Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis
Aim: To describe the case of metachronous gastrointestinal stromal tumors in a proband with familial adenomatous polyposis (FAP), carrier of APC gene mutation in codon 1309. Material and Methods: The physical examination, genealogical analysis and molecular genetic analysis of peripheral blood in 15...
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| Дата: | 2015 |
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| Автори: | , , , , |
| Формат: | Стаття |
| Мова: | English |
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Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України
2015
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| Назва видання: | Experimental Oncology |
| Теми: | |
| Онлайн доступ: | http://dspace.nbuv.gov.ua/handle/123456789/145537 |
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| Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Цитувати: | Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis / M.R. Lozynska, Y.O. Pospishil, O.Y. Varyvoda, A. Plawski, O.O. Pretsel // Experimental Oncology. — 2015. — Т. 37, № 3. — С. 227-230. — Бібліогр.: 30 назв. — англ. |
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irk-123456789-1455372019-01-23T01:24:01Z Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis Lozynska, M.R. Pospishil, Y.O. Varyvoda, O.Y. Plawski, A. Pretsel, O.O. Case report Aim: To describe the case of metachronous gastrointestinal stromal tumors in a proband with familial adenomatous polyposis (FAP), carrier of APC gene mutation in codon 1309. Material and Methods: The physical examination, genealogical analysis and molecular genetic analysis of peripheral blood in 15-years-old girl with FAP and her sister, were carried out. Macroscopic, standard histological and immunohistochemical study of surgical specimens — intraintestinal tumors of the small intestine in proband was performed. Results: Extraintestinal manifestations, including congenital abnormalities of facial skeleton, typical for Gardner’s syndrome, were observed in the sisters with FAP as the addition symptoms of the disease. Frameshift mutation in codon 1309 in the APC gene was detected in these patients. A rare neoplasia — metachronous gastrointestinal stromal tumor was found in proband 15 months after total colectomy for FAP. This is the third case described in the accessible medical literature. Conclusion: The possible role of APC gene mutation in the development of mesenchymal neoplasms is discussed. The study of stromal tumors is important for understanding of their pathogenesis that will enable to develop effective targeted therapy. Key Words: familial adenomatous polyposis, extraintestinal manifestations, APC gene mutations, gastrointestinal stromal tumors. 2015 Article Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis / M.R. Lozynska, Y.O. Pospishil, O.Y. Varyvoda, A. Plawski, O.O. Pretsel // Experimental Oncology. — 2015. — Т. 37, № 3. — С. 227-230. — Бібліогр.: 30 назв. — англ. 1812-9269 http://dspace.nbuv.gov.ua/handle/123456789/145537 en Experimental Oncology Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України |
| institution |
Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| collection |
DSpace DC |
| language |
English |
| topic |
Case report Case report |
| spellingShingle |
Case report Case report Lozynska, M.R. Pospishil, Y.O. Varyvoda, O.Y. Plawski, A. Pretsel, O.O. Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis Experimental Oncology |
| description |
Aim: To describe the case of metachronous gastrointestinal stromal tumors in a proband with familial adenomatous polyposis (FAP), carrier of APC gene mutation in codon 1309. Material and Methods: The physical examination, genealogical analysis and molecular genetic analysis of peripheral blood in 15-years-old girl with FAP and her sister, were carried out. Macroscopic, standard histological and immunohistochemical study of surgical specimens — intraintestinal tumors of the small intestine in proband was performed. Results: Extraintestinal manifestations, including congenital abnormalities of facial skeleton, typical for Gardner’s syndrome, were observed in the sisters with FAP as the addition symptoms of the disease. Frameshift mutation in codon 1309 in the APC gene was detected in these patients. A rare neoplasia — metachronous gastrointestinal stromal tumor was found in proband 15 months after total colectomy for FAP. This is the third case described in the accessible medical literature. Conclusion: The possible role of APC gene mutation in the development of mesenchymal neoplasms is discussed. The study of stromal tumors is important for understanding of their pathogenesis that will enable to develop effective targeted therapy. Key Words: familial adenomatous polyposis, extraintestinal manifestations, APC gene mutations, gastrointestinal stromal tumors. |
| format |
Article |
| author |
Lozynska, M.R. Pospishil, Y.O. Varyvoda, O.Y. Plawski, A. Pretsel, O.O. |
| author_facet |
Lozynska, M.R. Pospishil, Y.O. Varyvoda, O.Y. Plawski, A. Pretsel, O.O. |
| author_sort |
Lozynska, M.R. |
| title |
Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis |
| title_short |
Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis |
| title_full |
Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis |
| title_fullStr |
Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis |
| title_full_unstemmed |
Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis |
| title_sort |
rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis |
| publisher |
Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України |
| publishDate |
2015 |
| topic_facet |
Case report |
| url |
http://dspace.nbuv.gov.ua/handle/123456789/145537 |
| citation_txt |
Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis / M.R. Lozynska, Y.O. Pospishil, O.Y. Varyvoda, A. Plawski, O.O. Pretsel // Experimental Oncology. — 2015. — Т. 37, № 3. — С. 227-230. — Бібліогр.: 30 назв. — англ. |
| series |
Experimental Oncology |
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| first_indexed |
2023-05-20T17:22:27Z |
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2023-05-20T17:22:27Z |
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