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Judit Bajor
Judit Bajor
Department of Internal Medicine and Gastroenterology, Hospital of Baranya County, Pécs, Hungary
Rákóczi u. 2, H-7623, Pécs, Hungary
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Rákóczi u. 2, H-7623, Pécs, Hungary
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Abstract
Type 1 neurofibromatosis, also known as von Recklinghausen's disease, is one of the most common diseases with autosomal dominant inheritance. The gene of neurofibromatosis, an NF1 tumour suppressor gene, is located on Chromosome 17. Due to the loss of tumour suppressor function, mutation of the gene leads to the development of benign and malignant tumours. Gastrointestinal manifestations, most often gastrointestinal stromal tumour (GIST), are found in 25% of cases. The close association of the two diseases is well known in the literature, with more than 160 cases reported up to now. GIST develops in 7% of patients with neurofibromatosis, and the occurrence of NF1 among patients with GIST is 150 to 180 times more frequent than in the general population. GIST associated with neurofibromatosis is a separate entity, and unlike sporadic GIST it is usually multiple and it almost always develops in the small intestine. It manifests itself usually at a younger age, with a slight female dominance. Its histological characteristics include spindle cell type, the presence of skeinoid bodies, and frequent S100 positivity. Its low mitotic activity usually suggests a more favourable prognosis. C-KIT and PDGFRA mutations characteristic of sporadic GIST occur very rarely, in accordance with the hypothesis that the pathogenesis of neurofibromatosis-associated GIST is not c-KIT dependent. Presumably the pathomechanism of GIST associated with neurofibromatosis is different from that of the sporadic form, and the occurrence of GIST tumour is a part of the clinical spectrum of neurofibromatosis. In the few known cases mutations of c-KIT and PDGFRA probably develop at a late step of tumour genesis. Imatinib that has revolutionized GIST therapy is not efficient in this group of patients; however there are no sufficient data available yet.
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[1]. S. Hirota K. Isozaki 2006 Pathology of gastrointestinal stromal tumors Pathol. Intern. 56 1–9.
-
[2]. M. Miettinen J. Lasota 2006 Gastrointestinal stromal tumors. Review on morphology, molecular pathology, prognosis, and differential diagnosis Arch. Pathol. Lab. Med. 130 1466–1478.
-
[3]. B. P. Rubin 2006 Gastrointestinal stromal tumours: an update Histopathology 48 83–96.
-
[4]. C. R. Antonescu 2006 Gastrointestinal stromal tumor (GIST) pathogenesis, familial GIST, and animal model Semin. Diagn. Pathol. 23 63–69.
-
[5]. J. Lasota M. Miettinen 2008 Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours Histopathology 53 245–266.
-
[6]. L. Tornillo L. M. Terracciano 2006 An update on molecular genetics of gastrointestinal stromal tumors J. Clin. Pathol. 59 557–563.
-
[7]. M. Miettinen J. Kopczynski H. Makhlouf et al.2003 Gastrointestinalis stromal tumors, intramural leiomyomas, and leiomyosarcomas in the duodenum. A clinicopathologic, immunohistochemical, and molecular genetic study of 167 cases Am. J. Surg. Pathol. 27 625–641.
-
[8]. M. Miettinen J. Lasota 2006 Gastrointestinal stromal tumors: pathology and prognosis at different sites Semin. Diagn. Pathol. 23 70–83.
-
[9]. J. Papp 2007 Gasztrointesztinális stroma tumor Eur J. Gastroenterol. Hepatol. 11 121–125 (Gastrointestinal stromal tumor).
-
[10]. Bajor, J., Beró, T.: GIST associated with other diseases. (In Hungarian) Gastro Update Edition, 2007.
-
[11]. J. Andersson H. Sihto J. M. Meis-Kindblom et al.2005 NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic and genotypic characteristics Am. J. Surg. Pathol. 29 1170–1176.
-
[12]. O. Maertens H. Prenen M. Debiec-Rychter et al.2006 Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients Hum. Mol. Genet. 15 1015–1023.
