Neurofibromatosis type 1 syndrome associated with gastrointestinal stromal tumor


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Abstract

Neurofibromatosis type 1 - NF1 (Recklinghausen's disease) is one of the most common hereditary tumor syndromes. The disease is caused by mutations in the NF1 gene, which is the tumor suppressor gene and the outcome of these mutations is the rapid uncontrolled growth of cells, as well as the high possibility of malignant tumors development, including gastrointestinal stromal tumors (GISTs). NF-1- associated GISTs are characterized by wild type for c-KIT and PDGFR-α mutations (WT-wild type) and as a rule have poor tyrosine kinase inhibitors treatment response, clinically occur asymptomatically, and characterize by low mitotic activity and better prognosis. The frequency of intraabdominal NF1 is 5-25%. Not more than 5% of all cases of intraabdominal NF1 have symptoms, which greatly affect the frequency of their determination. The most frequent clinical symptoms of the GISTs associated with NF1 are gastrointestinal bleeding and duodenal ileus. This article describes the clinical characteristics of GISTs in patient with NF1 who have been underwent gastro-pancreaticoduodenal resection, because of duodenal GISTs. The described case study confirms the high efficiency of surgical treatment and better prognosis in patients with duodenal GISTs associated with neuroendocrine tumor and NF1.

About the authors

O B Abukhaidar

N.N.Blokhin Russian Cancer Research Center

Email: abouhaidar@yandex.ru
аспирант хирургического отд-ния абдоминальной онкологии торакоабдоминального отдела ФГБНУ РОНЦ им Н.Н.Блохина 115478, Russian Federation, Moscow, Kashirskoe sh., d. 2

D A Filonenko

N.N.Blokhin Russian Cancer Research Center

канд. мед. наук, науч. сотр. отд-ния химиотерапии и комбинированного лечения злокачественных опухолей ФГБНУ РОНЦ им Н.Н.Блохина 115478, Russian Federation, Moscow, Kashirskoe sh., d. 2

P P Arkhiri

N.N.Blokhin Russian Cancer Research Center

канд. мед. наук, врач хирург отд-ния абдоминальной онкологии торакоабдоминального отдела ФГБНУ РОНЦ им Н.Н.Блохина 115478, Russian Federation, Moscow, Kashirskoe sh., d. 2

A A Meshcheriakov

N.N.Blokhin Russian Cancer Research Center

канд. мед. наук, вед. науч. сотр. отд-ния химиотерапии и комбинированного лечения злокачественных опухолей ФГБНУ РОНЦ им Н.Н.Блохина 115478, Russian Federation, Moscow, Kashirskoe sh., d. 2

S N Nered

N.N.Blokhin Russian Cancer Research Center

д-р мед. наук, вед. науч. сотр. отд-ния абдоминальной онкологии торакоабдоминального отдела ФГБНУ РОНЦ им Н.Н.Блохина 115478, Russian Federation, Moscow, Kashirskoe sh., d. 2

I S Stilidi

N.N.Blokhin Russian Cancer Research Center

д-р мед. наук, проф., чл.-кор. РАН, рук. отд-ния абдоминальной онкологии торакоабдоминального отдела ФГБНУ РОНЦ им Н.Н.Блохина 115478, Russian Federation, Moscow, Kashirskoe sh., d. 2

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