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Endocrine Journal Jun 2023Paraneoplastic syndromes are defined by symptoms or signs resulting from damage to organs or tissues that are remote from the site of malignant neoplasms or its...
Paraneoplastic syndromes are defined by symptoms or signs resulting from damage to organs or tissues that are remote from the site of malignant neoplasms or its metastasis. They are due to tumor secretion of functional hormones or peptides or are related to immune cross-reactivity with the host tissue. In particular, paraneoplastic endocrine syndromes are mainly caused by ectopic hormone production by the tumor such as PTHrP in humoral hypercalcemia in malignancy and ACTH in ectopic ACTH syndrome. Recently, it has been reported that a specific form of hypophysitis is caused as an immune-mediated paraneoplastic syndrome; paraneoplastic autoimmune hypophysitis, in which an ectopic pituitary antigen expression in the tumor evoked autoimmunity against pituitary-specific antigens, resulting in hypophysitis and exhibiting the injury of specific anterior pituitary cells by cytotoxic T cells. This novel clinical entity, paraneoplastic autoimmune hypophysitis consists of several conditions such as anti-PIT-1 hypophysitis and a part of isolated ACTH deficiency and immune checkpoint inhibitor-related hypophysitis with common mechanisms. These conditions can explain at least in part, the underlying mechanisms of acquired specific pituitary hormone deficiencies. In addition, it is important to apply a comprehensive discipline of onco-immuno-endocrinology to understand the pathophysiology and this approach; the expansion and application of immune-mediated paraneoplastic syndrome to endocrine diseases may give a new clue to understand pathophysiology of the autoimmunity against endocrine organs.
Topics: Humans; Autoimmune Hypophysitis; Paraneoplastic Endocrine Syndromes; Autoantibodies; Hypophysitis; Paraneoplastic Syndromes; Neoplasms; Adrenocorticotropic Hormone
PubMed: 37045779
DOI: 10.1507/endocrj.EJ23-0050 -
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 -
Postepy Higieny I Medycyny... Jul 2014Paraneoplastic syndromes, which are discussed in this paper, are a heterogeneous group of disorders associated with cancer, but not directly caused by the physical... (Review)
Review
Paraneoplastic syndromes, which are discussed in this paper, are a heterogeneous group of disorders associated with cancer, but not directly caused by the physical effects of the primary tumor or its metastases. May precede the appearance of the malignant process, occur simultaneously or disclose in the course of cancer. Paraneoplastic syndromes may be caused directly by toxins produced by tumor cells, occur in the course of hypersensitivity reactions, or be the result of release of intracellular antigens. Due to the often similar systemic symptoms it is very important to evaluate the association of rheumatic diseases and cancer. Most paraneoplastic rheumatologic syndroms are difficult distinguishable from idiopathic rheumatologic disorders. The most common paraneoplastic syndromes include rheumatoid arthritis (RA)-like syndrome arthritis, inflammatory myopathies, hypertrophic osteoarthropathy, vasculitis and Raynaud's phenomenon.
Topics: Arthritis, Rheumatoid; Diagnosis, Differential; Humans; Myositis; Osteoarthropathy, Primary Hypertrophic; Paraneoplastic Syndromes; Raynaud Disease; Vasculitis
PubMed: 25055033
DOI: 10.5604/17322693.1111924 -
Journal of Cancer Research and Clinical... Jan 2015Paraneoplastic neurological syndromes (PNS) are neurologic deficits triggered by an underlying remote tumor. PNS can antedate clinical manifestation of ovarian... (Review)
Review
INTRODUCTION
Paraneoplastic neurological syndromes (PNS) are neurologic deficits triggered by an underlying remote tumor. PNS can antedate clinical manifestation of ovarian malignancy and enable its diagnosis at an early stage. Interestingly, neoplasms associated with PNS are less advanced and metastasize less commonly than those without PNS. This suggests that PNS may be associated with a naturally occurring antitumor response.
METHODS
We review the literature on the diagnosis, pathogenesis and management of PNS associated with ovarian tumors: paraneoplastic cerebellar degeneration (PCD) and anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. An approach to the diagnostic workup of underlying tumors is discussed.
RESULTS
PCD can precede the manifestation of ovarian carcinoma. Anti-NMDAR encephalitis in young women appears often as a result of ovarian teratoma. Since ovarian tumors and nervous tissue share common antigens (e.g., cdr2, NMDAR), autoimmune etiology is a probable mechanism of these neurologic disorders. The concept of cross-presentation, however, seems insufficient to explain entirely the emergence of PNS. Early resection of ovarian tumors is a significant part of PNS management and improves the outcome.