-
[13]. M. Miettinen J. F. Fetsch L. H. Sobin et al.2006 Gastrointestinal stromal tumors in patients with neurofibromatosis 1. A clinicopathologic and molecular genetic study of 45 cases Am. J. Surg. Pathol. 30 90–96.
-
[14]. Y. Takazawa S. Sakurai Y. Sakuma et al.2005 Gastrointestinal stromal tumors of Neurofibromatosis type 1 (von Recklinghausen's disease) Am. J. Surg. Pathol. 29 755–763.
-
[15]. M. E. T. Zöller B. Rembeck A. Odén et al.1997 Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population Cancer 79 2125–2130.
-
[16]. R. Bettini M. Falconi S. Crippa et al.2007 Ampullary somatostatinomas and jejunal gastrointestinal stromal tumor in patient with Von Recklinghausen's disease World J. Gastroenterol. 13 2763–2763.
-
[17]. K. Kinoshita S. Hirota K. Isozaki et al.2004 Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients J. Pathol. 202 80–85.
-
[18]. C. Mussi H. U. Schildhau A. Gronchi et al.2008 Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by Neurofibromatosis type 1 Clin. Cancer Res. 14 4550–4555.
-
[19]. H. Nemoto G. Tate A. Schirinzi et al.2006 Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor J. Gastroenterol. 41 378–382.
-
[20]. D. R. Stewart C. L. Corless B. P. Rubin et al.2007 Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1 J. Med. Genet. 44 e61.
-
[21]. R. K. Yantiss A. E. Rosenberg E. Sarran et al.2005 Multiple gastrointestinal stromal tumors in type 1 neurofibromatosis: a pathologic and molecular study Mod. Pathol. 18 475–484.
-
[22]. K. Kramer C. Hasel A. J. Aschoff et al.2007 Multiple gastrointestinal stromal tumors and bilateral pheocromocytoma in neurofibromatosis World J. Gastroenterol. 13 3384–3387.
-
[23]. J. Bajor M. Garamszegi E. Grexa et al.2002 Neurofibroma causing bile duct obstruction in a patient with Recklinghausen disease Orv. Hetil. 143 1947–1950.
-
[24]. K. Kramer M. Siech J. Strater et al.2005 GI haemorrhage with fulminant shock induced by jejunal gastrointestinal stromal tumor (GIST) coincident with duodenal neuroendocrine carcinoma (NET) + neurofibromatosis (NF) — case report and review of the literature Z. Gastroenterol. 43 281–288.
-
[25]. J. D. Schaldenbrand H. D. Appelman 1984 Solitary solid stromal gastrointestinal stromal tumors in von Recklinghausen's disease with minimal smooth muscle differentation Hum. Pathol. 15 229–232.
-
[26]. O. Kainuma T. Taniguchi et al.1996 Ampullary somatostatinoma in a patient with von Recklinghausen's disease J. Gastroenterol. 31 460–464.
-
[27]. J. Yang X. Du A. J. F. Lazar et al.2008 Genetic aberrations of gastrointestinal stromal tumors Cancer 113 1532–1543.
-
[28]. S. P. Cheng M. J. Huang T. L. Yang 2004 Neurofibromatosis with gastrointestinal stromal tumors: insights to the association Dig. Dis. Sci. 49 1165–1169.
-
[29]. O. Guillaud J. Dumortier P. P. Bringuier et al.2006 Multiple gastrointestinal stromal tumors (GIST) in a patient with type 1 neurofibromatosis revealed by chronic bleeding: per-operative radiologic diagnosis, Gastroenterol Clin. Biol. 30 320–324.
-
[30]. D. Y. Kang C. K. Park J. S. Choi et al.2007 Multiple gastrointestinal stromal tumors: clinicopathologic and genetic analysis of 12 patients Am. J. Surg. Pathol. 31 224–232.
