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https://www.readbyqxmd.com/read/29785566/delineating-a-new-feature-of-constitutional-mismatch-repair-deficiency-cmmrd-syndrome-breast-cancer
#1
Lisa Bush, Melyssa Aronson, Uri Tabori, Brittany B Campbell, Raymond B Bedgood, Kory Jasperson
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27...
May 21, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29774626/analysis-of-intra-tumor-heterogeneity-in-neurofibromatosis-type-1-plexiform-neurofibromas-and-neurofibromas-with-atypical-features-correlating-histological-and-genomic-findings
#2
Meritxell Carrió, Bernat Gel, Ernest Terribas, Adriana Carolina Zucchiatti, Teresa Moliné, Inma Rosas, Álex Teulé, Santiago Ramón Y Cajal, Juan Carlos López-Gutiérrez, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Anat Stemmer-Rachamimov, Cleofé Romagosa, Eduard Serra
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large nerves present in 30-50% Neurofibromatosis type 1 (NF1) patients. Atypical neurofibromas (ANF) are distinct nodular lesions with atypical features on histology that arise from PNFs. The risk and timeline of malignant transformation in ANF is difficult to assess. A recent NIH workshop has stratified ANFs and separated a subgroup with multiple atypical features and higher risk of malignant transformation termed atypical neurofibromatous neoplasms with uncertain biological potential (ANNUBP)...
May 17, 2018: Human Mutation
https://www.readbyqxmd.com/read/29768331/the-value-of-18f-fdg-pet-ct-in-patient-with-neurofibromatosis-type-1-a-case-report-and-literature-review
#3
Jiazhong Ren, Guoren Yang, Jing Zhou, Zheng Fu
RATIONALE: Neurofibromatosis type one (NF1) is characterized by cutaneous and nervous lesions, and the tendency to form plexiform neurofibromas (PNFs). PNFs may undergo malignant transformation into a malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs often carry an significant morbidity and mortality. PATIENT CONCERNS: A 17-year-old man with gradually increased multiple subcutaneous soft lesions. He also presented with numerous lentigines and multiple café-au-lait macules on his body...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766345/visual-function-assessed-by-visually-evoked-potentials-in-optic-pathway-low-grade-gliomas-with-and-without-neurofibromatosis-type-1
#4
Patrícia de Freitas Dotto, Adriana Berezovsky, Andrea Maria Cappellano, Nasjla Saba da Silva, Paula Yuri Sacai, Frederico Adolfo B Silva, Arthur Gustavo Fernandes, Daniel Martins Rocha, Solange Rios Salomão
PURPOSE: To investigate the contribution of full-field transient pattern-reversal visually evoked potentials (PRVEP) on cross-sectional evaluations of visual function in patients with and without neurofibromatosis type 1 (NF1) affected by optic pathway low-grade gliomas (OPLGG). METHODS: Participants were children and adolescents referred for visual function evaluation and receiving treatment for OPLGG, linked (NF1-OPLGG) or not to NF1 (Non-NF1-OPLGG). An age-adjusted control group was included for comparison...
May 15, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29764701/a-combination-of-skeletal-deformations-of-the-dorsal-mandible-and-temporomandibular-region-detected-in-orthopantomograms-of-patients-with-neurofibromatosis-type-1-indicates-an-associated-ipsilateral-plexiform-neurofibroma
#5
Reinhard E Friedrich, Anika Reul
PURPOSE: Neurofibromatosis type 1 (NF1) is a tumour suppressor syndrome and also a bone disease. In the craniofacial region, local skeletal deformities have been recorded in patients with NF1. Obvious syndrome-related alterations of the jaws are particularly conspicuous in the mandible. Here we aimed to analyse the mandibular alterations of NF1-affected individuals from orthopantomograms (OPGs). MATERIALS AND METHODS: This study analyses 358 OPGs of 358 patients (mean age, 34...
