Inherited and acquired clinical phenotypes associated with neuroendocrine tumors
Inherited and acquired clinical phenotypes associated with neuroendocrine tumors
Nicholaides, Rory E.; de la Morena, M. Teresa
2017-12-01 00:00:00
Purpose of reviewOverview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states.Recent findingsMalignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel–Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states. Of all primary immune deficiency diseases, NETs appear to be unique to XHIGM patients. Outcomes for XHIGM patients with NETs is poor, and the mechanism behind this association remains unclear. In secondary immune deficiency states, NET occurrences were primarily in patients with HIV or AIDS, the autoimmune disease systemic lupus erythematosus and solid organ transplant recipients. Gastroenteropancreatic NETs were most frequent in XHIGM patients, whereas nongastroenteropancreatic–NETs, like Merkel cell carcinoma and small-cell lung carcinoma, affected HIV/AIDS patients. Possible mechanisms as to the nature of these associations are discussed, including chronic infections and inflammation, and CD40–CD40L interactions. Many questions remain, and further studies are needed to clarify the predisposition of patients with XHIGM to the development of NETs. Given that many of these patients present late in their disease state and have poor outcomes, it is imperative to keep a high index of suspicion at the advent of early signs and symptoms. Regular monitoring with laboratory or imaging studies, including tumor markers, may be warranted, for which further studies are needed.SummaryOf all primary immunodeficiency diseases, NETs appear to be unique to XHIGM, and the mechanism behind this association remains unclear. Outcome for XHIGM patients with NETs is poor, and it is imperative to keep a high index of suspicion at the advent of early signs and symptoms.
http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.pngCurrent Opinion in Allergy and Clinical ImmunologyWolters Kluwer Healthhttp://www.deepdyve.com/lp/wolters-kluwer-health/inherited-and-acquired-clinical-phenotypes-associated-with-0QJ8nWIQ3e
Inherited and acquired clinical phenotypes associated with neuroendocrine tumors
Purpose of reviewOverview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states.Recent findingsMalignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel–Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states. Of all primary immune deficiency diseases, NETs appear to be unique to XHIGM patients. Outcomes for XHIGM patients with NETs is poor, and the mechanism behind this association remains unclear. In secondary immune deficiency states, NET occurrences were primarily in patients with HIV or AIDS, the autoimmune disease systemic lupus erythematosus and solid organ transplant recipients. Gastroenteropancreatic NETs were most frequent in XHIGM patients, whereas nongastroenteropancreatic–NETs, like Merkel cell carcinoma and small-cell lung carcinoma, affected HIV/AIDS patients. Possible mechanisms as to the nature of these associations are discussed, including chronic infections and inflammation, and CD40–CD40L interactions. Many questions remain, and further studies are needed to clarify the predisposition of patients with XHIGM to the development of NETs. Given that many of these patients present late in their disease state and have poor outcomes, it is imperative to keep a high index of suspicion at the advent of early signs and symptoms. Regular monitoring with laboratory or imaging studies, including tumor markers, may be warranted, for which further studies are needed.SummaryOf all primary immunodeficiency diseases, NETs appear to be unique to XHIGM, and the mechanism behind this association remains unclear. Outcome for XHIGM patients with NETs is poor, and it is imperative to keep a high index of suspicion at the advent of early signs and symptoms.
Journal
Current Opinion in Allergy and Clinical Immunology
– Wolters Kluwer Health
Published: Dec 1, 2017
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References
Pathologic classification of neuroendocrine neoplasms
The origin of neuroendocrine tumors and the neural crest saga
Revised classification of neuroendocrine tumors of the lung, pancreas and gut
The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM
Variability of Ki67 labeling index in multiple neuroendocrine tumors specimens over the course of the disease
Pathology and genetics of tumours of the digestive system
Neuroendocrine tumours models for rare tumour management
The Eighth Edition AJCC Cancer Staging Manual: continuing to build a bridge from a population-based to a more ‘personalized’ approach to cancer staging
The epidemiology of gastroenteropancreatic neuroendocrine tumors
Pancreatic endocrine neoplasms: epidemiology and prognosis of pancreatic endocrine tumors
Prognostic factors influencing survival from metastatic (stage IV) gastroenteropancreatic well differentiated endocrine carcinoma
Chromogranin-A as a serum marker for neuroendocrine tumors: comparison with neuron-specific enolase and correlation with immunohistochemical findings
Diagnostic value of plasma chromogranin A in neuroendocrine tumours
The chromogranin-secretogranin family
ENETS consensus guidelines for the standards of care in neuroendocrine tumors: biochemical markers
Detection of liver metastases from endocrine tumors: a prospective comparison of somatostatin receptor scintigraphy, computed tomography, and magnetic resonance imaging
Role of interventional radiology in the treatment of patients with neuroendocrine metastases in the liver
ENETS Consensus Guidelines for the Standards of Care in Neuroendocrine Tumors: radiological examinations
ENETS Consensus Guidelines for the Standards of Care in Neuroendocrine Tumors: somatostatin receptor imaging with (111)In-pentetreotide
Comparison of transarterial liver-directed therapies for low-grade metastatic neuroendocrine tumors in a single institution
Laparoscopic radiofrequency thermal ablation of neuroendocrine hepatic metastases: long-term follow-up
