Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome
Introduction and purpose Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder characterized by a significantly increased risk of developing various malignancies, including ovarian cancer. This study aims to analyse the ri...
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| Format: | Article |
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Kazimierz Wielki University
2025-01-01
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| Series: | Journal of Education, Health and Sport |
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| Online Access: | https://apcz.umk.pl/JEHS/article/view/56840 |
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| author | Agnieszka Protasiuk Agata Żak Rafał Sierzpowski Patrycja Tymoszuk Bartosz Kasperek Katarzyna Augustowska |
| author_facet | Agnieszka Protasiuk Agata Żak Rafał Sierzpowski Patrycja Tymoszuk Bartosz Kasperek Katarzyna Augustowska |
| author_sort | Agnieszka Protasiuk |
| collection | DOAJ |
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Introduction and purpose
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder characterized by a significantly increased risk of developing various malignancies, including ovarian cancer. This study aims to analyse the risk of ovarian cancer development in patients with Lynch syndrome and to compare the diagnostic and therapeutic approaches for this neoplasm in the context of sporadic cases.
Description
This discussion explores the genetic mechanisms underlying mutations in mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, and PMS2, which are essential for maintaining genomic stability. The diagnostic criteria, including the Amsterdam Criteria and the Bethesda Guidelines, are reviewed. The paper highlights the diagnostic challenges posed by the nonspecific symptoms of ovarian cancer and emphasizes the importance of early detection and monitoring.
A comprehensive review of treatment modalities is also provided, covering surgical cytoreduction, chemotherapy, and emerging therapies, such as immunotherapy and cancer vaccines. The importance of interdisciplinary care for patients is underscored, along with the need for preventive measures and health education to manage cancer risk.
Summary
Despite the challenges associated with diagnosis and treatment, the prognosis for patients with ovarian cancer linked to Lynch syndrome is generally more favourable than for those with sporadic cancers. This can be attributed to earlier diagnosis and the favourable histopathological characteristics of tumours associated with Lynch syndrome.
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| format | Article |
| id | doaj-art-95511e02a8c84fee92fd9a79322a119b |
| institution | Kabale University |
| issn | 2391-8306 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj-art-95511e02a8c84fee92fd9a79322a119b2025-01-04T08:16:29ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062025-01-017710.12775/JEHS.2025.77.56840Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndromeAgnieszka Protasiuk0https://orcid.org/0009-0000-3085-9797Agata Żak1https://orcid.org/0009-0003-6533-9048Rafał Sierzpowski2https://orcid.org/0009-0001-0914-1139Patrycja Tymoszuk3https://orcid.org/0009-0004-8459-4199Bartosz Kasperek4https://orcid.org/0009-0003-6210-2782Katarzyna Augustowska5https://orcid.org/0000-0002-7530-328XMazowiecki Szpital Wojewódzki im. św. Jana Pawła II Sp. z o.o. w Siedlcach/ Mazovian Voivodeship Hospital of John Paul II in Siedlce Sp. z o.o., ul. Poniatowskiego 26, 08-110 SiedlceWojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie/ Stefan Cardinal Wyszyński Provincial Specialist Hospital SPZOZ in Lublin, Aleja Kraśnicka 100, 20-718 LublinWojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie/ Stefan Cardinal Wyszyński Provincial Specialist Hospital SPZOZ in Lublin, Aleja Kraśnicka 100, 20-718 Lublin Wojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie/ Stefan Cardinal Wyszyński Provincial Specialist Hospital SPZOZ in Lublin, Aleja Kraśnicka 100, 20-718 LublinWojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie/ Stefan Cardinal Wyszyński Provincial Specialist Hospital SPZOZ in Lublin, Aleja Kraśnicka 100, 20-718 LublinWojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie/ Stefan Cardinal Wyszyński Provincial Specialist Hospital SPZOZ in Lublin, Aleja Kraśnicka 100, 20-718 Lublin Introduction and purpose Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder characterized by a significantly increased risk of developing various malignancies, including ovarian cancer. This study aims to analyse the risk of ovarian cancer development in patients with Lynch syndrome and to compare the diagnostic and therapeutic approaches for this neoplasm in the context of sporadic cases. Description This discussion explores the genetic mechanisms underlying mutations in mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, and PMS2, which are essential for maintaining genomic stability. The diagnostic criteria, including the Amsterdam Criteria and the Bethesda Guidelines, are reviewed. The paper highlights the diagnostic challenges posed by the nonspecific symptoms of ovarian cancer and emphasizes the importance of early detection and monitoring. A comprehensive review of treatment modalities is also provided, covering surgical cytoreduction, chemotherapy, and emerging therapies, such as immunotherapy and cancer vaccines. The importance of interdisciplinary care for patients is underscored, along with the need for preventive measures and health education to manage cancer risk. Summary Despite the challenges associated with diagnosis and treatment, the prognosis for patients with ovarian cancer linked to Lynch syndrome is generally more favourable than for those with sporadic cancers. This can be attributed to earlier diagnosis and the favourable histopathological characteristics of tumours associated with Lynch syndrome. https://apcz.umk.pl/JEHS/article/view/56840Lynch syndromeovarian cancermismatch repairmicrosatallite instabilitycancer vaccines |
| spellingShingle | Agnieszka Protasiuk Agata Żak Rafał Sierzpowski Patrycja Tymoszuk Bartosz Kasperek Katarzyna Augustowska Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome Journal of Education, Health and Sport Lynch syndrome ovarian cancer mismatch repair microsatallite instability cancer vaccines |
| title | Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome |
| title_full | Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome |
| title_fullStr | Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome |
| title_full_unstemmed | Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome |
| title_short | Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome |
| title_sort | diagnostic challenges in the diagnosis and treatment of ovarian cancer in lynch syndrome |
| topic | Lynch syndrome ovarian cancer mismatch repair microsatallite instability cancer vaccines |
| url | https://apcz.umk.pl/JEHS/article/view/56840 |
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