CONCLUSIONS
The diagnosis of PNS potentially associated with ovarian tumor indicates a need for a thorough diagnostic procedure in search of the neoplasm. In some patients, explorative laparoscopy/laparotomy can be considered.
Topics: Female; Humans; Incidence; Ovarian Neoplasms; Paraneoplastic Syndromes; Poland; Prognosis
PubMed: 24965744
DOI: 10.1007/s00432-014-1745-9 -
Cancer Control : Journal of the Moffitt... 2022Dozens of paraneoplastic syndromes affect the visual system ranging from conjunctival pemphigoid to encephalopathy of the occipital cortex. The most profiled ocular... (Review)
Review
Dozens of paraneoplastic syndromes affect the visual system ranging from conjunctival pemphigoid to encephalopathy of the occipital cortex. The most profiled ocular syndromes are bilateral diffuse uveal melanocytic proliferation (BDUMP) and the autoimmune retinopathies. To review the critical features of these 2 entities then concentrate on advancements in treatment made within the last 10 years. Literature review with structured data abstraction. Major insights into pathogenesis have been wanting. Plasmapheresis appears to improve vision in a substantial proportion of patients with BDUMP. The number of clinical variables that influence visual outcome in paraneoplastic retinopathies combined with the variety of local and systemic treatment options makes interpretation of clinical effectiveness difficult. The rarity of these disorders makes randomized clinical trials unlikely. It may be time for a clinical professional organization to use a modified Delphi method to establish a consensus algorithm for the diagnosis and management of retinal paraneoplastic syndromes to augment clinical communications and clinical trials.
Topics: Humans; Paraneoplastic Syndromes, Ocular; Autoimmune Diseases; Retinal Diseases; Cell Proliferation
PubMed: 36473045
DOI: 10.1177/10732748221144458 -
Advances in Respiratory Medicine 2021Lung malignancy is known to be one of the leading causes of cancer-related mortality. Endocrine paraneoplastic syndromes in lung cancer are common. These are due to... (Review)
Review
Lung malignancy is known to be one of the leading causes of cancer-related mortality. Endocrine paraneoplastic syndromes in lung cancer are common. These are due to secretion of various substances and not because of direct tumour invasion or me-tastasis. These syndromes have also been associated with lung cancer prognosis. This review describes the many endocrine paraneoplastic syndromes seen in lung cancer and narrates their incidence, biology, clinical features, diagnosis, and management.
Topics: Carcinoma, Small Cell; Disease Progression; Humans; Lung Neoplasms; Paraneoplastic Endocrine Syndromes
PubMed: 34494243
DOI: 10.5603/ARM.a2021.0075 -
Neurology(R) Neuroimmunology &... Mar 2022Population-based epidemiologic data for paraneoplastic neurologic syndromes (PNSs) in the United States are lacking. Our objective was to evaluate the incidence,...
OBJECTIVES
Population-based epidemiologic data for paraneoplastic neurologic syndromes (PNSs) in the United States are lacking. Our objective was to evaluate the incidence, prevalence, and associated morbidity of PNS.
METHODS
We performed a population-based epidemiology study in Olmsted County, Minnesota, with patients identified between January 1, 1987, and December 31, 2018, using the medical records linkage system of the Rochester Epidemiology Project (REP) who met the definite/probable 2021 PNS criteria and 2004 PNS criteria. Patients with dermatomyositis and myasthenia gravis with underlying tumors were included. Age- and sex-specific population counts were obtained from REP resources for January 1, 2014 (prevalence denominator) and annually for 1987-2018 (incidence denominator). Morbidity was estimated using disability-adjusted life years (DALYs; years lived with disability [YLD] plus years of life lost [YLL]).
RESULTS
There were 28 patients with PNS identified (50% female) residing in Olmsted County, Minnesota, with median age at diagnosis of 54.5 (IQR 46.5-69.0) years. All patients had a cancer diagnosis, and 18 (64%) patients were neural autoantibody positive including antineuronal nuclear autoantibody type 1 (ANNA-1/anti-Hu; n = 1), ANNA-2/anti-Ri (n = 1), muscle-type acetylcholine receptor (AChR; n = 6), Purkinje cell cytoplasmic antibody type 1 (PCA-1/anti-Yo; n = 1), kelch-like protein 11 (KLH11; n = 3), collapsin response mediator protein 5 (CRMP-5/anti-CV2; n = 2), α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor (n = 1), neurofilament light chain (n = 1), leucine zipper 4 (LUZP4; n = 1), and unclassified neural antibodies (n = 1). PNS incidence was 0.6/100,000 person-years and increased over time from 0.4/100,000 person-years (1987-2002) to 0.8/100,000 person-years (2003-2018) ( = 0.06). Prevalence was 5.4/100,000 people. The median follow-up period after PNS diagnosis was 3.1 years (IQR, 1.1-9.9 years). Total disability-adjusted life years (DALYs) for 28 patients with PNS were 472.7 years, based on total years of life lost (YLL) for patients dying between 1987 and 2018 (n = 15) of 445.3 years plus years lived with disability (YLD) 27.4 years.