Placebo-controlled, double-blind, prospective, randomized study on the effect of octreotide LAR in the control of tumor growth in patients with metastatic neuroendocrine midgut tumors: a report from the PROMID Study Group
Lanreotide in metastatic enteropancreatic neuroendocrine tumors
Antitumour effects of lanreotide for pancreatic and intestinal neuroendocrine tumours: the CLARINET open-label extension study
Placebo-controlled, double-blind, prospective, randomized study on the effect of octreotide LAR in the control of tumor growth in patients with metastatic neuroendocrine midgut tumors (PROMID): results of long-term survival
Preclinical and clinical studies of peptide receptor radionuclide therapy
Everolimus for advanced pancreatic neuroendocrine tumors
Sunitinib malate for the treatment of pancreatic neuroendocrine tumors
Efficacy of everolimus plus octreotide LAR in patients with advanced neuroendocrine tumor and carcinoid syndrome: final overall survival from the randomized, placebo-controlled phase 3 RADIANT-2 study
Neuroendocrine tumors of the pancreas
Recent updates on neuroendocrine tumors from the gastrointestinal and pancreatobiliary tracts
Neuroendocrine neoplasms of the gastrointestinal tract
Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years
Clinical review 155: Pheochromocytoma in Von Hippel–Lindau disease
ERK and Akt signaling pathways function through parallel mechanisms to promote mTORC1 signaling
Malignancies in the setting of primary immunodeficiency: Implications for hematologists/oncologists
Immunodeficiency with hyper-IgM (HIM)
Small-cell undifferentiated (neuroendocrine) carcinoma of the cecum in a child with common variable immunodeficiency
Clinical spectrum of X-linked hyper-IgM syndrome
Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients
X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case
Colonic neuroendocrine carcinoma in a child
X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
Small cell undifferentiated carcinoma of the colon associated with hepatocellular carcinoma in an immunodeficient patient
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature
Hyper IgM syndrome: a report from the USIDNET Registry
Clinical phenotypes of hyper-IgM syndromes
Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome
First report of the hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes
Risk of Merkel cell carcinoma after solid organ transplantation
Merkel cell carcinoma and HIV infection
Skin cancers associated with HIV infection and solid-organ transplantation among elderly adults
Listeria monocytogenes sepsis and small cell carcinoma of the rectum: an unusual presentation of the acquired immunodeficiency syndrome
Rectal small cell cancer in an HIV-positive man
Small cell carcinoma of the anus in a human HIV carrier: report of a case
Neuroendocrine (carcinoid) tumor of the mandible: a case report and review of the literature
Carcinoid tumor in the appendix in a patient with acquired immunodeficiency syndrome
An aggressive neuroendocrine tumour in a man with AIDS
Gastroenteropancreatic neuroendocrine tumors in patients with HIV infection: a trans-Atlantic series
Bona fide primary Merkel cell carcinoma of an intraparotid lymph node in a HIV-positive patient
Unusual case of HIV with Kaposi sarcoma and neuroendocrine tumour
Recurrent neuroendocrine (Merkel cell) carcinoma of the skin presenting as marrow failure in a man with systemic lupus erythematosus
Gastric carcinoid in a young woman with systemic lupus erythematosus and atrophic autoimmune gastritis
Gastric neuroendocrine tumors in a woman with systemic lupus erythematosus
Gastric carcinoid in chronic atrophic gastritis with hypergastrinemia
Gastric carcinoid in a young woman with systemic lupus erythematosus and atrophic autoimmune gastritis
Successful endoscopic submucosal dissection of gastric carcinoid in a patient with autoimmune gastritis and systemic lupus erythematosus
Organ transplant recipients with Merkel cell carcinoma have reduced progression-free, overall, and disease-specific survival independent of stage at presentation
Neuroendocrine carcinomas arising in solid-organ transplant recipients: rare but aggressive malignancies
Research and innovation in the development of everolimus for oncology
A randomized, open-label, phase 2 study of everolimus in combination with pasireotide LAR or everolimus alone in advanced, well differentiated, progressive pancreatic neuroendocrine tumors: COOPERATE-2 trial
Targeting angiogenesis driven by vascular endothelial growth factors using antibody-based therapies
Angiogenesis in neuroendocrine tumors: therapeutic applications
Endothelial Akt signaling is rate-limiting for rapamycin inhibition of mouse mammary tumor progression
Pathological angiogenesis is induced by sustained Akt signaling and inhibited by rapamycin
The emerging role of CD40 ligand in HIV infection
Highly active antiretroviral therapy in patients infected with human immunodeficiency virus increases CD40 ligand expression and IL-12 production in cells ex vivo
Squamous metaplasia of extrahepatic biliary system in an AIDS patient with cryptosporidia and cholangitis
Immune modulation with weekly dosing of an agonist CD40 antibody in a phase I study of patients with advanced solid tumors
CD40 agonists alter tumor stroma and show efficacy against pancreatic carcinoma in mice and humans
A phase I study of an agonist CD40 monoclonal antibody (CP-870,893) in combination with gemcitabine in patients with advanced pancreatic ductal adenocarcinoma
Agonistic CD40 antibodies and cancer therapy
Phase I study of the CD40 agonist antibody CP-870,893 combined with carboplatin and paclitaxel in patients with advanced solid tumors
Prospect of targeting the CD40 pathway for cancer therapy
CD40/CD40L expression correlates with the survival of patients with glioblastomas and an augmentation in CD40 signaling enhances the efficacy of vaccinations against glioma models
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