The review of the available data on these tumors, their classification, and improvements in diagnostic and therapeutic procedures is important to understand the relevance of ectopic Cushing's syndrome and acromegaly in clinical practice.
Topics: Humans; Cushing Syndrome; ACTH Syndrome, Ectopic; Acromegaly; Adrenocorticotropic Hormone; Neuroendocrine Tumors
PubMed: 38007384
DOI: 10.1016/j.arcmed.2023.102898 -
Portuguese Journal of Cardiac Thoracic... Jul 2023
Topics: Humans; Thymoma; Thymus Neoplasms; Paraneoplastic Syndromes
PubMed: 37418760
DOI: 10.48729/pjctvs.375 -
The American Surgeon Sep 2023Neuroblastomas are the most common extracranial solid malignancy in children with variable manifestations and complications depending on the presence of paraneoplastic...
BACKGROUND
Neuroblastomas are the most common extracranial solid malignancy in children with variable manifestations and complications depending on the presence of paraneoplastic syndromes.
MATERIALS AND METHODS
We performed a single institution retrospective cohort study of all patients less than 18 years old diagnosed with neuroblastoma or ganglioneuroblastoma between January 2002 and July 2022. Patients were identified through the pathology and cancer registry and cross-referenced with pediatric records. Patient demographics, clinical presentation, treatment, and outcomes were collected. A univariate descriptive analysis of the collected data was conducted.
RESULTS
In our study period, 130 children were diagnosed with neuroblastoma, and 15 were diagnosed with ganglioneuroblastoma. There were 12 children with a paraneoplastic syndrome identified, 8 with NBL and 4 with ganglioneuroblastoma (GNBL). The average age at diagnosis was 22 months. All but 1 underwent resection prior to treatment of paraneoplastic syndrome, and 4 children required neoadjuvant therapy. Neurological complications were the most common with 10 children (83%). The average time from symptom onset to diagnosis was 0.7 months. Eight children had complete resolution of their symptoms after treatment and resection, 2 children recently started treatment within a year, 1 had partial resolution, and 1 died during treatment. The presence of tumor-infiltrating lymphocytes occurred in 4 children with neurologic paraneoplastic syndromes. Six children had neuropil rich tumors.
CONCLUSION
The histological profile of paraneoplastic syndromes of neuroblastoma and ganglioneuroblastoma and their treatment across a single institution can be highly variable. The presence of tumor-infiltrating lymphocytes and neuropil may have an impact on paraneoplastic pathology.
Topics: Humans; Child; Infant; Adolescent; Ganglioneuroblastoma; Retrospective Studies; Neuroblastoma; Paraneoplastic Syndromes; Nervous System Diseases
PubMed: 37150742
DOI: 10.1177/00031348231175112