GIST associated with von recklinghausen disease : Report of two cases and review of literature
© 2021 The Authors..
INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 (NF1), or Von Recklinghausen's disease, is an autosomal dominant condition that affects the central nervous system. Gastrointestinal stromal tumor (GIST) refers to non-epithelial tumors of the gastrointestinal tract lacking smooth muscle structural features and schwann cell immunohistochemical characteristics. The risk of patients with NF1 to develop a GIST is 7%.
CASE PRESENTATION: GIST is a soft tissue sarcoma that probably arises from the interstitial Cajal cells of the intestine. GIST associated with NF1 syndrome appears to have a distinct phenotype, occurring in younger patients compared to sporadic GIST.
CLINICAL DISCUSSION: The clinical presentation can be highly variable, the association of gastrointestinal tumors associated with Von Recklinghausen's disease is up to 7%, postoperative treatment with imatinib is reserved for patients with a high risk of recurrence.
CONCLUSION: The treatment of primary GIST is complete surgical resection with free microscopic margins and an intact pseudocapsule.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:62 |
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| Enthalten in: |
Annals of medicine and surgery (2012) - 62(2021) vom: 26. Feb., Seite 365-368 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Vargas Ávila, Arcenio Luis [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Revised 30.03.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1016/j.amsu.2021.01.033 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM321130189 |
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| 100 | 1 | |a Vargas Ávila, Arcenio Luis |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a GIST associated with von recklinghausen disease |b Report of two cases and review of literature |
| 264 | 1 | |c 2021 | |
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| 500 | |a Date Revised 30.03.2024 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2021 The Authors. | ||
| 520 | |a INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 (NF1), or Von Recklinghausen's disease, is an autosomal dominant condition that affects the central nervous system. Gastrointestinal stromal tumor (GIST) refers to non-epithelial tumors of the gastrointestinal tract lacking smooth muscle structural features and schwann cell immunohistochemical characteristics. The risk of patients with NF1 to develop a GIST is 7% | ||
| 520 | |a CASE PRESENTATION: GIST is a soft tissue sarcoma that probably arises from the interstitial Cajal cells of the intestine. GIST associated with NF1 syndrome appears to have a distinct phenotype, occurring in younger patients compared to sporadic GIST | ||
| 520 | |a CLINICAL DISCUSSION: The clinical presentation can be highly variable, the association of gastrointestinal tumors associated with Von Recklinghausen's disease is up to 7%, postoperative treatment with imatinib is reserved for patients with a high risk of recurrence | ||
| 520 | |a CONCLUSION: The treatment of primary GIST is complete surgical resection with free microscopic margins and an intact pseudocapsule | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Gastrointestinal stromal tumor | |
| 650 | 4 | |a Type 1 neurofibromatosis. K-Ras | |
| 700 | 1 | |a Jiménez Leyva, Amador |e verfasserin |4 aut | |
| 700 | 1 | |a Vargas Flores, Julián |e verfasserin |4 aut | |
| 700 | 1 | |a Reyes Garcia, Victor Gibran |e verfasserin |4 aut | |
| 700 | 1 | |a de Alba Cruz, Israel |e verfasserin |4 aut | |
| 700 | 1 | |a Narváez González, Hugo Fernando |e verfasserin |4 aut | |
| 700 | 1 | |a Galicia Gómez, Teresa de Jesús |e verfasserin |4 aut | |
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