April 26, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29763623/molecular-pathological-radiological-and-immune-profiling-of-non-brainstem-pediatric-high-grade-glioma-from-the-herby-phase-ii-randomized-trial
#6
Alan Mackay, Anna Burford, Valeria Molinari, David T W Jones, Elisa Izquierdo, Jurriaan Brouwer-Visser, Felice Giangaspero, Christine Haberler, Torsten Pietsch, Thomas S Jacques, Dominique Figarella-Branger, Daniel Rodriguez, Paul S Morgan, Pichai Raman, Angela J Waanders, Adam C Resnick, Maura Massimino, Maria Luisa Garrè, Helen Smith, David Capper, Stefan M Pfister, Thomas Würdinger, Rachel Tam, Josep Garcia, Meghna Das Thakur, Gilles Vassal, Jacques Grill, Tim Jaspan, Pascale Varlet, Chris Jones
The HERBY trial was a phase II open-label, randomized, multicenter trial evaluating bevacizumab (BEV) in addition to temozolomide/radiotherapy in patients with newly diagnosed non-brainstem high-grade glioma (HGG) between the ages of 3 and 18 years. We carried out comprehensive molecular analysis integrated with pathology, radiology, and immune profiling. In post-hoc subgroup analysis, hypermutator tumors (mismatch repair deficiency and somatic POLE/POLD1 mutations) and those biologically resembling pleomorphic xanthoastrocytoma ([PXA]-like, driven by BRAF_V600E or NF1 mutation) had significantly more CD8+ tumor-infiltrating lymphocytes, and longer survival with the addition of BEV...
May 14, 2018: Cancer Cell
https://www.readbyqxmd.com/read/29762158/recent-advances-in-the-diagnosis-and-pathogenesis-of-neurofibromatosis-type-1-nf1-associated-peripheral-nervous-system-neoplasms
#7
Jody F Longo, Shannon M Weber, Brittany P Turner-Ivey, Steven L Carroll
The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST) often raises the question of whether the patient has the genetic disorder neurofibromatosis type 1 (NF1) as well as how this will impact the patient's outcome, what their risk is for developing additional neoplasms and whether treatment options differ for NF1-associated and sporadic peripheral nerve sheath tumors. Establishing a diagnosis of NF1 is challenging as this disorder has numerous neoplastic and non-neoplastic manifestations which are variably present in individual patients...
May 4, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29760048/tipifarnib-inhibits-hras-driven-dedifferentiated-thyroid-cancers
#8
Brian R Untch, Vanessa Dos Anjos, Maria E R Garcia-Rendueles, Jeffrey A Knauf, Gnana P Krishnamoorthy, Mahesh Saqcena, Umeshkumar K Bhanot, Nicholas D Socci, Alan L Ho, Ronald Ghossein, James A Fagin
Of the three RAS oncoproteins, only HRAS is delocalized and inactivated by farnesyltransferase inhibitors (FTI), an approach yet to be exploited clinically. In this study, we treat mice bearing Hras-driven poorly differentiated and anaplastic thyroid cancers (Tpo-Cre/HrasG12V/p53flox/flox) with the FTI tipifarnib. Treatment caused sustained tumor regression and increased survival; however, early and late resistance was observed. Adaptive reactivation of RAS-MAPK signaling was abrogated in vitro by selective RTK (i...
May 14, 2018: Cancer Research
https://www.readbyqxmd.com/read/29754292/investigation-of-retinal-nerve-fiber-layer-thickness-and-ganglion-cell-layer-inner-plexiform-layer-thickness-in-patients-with-optic-pathway-gliomas
#9
Mustafa Hepokur, Ahmet Murat Sarici
PURPOSE: This study aimed to compare the optical coherence tomography (OCT) findings of optic pathway glioma (OPG) patients (sporadic or secondary to neurofibromatosis type 1, NF1) with NF1 without OPG patients and healthy controls. METHODS: This was a prospective, case-control study in which 27 patients (13 with OPGs and 14 with NF1 without OPGs) and 13 control subjects were included. The retinal nerve fiber layer (RNFL) thickness, macular thickness, and ganglion cell layer-inner plexiform layer (GCL-IPL) thickness findings measured using OCT and the results were compared between the groups...
May 12, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#10
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29730711/pronounced-maternal-parent-of-origin-bias-for-type-1-nf1-microdeletions
#11
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki
Neurofibromatosis type 1 (NF1) is caused, in 4.7-11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2. Different types of large NF1 deletion occur which are distinguishable by their breakpoint location and underlying mutational mechanism. Most common are the type-1 NF1 deletions of 1.4 Mb which exhibit recurrent breakpoints caused by nonallelic homologous recombination (NAHR), also termed unequal crossover. Here, we analyzed 37 unrelated families of patients with de novo type-1 NF1 deletions by means of short tandem repeat (STR) profiling to determine the parental origin of the deletions...
