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Total 794 results found since Jan 2013.
A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer
We present a case of Gorlin-Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal skin by whole exome sequencing of cancer susceptibility genes. Setting a therapeutic strategy with regard to second cancer development is important for pediatric cancer patients who have a background of cancer pre...
Source: Journal of Pediatric Hematology Oncology - April 27, 2022 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
Development of a targeted gene panel for the diagnosis of Gorlin syndrome
In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. A custom panel was generated for four genes associated with Gorlin syndrome: PTCH1, PTCH2, SMO, and SUFU. Twenty-seven samples from 12 patients with Gorlin syndrome and three asymptomatic blood relatives of the patients were examined.
Source: International Journal of Oral and Maxillofacial Surgery - April 15, 2022 Category: ENT & OMF Authors: Y. Nakamura, S. Onodera, M. Takano, A. Katakura, T. Nomura, T. Azuma Tags: Research Paper Source Type: research
Meningothelial Hamartoma of the Scalp in a Child With Gorlin Syndrome
In this report, we describe the case of a 3-year-old boy with Gorlin syndrome who presented with a congenital scalp lesion. Histologic examination revealed scattered islands of meningothelial cells in a background of dense fibrous and vascular tissue, in keeping with meningothelial hamartoma of the scalp. The differential diagnoses of congenital scalp lesions and the association between Gorlin syndrome and meningothelial hamartoma of the scalp are discussed.
Source: The American Journal of Dermatopathology - March 24, 2022 Category: Pathology Tags: Extraordinary Case Report Source Type: research
Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes
AbstractThe initiative of the 5th edition of the WHO classification of the Head and Neck Tumours establishing a new section dedicated to familial/heritable tumor syndromes with tumors and lesions in the head and neck region was much needed to better understand the tumours, diseases, and associated syndromes, as well as establish recommendations for monitoring and treating these patients. (WHO Classification of Tumours Editorial Board. Head and Neck tumours. Lyon (France): International Agency for Research on Cancer; 2022.https://publications.iarc.fr/). Within the newly established chapter on genetic tumor syndromes, we hav...
Source: Head and Neck Pathology - March 21, 2022 Category: Pathology Source Type: research
Topical hedgehog inhibitors for basal cell carcinoma: how far away are we?
Expert Opin Pharmacother. 2022 Mar 8:1-2. doi: 10.1080/14656566.2022.2050215. Online ahead of print.ABSTRACTINTRODUCTION: The standard treatment of basal cell carcinoma (BCC) consists of conventional excision or Mohs micrographic surgery. However, surgical excision is not feasible in specific cases, particularly in patients with several BCCs such as those with Gorlin syndrome or individuals receiving immunosuppression after solid-organ transplantation. Additionally, the geriatric population may not be appropriate candidates for surgery. Thus, alternative therapies are needed for these populations.AREAS COVERED: Hedgehog (H...
Source: Expert Opinion on Pharmacotherapy - March 8, 2022 Category: Drugs & Pharmacology Authors: Harrison Zhu Daniel J Lewis Source Type: research
Dr. Jed Gorlin New Senior Editor of Transfusion and Apheresis Science
It is with great please we introduce you to Jed Gorlin the new Senior Dr. Editor, of Transfusion, Apheresis Science. As, shown by his biography, Dr., Gorlin has great expertise in the field, it is our pleasure to welcome him to the journal.
Source: Transfusion and Apheresis Science - February 16, 2022 Category: Hematology Authors: J. Gorlin Source Type: research
Dr. Jed Gorlin biography
It is with great please we introduce you to Jed Gorlin the new Senior Dr. Editor, of Transfusion, Apheresis Science. As, shown by his biography, Dr., Gorlin has great expertise in the field, it is our pleasure to welcome him to the journal.
Source: Transfusion and Apheresis Science - February 16, 2022 Category: Hematology Authors: J. Gorlin Source Type: research
Dr. Jed Gorlin boiography
It is with great please we introduce you to Jed Gorlin the new Senior Dr. Editor, of Transfusion, Apheresis Science. As, shown by his biography, Dr., Gorlin has great expertise in the field, it is our pleasure to welcome him to the journal.
Source: Transfusion and Apheresis Science - February 16, 2022 Category: Hematology Authors: J. Gorlin Source Type: research
Cost-Effectiveness of Long-Acting Injectable HIV Preexposure Prophylaxis in the United States : A Cost-Effectiveness Analysis
CONCLUSION: Effective oral PrEP limits the additional price society should be willing to pay for CAB-LA.PRIMARY FUNDING SOURCE: FHI 360; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Allergy and Infectious Diseases; National Heart, Lung, and Blood Institute; National Institute on Drug Abuse; the Reich HIV Scholar Award; and the Steve and Deborah Gorlin MGH Research Scholars Award.PMID:35099992 | DOI:10.7326/M21-1548
Source: Annals of Internal Medicine - January 31, 2022 Category: Internal Medicine Authors: Anne M Neilan Raphael J Landovitz Mylinh H Le Beatriz Grinsztejn Kenneth A Freedberg Marybeth McCauley Nattanicha Wattananimitgul Myron S Cohen Andrea L Ciaranello Meredith E Clement Krishna P Reddy Emily P Hyle A David Paltiel Rochelle P Walensky Source Type: research
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
Source: Application of Clinical Genetics - January 5, 2022 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Cancer Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan
Oncology. 2021 Dec 27. doi: 10.1159/000521621. Online ahead of print.ABSTRACTBrain tumors affect one-third of all children with cancer. Approximately 10% of children with cancer carry variants in cancer predisposition genes. However, germline analyses in large cohorts of Asian children have not been reported. Thirty-eight Japanese patients with pediatric brain tumors were included in this study (19 boys, 19 girls). DNA was extracted from the patients' peripheral blood, and cancer-associated genes were analyzed using targeted resequencing. Rare variants with allele frequencies <0.1% in the general population and variants...
Source: Oncology - December 27, 2021 Category: Cancer & Oncology Authors: Hiroko Fukushima Ryoko Suzuki Yuni Yamaki Sho Hosaka Masako Inaba Ai Muroi Takao Tsurubuchi Wataru Morii Emiko Noguchi Hidetoshi Takada Source Type: research
How to manage patients with Gorlin syndrome
Br J Dermatol. 2021 Nov 22. doi: 10.1111/bjd.20839. Online ahead of print.NO ABSTRACTPMID:34806167 | DOI:10.1111/bjd.20839
Source: The British Journal of Dermatology - November 22, 2021 Category: Dermatology Authors: Ervin Epstein Source Type: research
