Germinoma of the Pineal Its Identity with Gcrminoma ( Scminoma") of the Testis
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Germline and Mosaic Mutations Causing Pituitary Tumours: Genetic and Molecular Aspects
240 2 Journal of S Pepe et al. Germline and mosaic 240:2 R21–R45 Endocrinology mutations in pituitary tumours REVIEW Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects Sara Pepe1,2, Márta Korbonits1 and Donato Iacovazzo1 1Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK 2Department of Medical Biotechnologies, University of Siena, Siena, Italy Correspondence should be addressed to M Korbonits: [email protected] Abstract While 95% of pituitary adenomas arise sporadically without a known inheritable Key Words predisposing mutation, in about 5% of the cases they can arise in a familial setting, either f genetics isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is f pituitary caused, in 15–30% of all kindreds, by inactivating mutations in the AIP gene, encoding f pituitary adenoma a co-chaperone with a vast array of interacting partners and causing most commonly f mutation growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, including the cAMP-dependent protein kinase A pathway via defective G inhibitory protein signalling or altered interaction with phosphodiesterases. The cAMP pathway is also affected by other conditions predisposing to pituitary tumours, including X-linked acrogigantism caused by duplications of the GPR101 gene, encoding an orphan G stimulatory protein- coupled receptor. Activating mosaic mutations in the GNAS gene, coding for the Gα stimulatory protein, cause McCune–Albright syndrome, while inactivating mutations in the regulatory type 1α subunit of protein kinase A represent the most frequent genetic cause of Carney complex, a syndromic condition with multi-organ manifestations also involving the pituitary gland. -
Pineal Region Tumors: Computed Tomographic-Pathologic Spectrum
415 Pineal Region Tumors: Computed Tomographic-Pathologic Spectrum Nancy N. Futrell' While several computed tomographic (CT) studies of posterior third ventricular Anne G. Osborn' neoplasms have included descriptions of pineal tumors, few reports have concentrated Bruce D. Cheson 2 on these uncommon lesions. Some authors have asserted that the CT appearance of many pineal tumors is virtually pathognomonic. A series of nine biopsy-proved pineal gland and eight other presumed tumors is presented that illustrates their remarkable heterogeneity in both histopathologic and CT appearance. These tumors included germinomas, teratocarcinomas, hamartomas, and other varieties. They had variable margination, attenuation, calcification, and suprasellar extension. Germinomas have the best response to radiation therapy. Biopsy of pineal region tumors is now feasible and is recommended for treatment planning. Tumors of the pineal region account for less th an 2% of all intracrani al neoplasms [1]. While several reports of computed tomography (CT) of third ventricular neoplasms have in cluded an occasi onal pineal tumor [2 , 3], few have focused on the radiographic spectrum of th ese uncommon lesions [4]. Some authors have asserted that the CT appearance of many pineal tumors is virtuall y pathognomonic [5]. We studied a series of nine biopsy-proven pineal gland tumors that demonstrated remarkable heterogeneity in both histopath ologic and CT appearance. Materials and Methods A total of 17 pineal gland tumors were detected in 15,000 consecutive CT scans. Four patients were female and 13 were male. Mean age for the fe males was 27 years; for the males, 15 years. Initial symptoms ranged from headache, nausea, and vomiting, to Parinaud syndrome, vi sual field defects, diabetes insipidus, and hypopituitari sm (table 1). -
Pearls and Forget-Me-Nots in the Management of Retinoblastoma