May 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29726952/comprehensive-genetic-analysis-of-follicular-thyroid-carcinoma-predicts-prognosis-independent-of-histology
#12
Norman G Nicolson, Timothy D Murtha, Weilai Dong, Johan O Paulsson, Jungmin Choi, Andrea L Barbieri, Taylor C Brown, John W Kunstman, Catharina Larsson, Manju L Prasad, Reju Korah, Richard P Lifton, C Christofer Juhlin, Tobias Carling
Context: Follicular thyroid cancer (FTC) is classified into minimally invasive (miFTC), encapsulated angioinvasive (eaFTC), and widely invasive (wiFTC) subtypes, according to the 2017 World Health Organization (WHO) guidelines. The genetic signatures of these subtypes may be crucial for diagnosis, prognosis, and treatment, but have not been described. Objective: Identify and describe the genetic underpinnings of subtypes of follicular thyroid cancer. Methods: Thirty-nine tumors, comprising 12 miFTCs, 17 eaFTCs, and 10 wiFTCs were whole-exome sequenced and analyzed...
May 2, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29721253/neurofibromatosis-type-i-and-multiple-myeloma-coexistence-a-possible-link
#13
Fabrizio Accardi, Valentina Marchica, Cristina Mancini, Elena Maredi, Costantina Racano, Laura Notarfranchi, Davide Martorana, Paola Storti, Eugenia Martella, Benedetta Dalla Palma, Luisa Craviotto, Massimo De Filippo, Antonio Percesepe, Franco Aversa, Nicola Giuliani
The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the scientific community two new cases. The first one is a patient with active MM whereas the second with smoldering MM. Both patients present typical features of NF1 but skeletal alterations were present only in the second case including dysplasia, marked scoliosis and osteoporosis. MM osteolytic lesions were absent in both patients. In addition to the clinical diagnosis of NF1, a molecular testing for NF1 gene mutations has been performed finding that patient one was heterozygous for the c...
March 2, 2018: Hematology Reports
https://www.readbyqxmd.com/read/29720369/genomic-status-of-met-potentiates-sensitivity-to-met-and-mek-inhibition-in-nf1-related-malignant-peripheral-nerve-sheath-tumors
#14
Jacqueline D Peacock, Matthew G Pridgeon, Elizabeth A Tovar, Curt J Essenburg, Megan J Bowman, Zachary B Madaj, Julie Koeman, Elissa A Boguslawski, Jamie Grit, Rebecca D Dodd, Vadim Khachaturov, Diana M Cardona, Mark Chen, David G Kirsch, Flavio Maina, Rosanna Dono, Mary E Winn, Carrie R Graveel, Matthew R Steensma
Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are highly resistant sarcomas that occur in up to 13% of individuals with Neurofibromatosis Type 1 (NF1). Genomic analysis of longitudinally collected tumor samples in a case of MPNST disease progression revealed early hemizygous microdeletions in NF1 and TP53, with progressive amplifications of MET, HGF, and EGFR. To examine the role of MET in MPNST progression, we developed mice with enhanced MET expression and Nf1 ablation (Nf1fl/KO;lox-stop-loxMETtg/+;Plp-creERTtg/+; referred to as NF1 MET)...
May 2, 2018: Cancer Research
https://www.readbyqxmd.com/read/29718344/association-of-plexiform-neurofibroma-volume-changes-and-development-of-clinical-morbidities-in-neurofibromatosis-1
#15
Andrea M Gross, Gurbani Singh, Srivandana Akshintala, Andrea Baldwin, Eva Dombi, Somto Ukwuani, Anne Goodwin, David J Liewehr, Seth M Steinberg, Brigitte C Widemann
Background: Plexiform neurofibromas (PN) in neurofibromatosis 1 (NF1) can cause substantial morbidities. Clinical trials targeting PN have recently described decreases in PN volumes. However, no previous study has assessed the association between changes in PN volumes and PN related morbidities. Our objective was to assess if increasing PN volume in NF1 is associated with increasing PN related morbidity. Methods: Retrospective review of patients enrolled on the NCI NF1 Natural History study with ≥ 7 years of data available...
