scholarly journals Small, low-grade ampullary neuroendocrine tumor presenting with metastasis and multiple synchronous tumors in a patient with neurofibromatosis type 1: a case report with literature review

2021 ◽  
Vol 2021 (3) ◽  
Author(s):  
Kevin Xiao ◽  
Sharon Swierczynski ◽  
Gary Xiao
Keyword(s):  
Neuroendocrine Tumor ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorders ◽  
Intraepithelial Neoplasia ◽  
Neurofibromatosis Type ◽  
Whipple Procedure ◽  
Side Branch ◽  
Low Grade ◽  
Increased Risk

ABSTRACT Neurofibromatosis type 1 (NF1) is a tumor syndrome and one of the most common genetic disorders. Patients have an increased risk of developing neurologic and gastrointestinal (GI) neoplasms, but GI lesions are often underrecognized since most cases are asymptomatic. It is extremely rare to see multiple types of abdominal tumors synchronously in NF1. In this case, we describe a patient presenting with a small, low-grade periampullary neuroendocrine tumor (NET) that underwent endoscopic submucosal dissection and later pancreaticoduodenectomy (Whipple procedure). This led to findings of lymph node and distant metastasis of her NET, and the incidental discovery of gastrointestinal stromal tumors, extensive pancreatic intraepithelial neoplasia, and main duct and side branch intraductal pancreatic mucinous neoplasm. The synchronous presence of these lesions has not been reported in the literature.

scholarly journals Brain tumors in neurofibromatosis type 1

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i85-i97
Author(s):  
Amanda De Andrade Costa ◽  
David H Gutmann
Keyword(s):  
Tumor Growth ◽  
Neurofibromatosis Type 1 ◽  
Vision Loss ◽  
Critical Role ◽  
Neurofibromatosis Type ◽  
Therapeutic Drug ◽  
Low Grade ◽  
Increased Risk ◽  
Genetically Engineered Mice

Abstract AbstractAs a cancer predisposition syndrome, individuals with neurofibromatosis type 1 (NF1) are at increased risk for the development of both benign and malignant tumors. One of the most common locations for these cancers is the central nervous system, where low-grade gliomas predominate in children. During early childhood, gliomas affecting the optic pathway are most frequently encountered, whereas gliomas of the brainstem and other locations are observed in slightly older children. In contrast, the majority of gliomas arising in adults with NF1 are malignant cancers, typically glioblastoma, involving the cerebral hemispheres. Our understanding of the pathogenesis of NF1-associated gliomas has been significantly advanced through the use of genetically engineered mice, yielding new targets for therapeutic drug design and evaluation. In addition, Nf1 murine glioma models have served as instructive platforms for defining the cell of origin of these tumors, elucidating the critical role of the tumor microenvironment in determining tumor growth and vision loss, and determining how cancer risk factors (sex, germline NF1 mutation) impact on glioma formation and progression. Moreover, these preclinical models have permitted early phase analysis of promising drugs that reduce tumor growth and attenuate vision loss, as an initial step prior to translation to human clinical trials.

scholarly journals Cerebellar glioblastoma multiforme in an adult patient with neurofibromatosis type 1: an extremely rare report with review of literature

2019 ◽  
Vol 55 (1) ◽  
Author(s):  
Nima Derakhshan ◽  
Nazanin Azadeh ◽  
Arash Saffarian ◽  
Mousa Taghipour ◽  
Keyvan Eghbal ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
High Grade Glioma ◽  
Neurofibromatosis Type ◽  
Pathology Report ◽  
Low Grade ◽  
Cerebellar Glioblastoma ◽  
Increased Risk

Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder with autosomal dominant inheritance which predisposes the affected individuals to increased risk of developing certain benign and malignant central nervous system (CNS) tumors. NF1 patients are most notably prone to develop low-grade optic pathway, brainstem, and cerebellar astrocytoma. Current literature suggests that brain tumors in patients with NF1 tend to be less aggressive compared to sporadic ones. Glioblastoma multiforme (GBM) is a high-grade glioma which is relatively rare in patients with NF1 and is most commonly seen in supratentorial regions of the brain. Case presentation A 33-year-old patient was admitted in neurosurgery ward with acute hydrocephalus caused by a cerebellar mass lesion. On primary assessment, the patient was diagnosed with NF1. He was followed for 2 months and underwent surgical resection of the mass due to worsening symptoms. The pathology report revealed the malignant nature of the lesion. Patient received adjuvant chemo-radiotherapy with diagnosis of cerebellar GBM. Up to 19 months following surgery, he had gained a relatively well ability to walk and talk again.

scholarly journals Pulmonary hypertension associated with neurofibromatosis type 1

2018 ◽  
Vol 27 (149) ◽  
pp. 180053 ◽  
Author(s):  
Etienne-Marie Jutant ◽  
Barbara Girerd ◽  
Xavier Jaïs ◽  
Laurent Savale ◽  
Caroline O'Connell ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Disease ◽  
Increased Risk ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”. A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways.

scholarly journals A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1–associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study

2020 ◽  
Vol 22 (10) ◽  
pp. 1527-1535 ◽  
Author(s):  
Nicole J Ullrich ◽  
Sanjay P Prabhu ◽  
Alyssa T Reddy ◽  
Michael J Fisher ◽  
Roger Packer ◽  
...  
Keyword(s):  
Phase Ii ◽  
Neurofibromatosis Type 1 ◽  
Mtor Inhibitor ◽  
Neurofibromatosis Type ◽  
Mtor Pathway ◽  
Pharmacokinetic Parameters ◽  
Low Grade ◽  
Nerve Sheath Tumor ◽  
Pathway Inhibition

Abstract Background Activation of the mammalian target of rapamycin (mTOR) pathway is observed in neurofibromatosis type 1 (NF1) associated low-grade gliomas (LGGs), but agents that inhibit this pathway, including mTOR inhibitors, have not been studied in this population. We evaluate the efficacy of the orally administered mTOR inhibitor everolimus for radiographically progressive NF1-associated pediatric LGGs. Methods Children with radiologic-progressive, NF1-associated LGG and prior treatment with a carboplatin-containing chemotherapy were prospectively enrolled on this phase II clinical trial to receive daily everolimus. Whole blood was analyzed for everolimus and markers of phosphatidylinositol-3 kinase (PI3K)/mTOR pathway inhibition. Serial MRIs were obtained during treatment. The primary endpoint was progression-free survival at 48 weeks. Results Twenty-three participants (median age, 9.4 y; range, 3.2–21.6 y) were enrolled. All participants were initially evaluable for response; 1 patient was removed from study after development of a malignant peripheral nerve sheath tumor. Fifteen of 22 participants (68%) demonstrated a response, defined as either shrinkage (1 complete response, 2 partial response) or arrest of tumor growth (12 stable disease). Of these, 10/15 remained free of progression (median follow-up, 33 mo). All remaining 22 participants were alive at completion of therapy. Treatment was well tolerated; no patient discontinued therapy due to toxicity. Pharmacokinetic parameters and pre-dose concentrations showed substantial between-subject variability. PI3K/mTOR pathway inhibition markers demonstrating blood mononuclear cell mTOR pathway inactivation was achieved in most participants. Conclusion Individuals with recurrent/progressive NF1-associated LGG demonstrate significant disease stability/shrinkage during treatment with oral everolimus with a well-tolerated toxicity profile. Everolimus is well suited for future consideration as upfront or combination therapy in this patient population.

scholarly journals Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1

2019 ◽  
Vol 12 (7) ◽  
pp. e228170 ◽  
Author(s):  
James Ritchie Gill ◽  
Tamer Magid EL Nakhal ◽  
Soo-Mi Park ◽  
Mariusz Chomicki
Keyword(s):  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Pathological Fracture ◽  
Neurofibromatosis Type ◽  
Ossifying Fibroma ◽  
Pathological Fractures ◽  
Cast Immobilisation ◽  
Increased Risk ◽  
Operative Fixation