POSTERIOR SEGMENT ONCOLOGY FEATURE STORY Pearls and Forget-Me-Nots in the Management of Retinoblastoma Retinoblastoma represents approximately 4% of all pediatric malignancies and is the most common intraocular malignancy in children. BY CAROL L. SHIELDS, MD he management of retinoblastoma has gradu- ular malignancy in children.1-3 It is estimated that 250 to ally evolved over the years from enucleation to 300 new cases of retinoblastoma are diagnosed in the radiotherapy to current techniques of United States each year, and 5,000 cases are found world- chemotherapy. Eyes with massive retinoblas- Ttoma filling the globe are still managed with enucleation, TABLE 1. INTERNATIONAL CLASSIFICATION OF whereas those with small, medium, or even large tumors RETINOBLASTOMA (ICRB) can be managed with chemoreduction followed by Group Quick Reference Specific Features tumor consolidation with thermotherapy or cryotherapy. A Small tumor Rb <3 mm* Despite multiple or large tumors, visual acuity can reach B Larger tumor Rb >3 mm* or ≥20/40 in many cases, particularly in eyes with extrafoveal retinopathy, and facial deformities that have Macula Macular Rb location been found following external beam radiotherapy are not (<3 mm to foveola) anticipated following chemoreduction. Recurrence from Juxtapapillary Juxtapapillary Rb location subretinal and vitreous seeds can be problematic. Long- (<1.5 mm to disc) term follow-up for second cancers is advised. Subretinal fluid Rb with subretinal fluid Most of us can only remember a few interesting points C Focal seeds Rb with: from a lecture, even if was delivered by an outstanding, Subretinal seeds <3 mm from Rb colorful speaker. Likewise, we generally retain only a small and/or percentage of the information that we read, even if writ- Vitreous seeds <3 mm ten by the most descriptive or lucent author. -
Points of Consideration in Diagnosis of Brain Tumors
University of Nebraska Medical Center DigitalCommons@UNMC MD Theses Special Collections 5-1-1934 Points of consideration in diagnosis of brain tumors Robert J. Stein University of Nebraska Medical Center This manuscript is historical in nature and may not reflect current medical research and practice. Search PubMed for current research. Follow this and additional works at: https://digitalcommons.unmc.edu/mdtheses Part of the Medical Education Commons Recommended Citation Stein, Robert J., "Points of consideration in diagnosis of brain tumors" (1934). MD Theses. 356. https://digitalcommons.unmc.edu/mdtheses/356 This Thesis is brought to you for free and open access by the Special Collections at DigitalCommons@UNMC. It has been accepted for inclusion in MD Theses by an authorized administrator of DigitalCommons@UNMC. For more information, please contact [email protected]. POINTS OF CONSIDERATION IN DIAGNOSIS OF BRAIN TUMORS by Robert J. Stein University of Nebraska College of Medicine Omaha Page I. Introduction ••.••••••••••.••.••••••••••••••••••••••• 1. II. Histogenes is of the Brain ••••••••••••.•••••••••••••• I. III.Classification of Intracranial Tumors............ 11. IV. Outllne of Methods of Examination ••••••••••••••••••• 31. V. General Symutoms and Signs of Increased Intra- cran~al Pressure ••. ••• .••••••••••••••••••••• • • • :J •••• 36. VI. Focal Signs and Symptoms of Brain Tumor ••••••••••••• 45. Cerebral Tumors ••••••••••, •••••••••••••••••••••••••• 47. Tumors of Cerebellum, Pons and Medulla ••••••••••• •• 57. Tumors of the Pi tui tary Body ••••••••••••••••.•••• .'. 61. VI I. Summary. • • • • • • . • • • • • . • • • • • . • • • . • • • • • • • • . • . • • • • • • • •• 65. Bibliogranhy •••••••••••••••••••••••••• • • • • • • • • • • • • • 69. 1. I. INTRODUCTION The progress of the surgery of intracranial tumors has been asso ciated intimately wi th the advenae ment of asepsis and surgical technique in genera.l i methods of more accurate diagnosis and a correlation of the pathology of tumors encountered with the clini cal course of the patient. -
A Glioma in a Dog and a Pinealoma in a Silver Fox (Vulpes Fulvus)
A GLIOMA IN A DOG AND A PINEALOMA IN A SILVER FOX (VULPES FULVUS) CARL F. SCHLOTTHAUER, D.V.M., Division of E.aperinienta1 Medicine, The Mauo Foundation JAMES W. KERNOHAN, M.D., Section on Pathologic Anatomy, The Mayo Clinic, Rochester, Minnesota Only a small number of primary intracranial neoplasms have been observed in mammals and birds. Either they do not occur as fre- quently in lower animals as they do in man or they are overlooked. The latter is a probable explanation, as only a small number of animals that die of natural causes come to necropsy and because of the dif- ficulty of opening the cranium with inadequate equipment this part of the examination generally is omitted. Slye, Holmes and Wells, in 1931, reviewed the literature 011 intrn- cranial and cord tumors of lower animals and found only 36 cases re- ported. Twenty-six of these were intracraiiial tumors, 11 of which were