-
[31]. J. L. Lee J. Y. Kim M. H. Ryu et al.2006 Response to imatinib in KIT-and PDGFRA-wild type gastrointestinal stromal associated with Neurofibromatosis type 1 Dig. Dis. Sci. 51 1043–1046.
-
[32]. J. Lasota M. Miettinen 2006 KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs) Semin. Diagn. Pathol. 23 91–102.
-
[33]. G. A. Poultsides W. A. I. Frederick 2006 Carcinoid of the ampulla of Vater: morphologic features and clinical implications World J. Gastroenterol. 12 7058–7060.
-
[34]. L. Simon J. Kiss H. Kovács 1995 Neurofibromatosis (von Recklinghausen disease) and carcinoid tumor in the papilla Vateri Orv. Hetil. 136 2287–2291.
-
[35]. M. Anlauf N. Garbrecht A. S. Bauersfeld et al.2007 Hereditary neuroendocrine tumors of the gastroenteropancreatic system Virch. Arch. 451 Suppl.1 S29–S38.
-
[36]. K. U. Juergens M. Weckesser O. Bettendorf et al.2006 Duodenal stomatostatinoma and gastrointestinal stromal tumor associated with Neurofibromatosis type 1: diagnosis with PET/CT Am. J. Roentgenol. 187 233–234.
-
[37]. G. Karatzas G. Kouraklis A. Karayiannakis et al.2000 Ampullary carcinoid and jejunal tumor associated with von Recklinghausen's disease presenting as gastrointestinal bleeding and jaundice Eur. J. Surg. Oncol. 26 428–429.
-
[38]. S. Suzuki K. Sato E. Katada et al.2004 Periampullary somatostatinoma and multiple gastrointestinal stromal tumors associated with von Recklinghausen's disease J. Gastroenterol. 39 1011–1016.
-
[39]. M. Usui S. Matsuda H. Suzuki et al.2002 Somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease J. Gastroenterol. 37 947–953.
-
[40]. K. A. Behranwala D. Spalding A. Wotherspoon et al.2004 Small bowel gastrointestinal stromal tumours and ampullary cancer in type 1 neurofibromatosis World J. Surg. Oncol. 2 1.
-
[41]. D. Lisewski S. Ryan E. M. Lim et al.2006 Concomitant composite adrenal pheocromocytoma, multiple gastric stromal tumours and pseudohermaphroditism in a patient with von Recklinghausen's disease Int. Semin. Surg. Oncol. 3 11–16.
-
[42]. S. Rizzo S. Bonomo A. Moser et al.2001 Bilateral pheocromocytoma associated with duodeno-jejunal GIST in patient with von Recklinghausen disease: report of a clinical case Chir. Ital. 53 243–246.
-
[43]. S. Teramoto T. Ota A. Maniva et al.2007 Two von Recklinghausen's disease cases with pheocromocytomas and gastrointestinal stromal tumors (GIST) in combination Int. J. Urol. 14 73–74.
-
[44]. M. E. Kalender A. Sevic E. Tutar et al.2007 Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report World J. Gastroenterol. 13 2629–2632.
-
[45]. S. H. Han S. H. Park G. H. Cho et al.2007 Malignant gastrointestinal stromal tumor in a patient with neurofibromatosis type 1 Korean J. Intern. Med. 22 21–23.
-
[46]. M.M. Schittenhelm S. Shigara A. Schroeder et al.2006 Dasatinib (BMS-354825), a dual SRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies Cancer Res. 66 473–481.
| Clinical and Experimental Medical Journal | |
|---|---|
| Language | English |
| Size | |
| Year of Foundation |
2007 |
| Publication Programme |
ceased |
| Volumes per Year |
|
| Issues per Year |
|
| Publisher | Akadémiai Kiadó |
| Publisher's Address |
H-1117 Budapest, Hungary 1516 Budapest, PO Box 245 |
| Responsible Publisher |
Chief Executive Officer, Akadémiai Kiadó |
| ISSN | 2060-6249 (Print) |
| ISSN | 2060-968X (Online) |
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