Epidemiology of GIST demonstrates some consistent features across geographical regions. Whether the reported extreme differences in incidence reflect real variation in population risk warrants further investigation.
Abstract. High rates of mutation in the TP53 tumor suppressor gene have been found in many human cancers, including breast tumors, making p53 one of the most studied proteins in oncology. However, the prognostic and predictive value of alterations in this gene remains ambiguous. To analyze the clinical value of somatic TP53 mutations, we collected clinical and molecular data on 210 women with primary breast cancer. We found significant associations of p53 mutations with tumor grade, metastasis, molecular subtype, Her2 status and inverse correlations with estrogen and progesterone receptor status. Cox proportional hazard analysis confirmed a strong prognostic value of p53 mutation for overall survival rate and highlighted significant interactions with lymph node involvement and tumor size. In relation to treatment options, TP53 mutations were associated with poor response to anthracyclines and radiotherapy. Categorization of TP53 mutations according to their type and location revealed that patients with nonsense mutation have the poorest prognosis in comparison with wild-type cases and other types of mutations in this gene. Classification of TP53 mutations with respect to the degree of disturbance of protein structure showed association of disruptive mutations with poorer patients' outcome in contrast to wild-type and non-disruptive mutations. In conclusion, the present study confirms p53 as a potential predictive and prognostic factor in oncology practice and highlights the growing evidence that distinct types of mutations have different clinical impacts.
1 Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno 2 Úsek klinické psychologie, Masarykův onkologický ústav, Brno Souhrn O přínosu integrace paliativní péče do onkologické praxe bylo v posledních letech publikováno několik klinických studií. Je zřejmé, že každý onkolog má ve své péči pa cienty s pokročilým onemocněním, které léčí nekurativní protinádorovou léčbou, kteří ale dříve či později zprogredují a budou potřebovat již "jen" symp tomatickou péči. Obzvláště u těchto pa cientů obvykle nabývají na významu komplexní potřeby v oblasti tělesných symp tomů, ale také v oblasti psychologické, sociální a spirituální. Každý onkolog poskytuje v rámci své klinické praxe v určitém rozsahu paliativní péči a každý se s tímto tématem potýká dle svých zkušeností a možností. Výzkumy z posledních let ukazují, že pro pa cienty a jejich rodiny je přínosné, pokud je souběžně s nekurativní protinádorovou léčbou do péče zapojen paliativní tým a výše popsané komplexní potřeby spojené s pokročilým onemocněním řeší společně s ošetřujícím onkologem v rámci poskytování specializované paliativní péče. Tento model tzv. časné integrace paliativní péče prokázal jednoznačný benefit v oblasti kvality života a racionálního využívání nákladných léčebných modalit. V českých podmínkách je tento model ovšem spíše výjimečný. Paliativní péče bývá většinou chápána jako léčebný přístup, který je indikován, až když byly vyčerpány všechny možnosti protinádorové léčby. Na případu 34leté ženy s diseminovaným kolorektálním karcinomem popíšeme možnosti integrované paliativní péče v reálné praxi. Klíčová slovapaliativní péče -psychoonkologie -kolorektální nádory
A retrospective analysis of consecutive patients (183 in total, of which 105 were males and 78 females) with gastrointestinal stromal tumour (GIST) was performed. The mean age was 61 years, median age 64 years. The most frequent localization of the tumour was stomach in 74 patients (40.4 %) and the small intestine in 46 patients (25.1 %). Two or more different synchronous or metachronous cancers occurred in 34 (18.6 %) patients with histologically confi rmed GIST. Ninety-six patients were treated with imatinib mesylate in palliative setting during the course of their disease. The therapy was fi nished in 60 patients and 36 patients have been treated so far. The median progression-free survival reached 32.9 months in the group of 96 patients treated with imatinib. The median overall survival in the group of 96 patients treated for metastatic disease reached 77 months. Two-year and 5-year survival was 85.2 % and 63.1 %, respectively. The second-line therapy with sunitinib malate was administered in 37 patients, of which 31 fi nished and 6 continued in the therapy. The median progression free survival and median survival since the sunitinib therapy initiation reached 8.4 and 22.1 months, respectively (Tab. 2, Fig. 2
Inoperable c-kit negative gastrointestinal stromal tumor (GIST) is commonly considered to be highly resistant to systemic therapy. We present a case of a woman with an abdominal sarcoma-like tumor dia gnosed at the age of 26. The patient underwent several surgical procedures and courses of cytostatic therapy without any substantial effect. Later, the tumor was reclassified as c-kit negative GIST harbouring the mutation in exon 12 of PDGFRA gene. Hence, the therapy with imatinib mesylate was initiated, resulting in partial remission of metastatic lesions and further stabilization of the disease for five yeas to date. We therefore consider imatinib mesylate an appropriate therapy for c-kit negative GIST bearing PDGFRA mutations.
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