Fibromatoze: klīniskie gadījumi un literatūras apskats
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Date
2022
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Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Darba nosaukums: Fibromatoze: klīniskie gadījumi un literatūras apskats.
Aktualitāte: Fibromatoze (saukta arī par desmoīdā tipa fibromatozi, desmoīdo tumoru, vai agresīvu fibromatozi), ir labdabīgs, nereti lokāli agresīvi augošs audzējs, kam nepiemīt spēja radīt distālas metastāzes. Šie audzēji ir monoklonālas fibroblastiskas, vai miofibroblastiskas neoplazmas, ar invazīvas augšanas raksturu. Tiem piemīt spēja arī vairākkārt recidivēt, kas rada nepieciešamību atkārtotai ķirurģiskai ārstēšanai kā dēļ tiek meklētas jaunas, efektīvas terapijas iespējas. Lielākā daļa šo audzēju attīstās somātisku mutāciju dēļ, beta-katenīna (CTNNB1) gēnā. Retāk audzēja attīstība sastopama pārmantotu ģenētisku mutāciju rezultātā, saistībā ar ģimenes adenomatozo polipozi, vai Gardnera sindromu. Kopumā desmoīdie audzēji sastāda 0,3% no visām solīdajām neoplazmām, un to incidence ir 2,4 – 4,3 jauni gadījumi uz 1 miljonu indivīdu gadā. Viena no retākajām audzēja lokalizācijām, ko plānots apskatīt šajā darbā kā gadījumu aprakstu un literatūras apskatu, ir krūts lokalizācijas fibromatoze. Šie audzēji krūtī pārstāv mazāk kā 10% no visiem desmoīdiem audzējiem, tādēļ tie joprojām ir relatīvi maz pētīti. Starp audzēja riska faktoriem sastopamas iepriekš minētās ģenētiskās mutācijas kā arī, tiek uzskatīts, ka audzēju var izraisīt iepriekšēja trauma audzēja attīstības lokalizācijā. Trauma, kas veicina šī audzēja veidošanos var būt kā ķirurģiska, tā nejauša. Lielākoties šie audzēji sastopami sievietēm reproduktīvā vecumā, bet vecums diagnozes brīdī plaši variē, ar gadījumiem sastopamiem no 17, līdz pat 80 gadu vecumam. Šī saslimšana, pierādījusies kā diagnostisks un terapeitisks izaicinājums, ar tendenci imitēt ļaundabīgu krūts audzēju gan klīniski, gan attēldiagnostikas izmeklējumos. Galvenā ārstēšanas metode ilgus gadus bijusi audzēja ķirurģiska ekscīzija, taču, ņemot vērā audzēja biežo, reizēm neizskaidrojamo recidivēšanu un neparedzamo klīnisko gaitu, šī metode pēdējo gadu gaitā tiek apšaubīta, kā pirmās izvēles ārstēšanas metode visos krūts fibromatozes gadījumos. Balstoties uz novērojumiem, par audzēja spontānas regresijas vai stabilas slimības iespējamību līdz pat 50% gadījumos, dažādu autoru ziņojumos, tiek rekomendēta jauna krūts fibromatozes ārstēšanas pieeja. Izvēlētiem pacientiem, sākotnēji tiek rekomendēts pielietot aktīvās novērošanas metodi, iepriekš individuāli izvērtējot pacientes slimības gaitu un klīniskās izpausmes.