in the hypophysis. They at that time reported 4 new cases of primary intracranial neoplasms, 3 occurring in mice of the Slye stock and one in a green parrakeet (Agatomis puEZuriu). The neoplasms found in tlie mice were : an endothelioma of a cerebral peduncle, a papil- lomatous growth in the ependyma of the lateral ventricle, and an in- filtrating adenoma of the hypophysis. The tumor observed in the parrakeet was an adeiioma in tlie hypophysis. Iii their summary thew writers mention that it is especially noteworthy that only one seemingly conclusive report of a cerebral glioma in an animal could be found. Dawes, in 1930, reported two intracrunial neoplasms in dogs. -
Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with BRAFV600E Mutation
ORI GI NAL AR TIC LE DO I: 10.4274/jcrpe.3873 J Clin Res Pediatr Endocrinol 2017;9(3):185-193 Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with BRAFV600E Mutation Şükran Poyrazoğlu1, Rüveyde Bundak1, Firdevs Baş1, Gülçin Yeğen2, Yasemin Şanlı3, Feyza Darendeliler1 1İstanbul University İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey 2İstanbul University İstanbul Faculty of Medicine, Department of Pathology, İstanbul, Turkey 3İstanbul University İstanbul Faculty of Medicine, Department of Nuclear Medicine, İstanbul, Turkey What is already known on this topic? Papillary thyroid cancer (PTC) is more disseminated in prepubertal children. Recurrence rate was reported to be higher in the prepubertal group. What this study adds? BRAFV600E mutation is not correlated with a more extensive or aggressive disease in pediatric PTC patients. Frequency of BRAFV600E mutation is similar between prepubertal and pubertal children with PTC. Abstract Objective: Papillary thyroid cancer (PTC) may behave differently in prepubertal children as compared to pubertal children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate the clinicopathological characteristics of PTC patients with emphasis on the pubertal status and also to investigate the association of BRAFV600E mutation with disease characteristics. Methods: The medical records of 75 patients with PTC were reviewed retrospectively. BRAFV600E mutation status was available only in the medical records of 56 patients. Results: Mean age at diagnosis was 12.4±3.8 years. There was no difference in sex, initial signs, tumor histopathology, and pathological evidence of tumor aggressiveness between prepubertal and pubertal children. -
New Jersey State Cancer Registry List of Reportable Diseases and Conditions Effective Date March 10, 2011; Revised March 2019
New Jersey State Cancer Registry List of reportable diseases and conditions Effective date March 10, 2011; Revised March 2019 General Rules for Reportability (a) If a diagnosis includes any of the following words, every New Jersey health care facility, physician, dentist, other health care provider or independent clinical laboratory shall report the case to the Department in accordance with the provisions of N.J.A.C. 8:57A. Cancer; Carcinoma; Adenocarcinoma; Carcinoid tumor; Leukemia; Lymphoma; Malignant; and/or Sarcoma (b) Every New Jersey health care facility, physician, dentist, other health care provider or independent clinical laboratory shall report any case having a diagnosis listed at (g) below and which contains any of the following terms in the final diagnosis to the Department in accordance with the provisions of N.J.A.C. 8:57A. Apparent(ly); Appears; Compatible/Compatible with; Consistent with; Favors; Malignant appearing; Most likely; Presumed; Probable; Suspect(ed); Suspicious (for); and/or Typical (of) (c) Basal cell carcinomas and squamous cell carcinomas of the skin are NOT reportable, except when they are diagnosed in the labia, clitoris, vulva, prepuce, penis or scrotum. (d) Carcinoma in situ of the cervix and/or cervical squamous intraepithelial neoplasia III (CIN III) are NOT reportable. (e) Insofar as soft tissue tumors can arise in almost any body site, the primary site of the soft tissue tumor shall also be examined for any questionable neoplasm. NJSCR REPORTABILITY LIST – 2019 1 (f) If any uncertainty regarding the reporting of a particular case exists, the health care facility, physician, dentist, other health care provider or independent clinical laboratory shall contact the Department for guidance at (609) 633‐0500 or view information on the following website http://www.nj.gov/health/ces/njscr.shtml. -
