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A Novel Germline KIT Mutation (p.L576P) in a Family Presenting With Juvenile Onset of Multiple Gastrointestinal Stromal Tumors, Skin Hyperpigmentations, and Esophageal Stenosis.

Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes HG, Wardelmann E, Schildhaus HU, Tinschert S.Source*Institut für Klinische Genetik, Technische Universität Dresden, Dresden †Medizinisch Genetisches Zentrum, München ‡Tumorklinik, Klinikum Fulda ¶Klink für Allgemein- und Viszeralchirurgie, Fulda §Vivantes Humboldt-Klinikum, MVZ für Onkologie, Berlin ∥Institute of Pathology, University Hospital Cologne, Cologne, Germany #Division für Humangenetik, Medizinische Universität Innsbruck, Austria.
The American journal of surgical pathology.Am J Surg Pathol.2013 Jun;37(6):898-905. doi: 10.1097/PAS.0b013e31827bc071.
Familial gastrointestinal stromal tumor (GIST) syndrome is a rare autosomal dominant genetic disorder. We report on a kindred in which 3 family members carry a germline mutation (c.1727T>C, p.L576P) in exon 11 of the KIT gene. This mutation was not reported so far in familial GISTs. Apart from mu
PMID 23598963

Cervical osteomyelitis after placement of a self-expanding plastic stent for palliation of dysphagia associated with chemoradiation-induced esophageal strictures.

Mullen TD, Sharma AK, Varma AK.SourceDepartment of Radiation Oncology, Medical University of South Carolina, Charleston, South Carolina.
Head & neck.Head Neck.2013 Jun;35(6):E197-201. doi: 10.1002/hed.22975. Epub 2012 Feb 24.
BACKGROUND: Esophageal strictures are a common sequela of chemoradiation and/or surgery to the head and neck cancers and can lead to stenosis and significant dysphagia. Endoscopic dilation endoscopic and placement of self-expanding stents are often to used relieve dysphagia symptoms. However, these
PMID 22367919

Escobar MA Jr, Pickens MK, Holland RM, Caty MG.SourceDepartment of Pediatric Surgical Services, Mary Bridge Children's Hospital & Health Center, Tacoma, Washington, USA.
BMJ case reports.BMJ Case Rep.2013 May 20;2013. pii: bcr2013009620. doi: 10.1136/bcr-2013-009620.
Congenital esophageal stenosis (CES) is associated with oesophageal atresia and tracheoesophageal fistula (EA-TEF). Tracheobronchial (cartilaginous) rests are typically found within the area of stenosis. The authors present a case report of EA-TEF associated with CES and present a modification of a
PMID 23696146

Endoscopic steroid injection reduced frequency of repeat dilation in patients with anastomotic stenosis after esophagectomy

Septic shock-related acute esophageal necrosis and stenosis : three cases of acquired esophageal stenosis presenting a similar clinical course

リンク元	「食道狭窄症」
拡張検索	「congenital esophageal stenosis」
関連記事	「esophageal」

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