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Neurofibromatosis

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https://www.readbyqxmd.com/read/27922148/a-case-of-a-patient-with-neurofibromatosis-type-i-presenting-with-abdominal-pain
#1
Shi Yuan Wang, Tien Jin Tan
No abstract text is available yet for this article.
November 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#2
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
December 5, 2016: Human Genetics
https://www.readbyqxmd.com/read/27920686/single-agent-carboplatin-for-a-rare-case-of-pilomyxoid-astrocytoma-of-the-spinal-cord-in-an-adult-with-neurofibromatosis-type-1
#3
Anastasie M Dunn-Pirio, Elizabeth Howell, Roger E McLendon, Katherine B Peters
INTRODUCTION: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. METHODS: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920660/neurofibroma-of-the-colon-a-diagnostic-mimicker-of-gastrointestinal-stromal-tumor
#4
Soomin Ahn, Choon Sik Chung, Kyoung-Mee Kim
Gastrointestinal neurofibroma usually develops as diffuse gastrointestinal involvement in neurofibromatosis type 1 patients. Only 4 cases of sporadic colonic neurofibroma in a patient without neurofibromatosis type 1 have been reported in the English literature. A 26-year-old female patient underwent colonoscopy, and a 4-cm-sized polypoid mass was identified in the sigmoid colon. Wedge resection of the mass showed a yellowish, hard submucosal tumor. Microscopically, the tumor was composed of wavy spindle cells, fibroblasts, and strands of collagen; the stroma showed scattered myxoid areas...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27917325/case-report-a-rosette-forming-glioneuronal-tumor-in-the-tectal-plate-in-a-patient-with-neurofibromatosis-type-i
#5
Emily P Sieg, Russell Payne, Sara Langan, Charles S Specht
We report the case of a 41-year-old female with neurofibromatosis Type 1 (NF1) who developed a rosette-forming glioneuronal tumor (RGNT) in the tectal plate. This tumor was diagnosed in 2002 when the patient presented with obstructive hydrocephalus, which was subsequently treated with a ventriculoperitoneal shunt and then an endoscopic third ventriculostomy. Initially thought to be a pilocytic astrocytoma, it was followed with serial magnetic resonance imaging (MRI) until tumor progression and development of a large fourth ventricular cystic component prompted resection via suboccipital craniotomy...
November 1, 2016: Curēus
https://www.readbyqxmd.com/read/27913619/the-caenorhabditis-elegans-nf2-merlin-molecule-nfm-1-non-autonomously-regulates-neuroblast-migration-and-interacts-genetically-with-the-guidance-cue-slt-1-slit
#6
Matthew P Josephson, Rana Aliani, Megan L Norris, Matthew E Ochs, Mahekta Gujar, Erik A Lundquist
During nervous system development, neurons and their progenitors migrate to their final destinations. In Caenorhabditis elegans, the bilateral Q neuroblasts and their descendants migrate long distances in opposite directions, despite being born in the same posterior region. QR on the right migrates anteriorly and generates the AQR neuron positioned near the head, and QL on the left migrates posteriorly, giving rise to the PQR neuron positioned near the tail. In a screen for genes required for AQR and PQR migration, we identified an allele of nfm-1, which encodes a molecule similar to vertebrate NF2/Merlin, an important tumor suppressor in humans...
December 2, 2016: Genetics
https://www.readbyqxmd.com/read/27913534/myelodysplastic-and-myeloproliferative-disorders-of-childhood
#7
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913089/a-combined-one-stage-surgical-approach-of-orbital-tumor-debulking-lid-reconstruction-and-ptosis-repair-in-children-with-orbitotemporal-neurofibromatosis
#8
Shay Keren, Gad Dotan, Ran Ben-Cnaan, Leah Leibovitch, Igal Leibovitch
BACKGROUND AND AIM: To describe a series of children with neurofibromatosis type 1 (NF1) and a plexiform neurofibroma of the orbit with ptosis who underwent a combined one-stage surgery for tumor debulking, lid reconstruction, and ptosis repair. METHODS: A retrospective review of 6 cases of combined one-step surgeries for orbital plexiform neurofibroma with ptosis. RESULTS: The study included 6 children (4 boys, mean age 3.4 years). Follow-up time was at least 9 months...
November 11, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#9
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27908211/pheochromocytoma-in-neurofibromatosis-type-1-during-pregnancy
#10
Pablo Remón-Ruiz, Alberto Aliaga-Verdugo, Raquel Guerrero-Vázquez
Pregnant women with neurofibromatosis type 1 (NF-1) have increased complications during gestation, including hypertensive disorders that are sometimes caused by pheochromocytoma. Pheochromocytoma is an extremely rare condition during pregnancy, and the main clinical manifestation is hypertension. If not properly treated, pheochromocytoma has high maternal and fetal mortality rates. Early recognition and adequate clinical management before delivery have led to better outcomes in the last few decades. Despite the association of NF-1 and pheochromocytoma, there are few clinical reports of these two conditions in pregnant patients...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27904856/primary-hepatic-malignant-peripheral-nerve-sheath-tumor-successfully-treated-with-combination-therapy-a-case-report-and-literature-review
#11
Hae Il Jung, Hyoung Uk Lee, Tae Sung Ahn, Jong Eun Lee, Hyun Yong Lee, Hyon Doek Cho, Sang Cheol Lee, Sang Ho Bae
Primary malignant peripheral nerve sheath tumor (MPNST) in a young female patient, not associated with neurofibromatosis type-I is extremely rare in the liver. A 33-year-old female was admitted with a right flank pain for a weak. The CT scan showed 12.5-cm-sized mass located at the right hepatic lobe. At laparotomy, about 20.0-cm-sized mass was on the right hepatic lobe with attachment to right diaphragmatic pleura. Right hepatic lobe and adherent part of diaphragmatic pleura were resected. On histology and immunohistochemistry, it was diagnosed MPNST...