DISCUSSION
PNSs are rare neurologic disorders but are associated with severe morbidity and mortality. The estimated number of prevalent PNS cases in the United States is 17,099, and predicted DALY for all US PNS cases is 292,393 years. Their apparent increasing rate of detection is attributable to increasing physician awareness and availability of serologic testing.
Topics: Adolescent; Adult; Disability-Adjusted Life Years; Female; Humans; Male; Middle Aged; Minnesota; Neoplasms; Paraneoplastic Syndromes, Nervous System; Prevalence; Young Adult
PubMed: 34937736
DOI: 10.1212/NXI.0000000000001124 -
Inflammation Research : Official... Nov 2023Malignant neoplasms are a well-recognized global public health concern, with significant impacts on human health and quality of life. The interplay between tumors and... (Review)
Review
BACKGROUND
Malignant neoplasms are a well-recognized global public health concern, with significant impacts on human health and quality of life. The interplay between tumors and autoimmune rheumatic diseases is complex, and the resulting tumor-associated rheumatic diseases represent a rare and intricate group of conditions that occur in the context of malignant tumors. In addition, various rheumatic diseases can arise as a consequence of oncology treatment. These diseases present with intricate clinical manifestations and pathological features, often rendering them challenging to diagnose and impacting patients' quality of life. Despite this, they have yet to be fully recognized.
METHODS
This article presents a literature review of published original articles and review articles concerning paraneoplastic rheumatic syndromes and rheumatic diseases associated with cancer treatment. We conducted a comprehensive literature search in PubMed, Web of Science and Google Scholar databases, excluding duplicated and irrelevant studies. In cases of duplicated research, we selected articles with higher impact factors for the review.
RESULTS
This review focuses on the clinical features, diagnosis, and treatment of paraneoplastic rheumatic diseases, as well as the pathogenesis of these diseases. Additionally, we summarize the autoimmune rheumatic diseases associated with cancer treatment. Ultimately, the goal of this review is to enhance recognition and improve the management of autoimmune rheumatic diseases related to tumors.
Topics: Humans; Quality of Life; Neoplasms; Paraneoplastic Syndromes; Rheumatic Diseases; Autoimmune Diseases
PubMed: 37768354
DOI: 10.1007/s00011-023-01780-6 -
CMAJ : Canadian Medical Association... Jan 2017
Topics: Carcinoma, Squamous Cell; Dermatomyositis; Female; Humans; Middle Aged; Paraneoplastic Syndromes; Uterine Cervical Neoplasms
PubMed: 27729377
DOI: 10.1503/cmaj.151448 -
Frontiers in Immunology 2019Paraneoplastic pemphigus (PNP) is a rare but life-threatening mucocutaneous disease mediated by paraneoplastic autoimmunity. Various neoplasms are associated with PNP.... (Review)
Review
Paraneoplastic pemphigus (PNP) is a rare but life-threatening mucocutaneous disease mediated by paraneoplastic autoimmunity. Various neoplasms are associated with PNP. Intractable stomatitis and polymorphous cutaneous eruptions, including blisters and lichenoid dermatitis, are characteristic clinical features caused by humoral and cell-mediated autoimmune reactions. Autoreactive T cells and IgG autoantibodies against heterogeneous antigens, including plakin family proteins and desmosomal cadherins, contribute to the pathogenesis of PNP. Several mechanisms of autoimmunity may be at play in this disease on the type of neoplasm present. Diagnosis can be made based on clinical and histopathological features, the presence of anti-plakin autoantibodies, and underlying neoplasms. Immunosuppressive agents and biologics including rituximab have been used for the treatment of PNP; however, the prognosis is poor due to underlying malignancies, severe infections during immunosuppressive treatment, and bronchiolitis obliterans mediated by autoimmunity. In this review, we overview the characteristics of PNP and focus on the immunopathology and the potential pathomechanisms of this disease.
Topics: Animals; Autoantibodies; Autoantigens; Autoimmunity; Biopsy; Disease Management; Disease Susceptibility; Humans; Mucous Membrane; Paraneoplastic Syndromes; Pemphigus; Prognosis; Skin; Symptom Assessment
PubMed: 31214197
DOI: 10.3389/fimmu.2019.01259