April 28, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29707374/successful-surgical-treatment-of-massive-spontaneous-hemothorax-due-to-intrathoracic-secondary-degeneration-of-a-neurofibroma-from-mediastinal-involvement-of-type-1-neurofibromatosis
#16
Seong Cheol Jeong, Jae Jun Kim, Si Young Choi, Yong Hwan Kim, In Sub Kim
Massive hemothorax caused by a mediastinal mass is extremely rare. Herein, we present a case of successful surgery for a massive hemothorax caused by intrathoracic cystic hemorrhagic degeneration of a neurofibroma in a patient with neurofibromatosis type 1 (NF1). A 44-year-old man with NF1 was admitted to our emergency department for chest pain and dyspnea. Image studies revealed a massive hemothorax caused by a posterior mediastinal mass adjacent to the descending aorta and the spinal canal. The tumor, located at the fourth to the sixth thoracic vertebra, had diffusely and extensively infiltrated around proliferative vessels...
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29704429/insights-into-optic-pathway-glioma-vision-loss-from-mouse-models-of-neurofibromatosis-type-1
#17
REVIEW
Morgan E Freret, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 gene. The NF1-encoded protein (neurofibromin) is an inhibitor of the oncoprotein RAS and controls cell growth and survival. Individuals with NF1 are prone to developing low-grade tumors of the optic nerves, chiasm, tracts, and radiations, termed optic pathway gliomas (OPGs), which can cause vision loss. A paucity of surgical tumor specimens and of patient-derived xenografts for investigative studies has limited our understanding of human NF1-associated OPG (NF1-OPG)...
April 28, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29703253/smad4-and-nf1-mutations-as-potential-biomarkers-for-poor-prognosis-to-cetuximab-based-therapy-in-chinese-metastatic-colorectal-cancer-patients
#18
Zhu Mei, Yang W Shao, Peinan Lin, Xiaomin Cai, Biao Wang, Yan Ding, Xiangyuan Ma, Xue Wu, Yewei Xia, Dongqin Zhu, Yongqian Shu, Zan Fu, Yanhong Gu
BACKGROUND: Cetuximab, an anti-EGFR monoclonal antibody, is used in combination with chemotherapy in clinic to enhance the outcome in metastatic colorectal cancer (mCRC) patients with only ~ 20% response rate. To date only activating mutations in KRAS and NRAS have been identified as poor prognosis biomarkers in cetuximab-based treatment, which makes an urgent need for identification of novel prognosis biomarkers to precisely predict patients' response in order to maximize the benefit...
April 27, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29695767/cutaneous-neurofibromas-in-the-genomics-era-current-understanding-and-open-questions
#19
REVIEW
Robert J Allaway, Sara J C Gosline, Salvatore La Rosa, Pamela Knight, Annette Bakker, Justin Guinney, Lu Q Le
Cutaneous neurofibromas (cNF) are a nearly ubiquitous symptom of neurofibromatosis type 1 (NF1), a disorder with a broad phenotypic spectrum caused by germline mutation of the neurofibromatosis type 1 tumour suppressor gene (NF1). Symptoms of NF1 can include learning disabilities, bone abnormalities and predisposition to tumours such as cNFs, plexiform neurofibromas, malignant peripheral nerve sheath tumours and optic nerve tumours. There are no therapies currently approved for cNFs aside from elective surgery, and the molecular aetiology of cNF remains relatively uncharacterised...
April 26, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29694637/increased-insulin-sensitivity-in-individuals-with-neurofibromatosis-type-1
#20
Aline Stangherlin Martins, Ann Kristine Jansen, Luiz Oswaldo Carneiro Rodrigues, Camila Maria Matos, Marcio Leandro Ribeiro Souza, Débora Marques Miranda, Nilton Alves de Rezende
Objects To compare insulin resistance (IR) and metabolic aspects of patients with neurofibromatosis type 1 (NF1) and individuals without the disease. Subjects and methods Forty patients with NF1 were matched by sex, age, and body mass index (BMI) to 40 controls from the community. Blood samples were collected for biochemical assessment. Homeostasis model assessment adiponectin (HOMA-AD), Homeostasis model assessment insulin resistance (HOMA-IR), and adiponectin/leptin ratio (ALR) were used to identify IR. Results The median HOMA-IR values were similar between the groups...
February 2018: Archives of Endocrinology and Metabolism
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