We report the management of a pathological fracture through a proximal tibial non-ossifying fibroma (NOF) in a 13-year-old girl with neurofibromatosis type 1 (NF1). The fracture was minimally displaced, and the lesion had clinical features of a NOF, and therefore biopsy was not required. Operative fixation has been the preferred method of treatment for pathological fractures through NOF associated with NF1. Multiple NOFs associated with NF1 are rare but can coalesce resulting in large lesions with an increased risk of pathological fracture. In cases which permit, non-operative treatment with cast immobilisation can yield satisfactory results.

scholarly journals Increased risk of breast cancer in neurofibromatosis type 1: current insights

2017 ◽  
Vol Volume 9 ◽  
pp. 531-536 ◽  
Author(s):  
Sacha J Howell ◽  
Kimberley Hockenhull ◽  
Zena Salih ◽  
D Gareth Evans
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Increased Risk

scholarly journals Safe marginal resection of atypical neurofibromas in neurofibromatosis type 1

2020 ◽  
Vol 133 (5) ◽  
pp. 1516-1526 ◽  
Author(s):  
Charlie N. Nelson ◽  
Eva Dombi ◽  
Jared S. Rosenblum ◽  
Markku M. Miettinen ◽  
Tanya J. Lehky ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Fdg Pet ◽  
Standardized Uptake Value ◽  
Neurofibromatosis Type ◽  
Subtotal Resection ◽  
Histopathological Analysis ◽  
Low Grade ◽  
Surgical Morbidity ◽  
Peripheral Nerve Sheath Tumors

OBJECTIVEPatients with neurofibromatosis type 1 (NF1) are predisposed to visceral neurofibromas, some of which can progress to premalignant atypical neurofibromas (ANFs) and malignant peripheral nerve sheath tumors (MPNSTs). Though subtotal resection of ANF may prevent malignant transformation and thus deaths with no neural complications, local recurrences require reoperation. The aim of this study was to assess the surgical morbidity associated with marginal resection of targeted ANF nodules identified via preoperative serial volumetric MRI and 18F-FDG-PET imaging.METHODSThe authors analyzed clinical outcomes of 16 NF resections of 21 tumors in 11 NF1 patients treated at the NIH Clinical Center between 2008 and 2018. Preoperative volumetric growth rates and 18F-FDG-PET SUVMax (maximum standardized uptake value within the tumor) of the target lesions and any electromyographic or nerve conduction velocity abnormalities of the parent nerves were measured and assessed in tandem with postoperative complications, histopathological classification of the resected tumors, and surgical margins through Dunnett’s multiple comparisons test and t-test. The surgical approach for safe marginal resection of ANF was also described.RESULTSEleven consecutive NF1 patients (4 male, 7 female; median age 18.5 years) underwent 16 surgical procedures for marginal resections of 21 tumors. Preoperatively, 13 of the 14 (93%) sets of serial MRI studies and 10 of the 11 (91%) 18F-FDG-PET scans showed rapid growth (≥ 20% increase in volume per year) and avidity (SUVMax ≥ 3.5) of the identified tumor, respectively (median tumor size 48.7 cm3; median growth rate 92% per year; median SUVMax 6.45). Most surgeries (n = 14, 88%) resulted in no persistent postoperative parent nerve–related complications, and to date, none of the resected tumors have recurred. The median length of postoperative follow-up has been 2.45 years (range 0.00–10.39 years). Histopathological analysis confirmed significantly greater SUVMax among the ANFs (6.51 ± 0.83, p = 0.0042) and low-grade MPNSTs (13.8, p = 0.0001) than in benign neurofibromas (1.9).CONCLUSIONSThis report evaluates the utility of serial imaging (MRI and 18F-FDG-PET SUVMax) to successfully detect ANF and demonstrates that safe, fascicle-sparing gross-total, extracapsular resection of ANF is possible with the use of intraoperative nerve stimulation and microdissection of nerve fascicles.

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