Fact Sheet on Pineoblastoma
Cancer Association of South Africa (CANSA) Fact Sheet on Pineoblastoma Introduction Pineoblastoma (also pinealoblastoma) is a malignant tumour of the pineal gland. Pineoblastoma may occur in patients with hereditary uni- or bilateral retinoblastoma. When retinoblastoma patients present with pineoblastoma this is characterised as ‘trilateral retinoblastoma’. [Picture Credit: Pineoblastoma] Pineal Tumours These tumours originate from normal cells in the pineal gland. The pineal gland is located in the centre of the brain and is involved in the secretion of specific hormones. [Picture Credit: Pineal Gland] Tumour types occurring in the pineal region may or may not involve the pineal gland. Tumours that may occur in this region but are not necessarily pineal tumours include: germinoma, non-germinoma (e.g., teratoma, endodermal sinus tumour, embryonal cell tumour, choriocarcinoma, and mixed tumours), meningioma, astrocytoma, ganglioglioma, and dermoid cysts. There are three types of pineal tumours: • Pineocytoma: Slow-growing, grade II tumour. • Pineoblastoma: More aggressive, grade IV, malignant tumour. A grade III intermediate form has also been described. • Mixed Pineal Tumour: Contains a combination of cell types. Researched and Authored by Prof Michael C Herbst [D Litt et Phil (Health Studies); D N Ed; M Art et Scien; B A Cur; Dip Occupational Health; Dip Genetic Counselling; Diagnostic Radiographer; Dip Audiometry and Noise Measurement; Medical Ethicist] Approved by Ms Elize Joubert, Chief Executive Officer [BA Social Work (cum laude); MA Social Work] April 2021 Page 1 Pineoblastoma Pineoblastoma is one of several different types of tumours that arise in the area of the pineal gland, requiring different therapies. The exact diagnosis is critical for choosing the correct therapy. -
Presenting Psychiatric and Neurological Symptoms and Signs of Brain Tumors Before Diagnosis: a Systematic Review
Review Presenting Psychiatric and Neurological Symptoms and Signs of Brain Tumors before Diagnosis: A Systematic Review Fatima Ghandour 1,2, Alessio Squassina 1, Racha Karaky 3, Mona Diab-Assaf 2, Paola Fadda 1,4,5,6,* and Claudia Pisanu 1 1 Department of Biomedical Sciences, Division of Neuroscience and Clinical pharmacology, University of Ca- gliari, 09042 Monserrato, Italy; [email protected] (F.G.); [email protected] (A.S.); [email protected] (C.P.) 2 EDST, Pharmacology and Cancerology Laboratory, Faculty of Sciences, Lebanese University, Beirut 1500, Lebanon; [email protected] 3 Drug-Related Sciences department, Faculty of Pharmacy, Lebanese University, Hadath 1500, Lebanon; [email protected] 4 Centre of Excellence "Neurobiology of Addiction", University of Cagliari, 09042 Monserrato, Italy 5 CNR Institute of Neuroscience - Cagliari, National Research Council, 09042 Monserrato, Italy 6 National Institute of Neuroscience (INN), 10126 Turin, Italy * Correspondence: [email protected] Table S1. Characteristics of “pediatric group” case reports (age < 18 years) with initial psychiatric symptoms with or without generalized and/or neurological signs and symptoms. Ref. Age Gender Tumor type Tumor location Psychiatric symptoms (P.S) Neurological symptoms Time from P.S after symptoms to tumor treat- diagnosis ment [1] 5 F Diffuse intrinsic Pontine Personality changes Motor deficits 3 weeks N.S. pontine glioma [2] 3 M Pilocytic Astrocyto- Rostral medulla Paroxysmal crying, anxiety Nausea, vomiting, seizure 8 months ✓ -
Statistical Analysis Plan
Cover Page for Statistical Analysis Plan Sponsor name: Novo Nordisk A/S NCT number NCT03061214 Sponsor trial ID: NN9535-4114 Official title of study: SUSTAINTM CHINA - Efficacy and safety of semaglutide once-weekly versus sitagliptin once-daily as add-on to metformin in subjects with type 2 diabetes Document date: 22 August 2019 Semaglutide s.c (Ozempic®) Date: 22 August 2019 Novo Nordisk Trial ID: NN9535-4114 Version: 1.0 CONFIDENTIAL Clinical Trial Report Status: Final Appendix 16.1.9 16.1.9 Documentation of statistical methods List of contents Statistical analysis plan...................................................................................................................... /LQN Statistical documentation................................................................................................................... /LQN Redacted