December 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27900643/first-use-of-patient-reported-outcomes-measurement-information-system-promis-measures-in-adults-with-neurofibromatosis
#12
Mojtaba Talaei-Khoei, Eric Riklin, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
The patient reported outcomes measurement information system (PROMIS) provides clinicians and researchers access to reliable, validated measures of physical, mental, and social well-being. The use of PROMIS can facilitate comparisons among clinical subpopulations and with the U.S. general population. We report on the first study using PROMIS measures in patients with neurofibromatosis (NF). Eighty-six adult patients (mean age = 44; 55% female; 87% white; 50% NF1, 41% NF2 and 9% schwannomatosis) completed a battery of PROMIS computerized adaptive tests (CATs)...
November 29, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27900489/an-association-of-peripheral-nerve-sheath-tumors-and-lipomas
#13
Mohamed A Elsherif, Dusica Babovic-Vuksanovic, Robert J Spinner
BACKGROUND: We noticed the coexistence of peripheral nerve sheath tumors (PNST) with lipomas within a subgroup of our patients. Given the prevalence of lipomas in the general population, we sought to investigate the extent of coexistence of the two entities aiming at uncovering any plausible association between both. METHODS: A retrospective review of all peripheral nerve sheath tumors (sporadic and syndromic forms) treated by a single surgeon between January 2009 and August 2015 was done...
November 30, 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27900010/a-novel-mutation-of-the-fat2-gene-in-spinal-meningioma
#14
Genshu Tate, Koji Kishimoto, Toshiyuki Mitsuya
Meningiomas may be classified as neurofibromin 2 (NF2)-associated and non-NF2 meningiomas depending on the presence or absence of molecular alterations in the NF2 gene. One of the characteristic histological features of meningiomas is the whorl formation of neoplastic arachnoid cells. NF2 is a human homolog of the Drosophila gene, Merlin (Mer). In humans, NF2 is the gene responsible for the disease neurofibromatosis type II, which results in the development of brain tumors, including acoustic neurinoma and meningioma...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27898639/hemidystonia-in-a-child-with-neurofibromatosis-type-1
#15
Ayşe Kartal
No abstract text is available yet for this article.
December 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27895862/cutaneous-angiosarcoma-metastatic-to-small-bowel-with-nodal-involvement
#16
Vidya A Fleetwood, Jamie C Harris, Minh B Luu
A 77-year-old male with a history of metastatic scalp angiosarcoma presented with intractable gastrointestinal bleeding from a jejunal mass detected on capsule endoscopy. He underwent laparoscopic-assisted resection of the mass. Intraoperatively, an isolated small bowel mass with bulky lymphadenopathy was seen and resected en bloc. Pathology showed a 6.8cm high-grade metastatic angiosarcoma with nodal involvement and negative margins. Angiosarcoma is a sarcoma with a grim prognosis. The incidence is 2% of all soft tissue sarcomas; cutaneous lesions comprise 27% of manifestations and usually appear on head and neck...
2016: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/27893452/confounding-of-the-association-between-radiation-exposure-from-ct-scans-and-risk-of-leukemia-and-brain-tumors-by-cancer-susceptibility-syndromes
#17
Johanna M Meulepas, Cécile M Ronckers, Johannes Merks, Michel E Weijerman, Jay H Lubin, Michael Hauptmann
Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients...
November 28, 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27889578/molecular-neurobiology-of-mtor
#18
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that controls several important aspects of mammalian cell function. mTOR activity is modulated by various intra- and extracellular factors; in turn, mTOR changes rates of translation, transcription, protein degradation, cell signaling, metabolism, and cytoskeleton dynamics. mTOR has been repeatedly shown to participate in neuronal development and the proper functioning of mature neurons. Changes in mTOR activity are often observed in nervous system diseases, including genetic diseases (e...
November 23, 2016: Neuroscience
https://www.readbyqxmd.com/read/27876659/surgical-treatment-for-patients-with-moyamoya-syndrome-and-type-1-neurofibromatosis
#19
Jose L Porras, Wuyang Yang, Tomas Garzon-Muvdi, Risheng Xu, Jaishri Blakeley, Allan Belzberg, Justin M Caplan, Syed Khalid, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Edward S Ahn, Judy Huang
INTRODUCTION: The current study describes the impact of surgery in preventing follow-up ipsilateral TIAs/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). METHODS: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected, and compared between a revascularization group (group1) and a conservatively managed group (group2) on a per-hemisphere basis...
November 19, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27875628/clinical-genomic-profiling-identifies-tyk2-mutation-and-overexpression-in-patients-with-neurofibromatosis-type-1-associated-malignant-peripheral-nerve-sheath-tumors
#20
Angela C Hirbe, Madhurima Kaushal, Mukesh Kumar Sharma, Sonika Dahiya, Melike Pekmezci, Arie Perry, David H Gutmann
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise at an estimated frequency of 8% to 13% in individuals with neurofibromatosis type 1 (NF1). Compared with their sporadic counterparts, NF1-associated MPNSTs (NF1-MPNSTs) develop in young adults, frequently recur (approximately 50% of cases), and carry a dismal prognosis. As such, most individuals affected with NF1-MPNSTs die within 5 years of diagnosis, despite surgical resection combined with radiotherapy and chemotherapy...
November 22, 2016: Cancer
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