scholarly journals Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Tine Gregersen ◽  
Nanna Holt ◽  
Henning Gronbaek ◽  
Ida Vogel ◽  
Lars J. Jørgensen ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Neuroendocrine Tumors ◽  
Goblet Cell ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Goblet Cell Carcinoid ◽  
Autosomal Dominant Disorder ◽  
Rare Tumors

Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix. Neurofibromatosis type 1 is an autosomal dominant disorder caused by a mutation in theNF1gene. Patients with neurofibromatosis type 1 have an increased incidence of typical neuroendocrine tumors, but it is unknown if this is the case with goblet cell carcinoids. We describe a patient with both neurofibromatosis type 1 and goblet cell carcinoid, that according to literature would occur in 0.00017 per million per year. This may suggest a previously unknown association between neurofibromatosis type 1 and goblet cell carcinoids.

scholarly journals Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)

2020 ◽  
Vol 13 (1) ◽  
pp. e227379
Author(s):  
Gustavo Ferrer ◽  
Alwiya Omar Saleh ◽  
Henry D Tazelaar ◽  
Andrea V Arrossi
Keyword(s):  
Interstitial Pneumonia ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Interstitial Fibrosis ◽  
Neurofibromatosis Type ◽  
Pulmonary Involvement ◽  
Autosomal Dominant Disorder ◽  
Systemic Manifestations ◽  
Von Recklinghausen

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with multiple systemic manifestations. Pulmonary involvement has been reported in the form of interstitial fibrosis, emphysema, pulmonary hypertension and thoracic neoplasm. We report a case of desquamative interstitial pneumonia in a non-smoker with NF1.

scholarly journals Goblet Cell Carcinoid of the Rectum in a Patient with Neurofibromatosis Type 1

2016 ◽  
Vol 50 (6) ◽  
pp. 482-485 ◽  
Author(s):  
Youngjin Kang ◽  
Jung-Woo Choi ◽  
Younghye Kim ◽  
Hwa Eun Oh ◽  
Ju-Han Lee ◽  
...  
Keyword(s):  
Goblet Cell ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Goblet Cell Carcinoid

Evaluation of neurofibromatosis type 1 and gastroenteropancreatic neuroendocrine tumors.

2018 ◽  
Author(s):  
Juan Carlos Percovich ◽  
Jose Atencia ◽  
Rogelio Garcia ◽  
Marcel Sambo ◽  
Montserrat Blanco ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gastroenteropancreatic Neuroendocrine Tumors

scholarly journals An Update on Neurofibromatosis Type 1-Associated Gliomas

Cancers ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 114 ◽  
Author(s):  
Lobbous ◽  
Bernstock ◽  
Coffee ◽  
Friedman ◽  
Metrock ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Central Nervous System Neoplasms ◽  
Therapeutic Landscape ◽  
Nervous System Neoplasms ◽  
Collaborative Efforts

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss the spectrum of intracranial gliomas arising in individuals with NF1 with a focus on recent preclinical and clinical data. In this review, possible mechanisms of gliomagenesis are discussed, including the contribution of different signaling pathways and tumor microenvironment. Furthermore, we discuss the recent notable advances in the developing therapeutic landscape for NF1-associated gliomas including clinical trials and collaborative efforts.

Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1

2017 ◽  
Vol 52 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Daniele Bissacco ◽  
Maurizio Domanin ◽  
Silvia Romagnoli ◽  
Edoardo Martelli ◽  
Vittorio Civelli ◽  
...  
Keyword(s):  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Spontaneous Rupture ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Occipital Artery ◽  
Endovascular Approach ◽  
Spontaneous Hematoma

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder, mainly characterized by skin and peripheral nervous system abnormalities. Uncommonly, NF-1 may be associated with peripheral or supra-aortic trunks artery aneurysms. We report a case of symptomatic multiple occipital artery aneurysms detected in a 53-year-old woman affected by sporadic NF-1. An endovascular approach was performed to exclude aneurysms and to stop laterocervical spontaneous hematoma.

scholarly journals Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

2016 ◽  
Vol 62 (1) ◽  
pp. 155-158
Author(s):  
Raluca-Monica Pop ◽  
Radu Mircea Neagoe ◽  
Melinda Kolcsar ◽  
Ionela Paşcanu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Parathyroid Tissue ◽  
Neurofibromatosis Type ◽  
Needle Aspiration ◽  
Autosomal Dominant Disorder ◽  
Thyroid Lesion ◽  
Neurogenic Tumors ◽  
Multiple Neoplasms

AbstractBackground: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various endocrine pathologies are often present, among them, hyperparathyroidism and follicular thyroid lesion are very rare described and their coincidence in the same patient has not been described in the literature reviewed.Subject: A 59-years-old woman with clinical manifestation of neurofibromatosis type 1 developed dysphagia, dysphonia, choking sensation. Physical and imagistic examination revealed a multinodular goiter with microfollicular lesion on fine needle aspiration biopsy (FNAB), elevated parathormone levels and severe osteoporosis. The surgically removed thyroid contained a nodule with follicular architecture of uncertain malignant potential; the parathyroid tissue appeared normal.Discussion and conclusion: This case serves as a reminder to look for non-neurogenic tumors in patients with neurofibromatosis. Clinicians must be aware of the diverse clinical features of this genetic disorder.

Neurofibromatosis Type 1–Associated Inflammatory Polyp of the Gastrointestinal Tract

2016 ◽  
Vol 25 (1) ◽  
pp. 65-68 ◽  
Author(s):  
Keisuke Goto ◽  
Takuya Hirosaki ◽  
Mariko Masubuchi
Keyword(s):  
Gastrointestinal Tract ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Ascending Colon ◽  
Hyperplastic Polyps ◽  
Distinct Entity ◽  
Inflammatory Polyp ◽  
Fibroid Polyp ◽  
Resected Case

The entity known as “juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1 (NF1)” was recently proposed, but is not well known. Here, we describe the characteristics of this entity in a surgically resected case. The hemorrhagic 2 × 1 cm–sized polyp was resected from the ascending colon of a 55-year-old male NF1 patient. The polyp was composed of characteristic multiple mucosal protrusions and submucosal elements that included vasculopathic changes. Histologically, this lesion was similar to an inflammatory fibroid polyp rather than juvenile or hyperplastic polyps. This disease could be a distinct entity, and “inflammatory vasculopathic polyp” would be a suitable name.

Neurofibromatosis Type 1

2017 ◽  
Author(s):  
David S. Wolf
Keyword(s):  
Learning Disabilities ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Vascular Abnormalities ◽  
Hyperactivity Disorder ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

scholarly journals The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Cem Yucel ◽  
Salih Budak ◽  
Erdem Kisa ◽  
Orcun Celik ◽  
Zafer Kozacioglu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Neurofibromatosis Type ◽  
Urinary System ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Bladder Leiomyoma ◽  
Von Recklinghausen

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.

scholarly journals Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Masato Kimura ◽  
Shuhei Kakizaki ◽  
Kengo Kawano ◽  
Shinichi Sato ◽  
Shigeo Kure
Keyword(s):  
Thoracic Aorta ◽  
Neurofibromatosis Type 1 ◽  
Aortic Coarctation ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Lisch Nodules ◽  
Atypical Coarctation ◽  
Graft Interposition

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1.

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