VWDWLVWLFDODQDO\VLVSODQ Includes redaction of personal identifiable information only. Statistical Analysis Plan Date: 28 May 2019 Novo Nordisk Trial ID: NN9535-4114 Version: 1.0 CONFIDENTIAL UTN:U1111-1149-0432 Status: Final EudraCT No.:NA Page: 1 of 30 Statistical Analysis Plan Trial ID: NN9535-4114 Efficacy and safety of semaglutide once-weekly versus sitagliptin once-daily as add-on to metformin in subjects with type 2 diabetes Author Biostatistics Semaglutide s.c. This confidential document is the property of Novo Nordisk. No unpublished information contained herein may be disclosed without prior written approval from Novo Nordisk. Access to this document must be restricted to relevant parties.This -
A Typical Neurofibromatosis Type 1 in Adult with Intracranial T2 Hyperintensities and Pinealoma: a Case Report
vv ISSN: 2455-5282 DOI: https://dx.doi.org/10.17352/gjmccr CLINICAL GROUP Received: 16 April, 2020 Case Report Accepted: 25 April, 2020 Published: 27 April, 2020 *Corresponding author: Yongan Sun, Associate A typical neurofi bromatosis Professor, Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District 100034, Beijing, China, Tel: +86 133 91705678; type 1 in adult with E-mail: ORCID: https://orcid.org/0000-0001-9119-5322 intracranial T2 Keywords: Neurofi bromatosis; T2 hyperintensities; Pinealoma; High-grade glioma; Clinical manifestation hyperintensities and https://www.peertechz.com pinealoma: A Case Report Siwei Chen, Haiqiang Jin, Jing Bai, Wei Zhang, Jingjing Luo, Yining Huang and Yongan Sun* Associate Professor, Department of Neurology, Peking University First Hospital, China Abstract Neurofi bromatosis type 1 (NF-1) is a common autosomal dominant inherited disorder. Aside from typical symptoms like pigmentary manifestation, patients with NF-1 can also have unspecifi ed T2 hyperintensities (T2Hs) on the brain and may develop benign or malignant tumours in central nervous system or other parts of the body. In this article, we reported a 54-year-old female diagnosed as NF-1 combined with T2Hs and pinealoma that was proved to be a high-grade glioma in later follow-up. We noticed some clinical manifestations such as pigmented teeth and dentition defects that had not been described before. There were some refl ections from the poor prognosis of this patient. Even though the course of the disease is relatively indolent most of the time, long-term surveillance is in need and treatment may be required in those with symptoms or unstable imaging fi ndings. -
Differential Diagnosis of Sellar Masses
~~ ~~ ~ ADVANCES IN PITUITARY TUMOR THERAPY 0889-8529/99 $8.00 + .OO DIFFERENTIAL DIAGNOSIS OF SELLAR MASSES Pamela U. Freda, MD, and Kalmon D. Post, MD Pituitary adenomas are the most common cause of a mass in the sella. In as many as 9% of cases, other etiologies are responsible for mass lesions in the sellar regions4,13' (Table 1). The differential diagnosis of nonpituitary sellar masses is broad and includes cell rest tumors, germ cell tumors, gliomas, menin- giomas, metastatic tumors, vascular lesions, and granulomatous, infectious, and inflammatory processes (Table 2). Differentiating among these potential etiolo- gies may not always be straightforward because many of these lesions, tumorous and nontumorous, may mimic the clinical, endocrinologic, and radiographic presentations of pituitary adenomas. In some cases, there are no features that clearly distinguish the unusual etiologies from the clinically nonfunctioning pituitary adenoma. In others, certain endocrine, neurologic, and radiographic findings that are more characteristic of patients with a nonpituitary sellar mass may be present and can help in their differentiation. Correct preoperative diag- nosis is clinically important because the treatment of choice for many of these nonpituitary sellar masses differs from that of a pituitary tumor. This article provides an overview of the clinical and radiographic characteristics of both pituitary tumors and the nonpituitary lesions found in the sellar/parasellar region and discusses in detail the specific nonpituitary etiologies of the sellar mass. SIGNS AND SYMPTOMS OF PITUITARY TUMORS Pituitary tumors vary in presentation. Clinical findings depend largely on whether the tumor is hormone secreting or clinically nonfunctioning, on the size and pattern of tumor growth, and on whether normal pituitary gland function is disrupted.