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ArtikelEvidence of MEN-2 in the Original Description of Classic Pheochromocytoma  
Oleh: Neumann, Hartmut P.H. ; Vortmeyer, Alexander ; Schmidt, Dieter ; Werner, Martin ; Erlic, Zoran ; Cascon, Alberto ; Bausch, Birke ; Januszewicz, Andrzej ; Eng, Charis
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 357 no. 13 (Sep. 2007), page 1311.
  • Perpustakaan FK
    • Nomor Panggil: N08.K.2007.05
    • Non-tandon: 1 (dapat dipinjam: 0)
    • Tandon: tidak ada
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Isi artikelThe first description of pheochromocytoma in 1886 has been attributed to Felix Fränkel, who described an 18-year-old woman with bilateral adrenal "sarcoma and angio-sarcoma." We reviewed the publication and then approached and assessed relatives of the patient to update the findings with the use of current technology. In-depth review revealed that the histopathological findings were consistent with pheochromocytoma. Because the proband was young and had bilateral disease at diagnosis, we hypothesized that she had an inherited condition. The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma.
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