Pētījuma mērķis: Noskaidrot precīzākās krūts fibromatozes diagnostikas iespējas, kas aprakstītas literatūrā. Uzzināt, par jaunām, mazinvazīvām ārstēšanas iespējām krūts fibromatozes terapijā. Noskaidrot piemērotāko krūts fibromatozes ārstēšanas pieeju, izmantojot jaunāko, pieejamo literatūru par krūts lokalizācijas fibromatozi. Salīdzināt literatūrā pieejamos datus par krūts fibromatozes diagnostiku un ārstēšanu, ar trīs pacienšu izmeklēšanas un ārstēšanas rezultātiem Paula Stradiņa Klīniskās universitātes slimnīcas, Krūts slimību centrā, laika per
Title of the study: Fibromatosis: clinical cases and literature review. Background: Fibromatosis (also called desmoid fibromatosis, desmoid tumor, or aggressive fibromatosis) is a benign, often locally aggressive, tumor that does not have the ability to cause distal metastases. These tumors are monoclonal fibroblastic, or myofibroblastic neoplasms, of an invasive growth nature. They also have the ability to relapse repeatedly, necessitating repeated surgical treatment leading to searches for new, effective treatment options. Most of these tumors develop due to somatic mutations in the beta-catenin (CTNNB1) gene. Less often, the development of the tumor is due to inherited genetic mutations associated with familial adenomatous polyposis or Gardner's syndrome. In total, desmoid tumors account for 0.3% of all solid neoplasms and have an incidence of 2.4 to 4.3 new cases per 1 million individuals per year. One of the rarest tumor localizations to be considered in this work as a case study and literature review is breast localization fibromatosis. These breast tumors account for less than 10% of all desmoid tumors and are therefore relatively less studied. Among the risk factors for the tumor development, are the above-mentioned genetic mutations, and it is believed that it may be caused by previous trauma in the localization of the tumor. The trauma that contributes to this tumor formation, can be both surgical and accidental. Most of these tumors occur in women of childbearing age, but the age at diagnosis varies widely, with cases ranging from 17 to 80 years of age. This disease has proven to be a diagnostic and therapeutic challenge, with a tendency to mimic malignancy in both – imaging and clinically. The mainstay of treatment for many years has been surgical excision of the tumor, but due to the frequent, sometimes unexplained, recurrence and unpredictable clinical course of the tumor, it has been questioned in recent years as the first-line treatment for all breast fibromatosis cases. Based on observations of cases when spontaneous tumorr regression, or stable disease is seen up to 50% of the cases according to various authors, a new approach to the treatment of breast fibromatosis is recommended. For selected patients, it is initially recommended that the active monitoring method is being used, after prior evaluation of the patient's disease course and clinical manifestations. Aim of the study: To find out the most accurate diagnostic approach of breast fibromatosis described in the literature. To explore new, minimally invasive treatments for breast fibromatosis. To identify the most appropriate approach to the treatment of breast fibromatosis using the latest available literature on breast localization fibromatosis. To compare the data available in the literature on the diagnosis and treatment of breast fibromatosis with the results of three breast fibromatosis patients treated at the Breast Disease Center of Pauls Stradins Clinical Univers
Title of the study: Fibromatosis: clinical cases and literature review. Background: Fibromatosis (also called desmoid fibromatosis, desmoid tumor, or aggressive fibromatosis) is a benign, often locally aggressive, tumor that does not have the ability to cause distal metastases. These tumors are monoclonal fibroblastic, or myofibroblastic neoplasms, of an invasive growth nature. They also have the ability to relapse repeatedly, necessitating repeated surgical treatment leading to searches for new, effective treatment options. Most of these tumors develop due to somatic mutations in the beta-catenin (CTNNB1) gene. Less often, the development of the tumor is due to inherited genetic mutations associated with familial adenomatous polyposis or Gardner's syndrome. In total, desmoid tumors account for 0.3% of all solid neoplasms and have an incidence of 2.4 to 4.3 new cases per 1 million individuals per year. One of the rarest tumor localizations to be considered in this work as a case study and literature review is breast localization fibromatosis. These breast tumors account for less than 10% of all desmoid tumors and are therefore relatively less studied. Among the risk factors for the tumor development, are the above-mentioned genetic mutations, and it is believed that it may be caused by previous trauma in the localization of the tumor. The trauma that contributes to this tumor formation, can be both surgical and accidental. Most of these tumors occur in women of childbearing age, but the age at diagnosis varies widely, with cases ranging from 17 to 80 years of age. This disease has proven to be a diagnostic and therapeutic challenge, with a tendency to mimic malignancy in both – imaging and clinically. The mainstay of treatment for many years has been surgical excision of the tumor, but due to the frequent, sometimes unexplained, recurrence and unpredictable clinical course of the tumor, it has been questioned in recent years as the first-line treatment for all breast fibromatosis cases. Based on observations of cases when spontaneous tumorr regression, or stable disease is seen up to 50% of the cases according to various authors, a new approach to the treatment of breast fibromatosis is recommended. For selected patients, it is initially recommended that the active monitoring method is being used, after prior evaluation of the patient's disease course and clinical manifestations. Aim of the study: To find out the most accurate diagnostic approach of breast fibromatosis described in the literature. To explore new, minimally invasive treatments for breast fibromatosis. To identify the most appropriate approach to the treatment of breast fibromatosis using the latest available literature on breast localization fibromatosis. To compare the data available in the literature on the diagnosis and treatment of breast fibromatosis with the results of three breast fibromatosis patients treated at the Breast Disease Center of Pauls Stradins Clinical Univers
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
Krūts fibromatoze, krūts desmoīdais audzējs, krūts agresīva fibromatoze, Breast fibromatosis, breast desmoid tumor, aggressive breast fibromatosis