【佳學(xué)基因檢測】多囊肝病的遺傳學(xué)、病理學(xué)和治療機(jī)會

腫瘤基因檢測是什么意思—答案

綜述癌的基因檢測基因解碼如何創(chuàng)新治療在《腫瘤致病基因檢測與轉(zhuǎn)移潛能分析》收錄《Nat Rev Gastroenterol Hepatol》在.?2022 Sep;19(9):585-604.發(fā)表了一篇題目為《多囊肝病的遺傳學(xué)、病理學(xué)和治療機(jī)會》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Paula Olaizola?#,?Pedro M Rodrigues?#,?Francisco J Caballero-Camino,?Laura Izquierdo-Sanchez,?Patricia Aspichueta,?Luis Bujanda,?Nicholas F Larusso,?Joost P H Drenth,?Maria J Perugorria,?Jesus M Banales等完成。促進(jìn)了腫瘤的正確治療與個性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內(nèi)容關(guān)鍵詞：

腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

多囊性肝病 (PLD) 是一種遺傳性遺傳疾病，其特征是肝內(nèi)充滿液體的膽管囊腫（超過 10 個）進(jìn)行性發(fā)展，構(gòu)成發(fā)病的主要原因并顯著影響生活質(zhì)量。肝囊腫出現(xiàn)在常染色體顯性遺傳 PLD (ADPLD) 患者中，或與常染色體顯性或常染色體隱性遺傳多囊腎病（分別為 ADPKD 和 ARPKD）患者的腎囊腫同時發(fā)生。肝囊腫形成是一個異質(zhì)的過程，有幾個風(fēng)險因素會增加發(fā)生較大囊腫的幾率。根據(jù)致病基因，PLD 可以僅在肝臟中出現(xiàn)，也可以與腎囊腫同時出現(xiàn)。目前的治療策略，主要基于外科手術(shù)和/或生長抑素類似物的長期給藥，顯示出適度的益處，肝移植是少有可能治好的選擇。越來越多的研究揭示了 PLD 的遺傳景觀和隨之而來的膽管細(xì)胞異常，這可以為發(fā)現(xiàn)新的治療靶點(diǎn)和為患者設(shè)計新的潛在治療基因解碼基因檢測的研究方法鋪平道路。在此，基因解碼基因檢測對 PLD 領(lǐng)域的賊新進(jìn)展進(jìn)行了批判性和全面的概述，主要關(guān)注遺傳學(xué)、病理生物學(xué)、風(fēng)險因素和下一代治療策略，突出了基礎(chǔ)、轉(zhuǎn)化和臨床研究的未來方向。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國際數(shù)據(jù)庫描述：

Polycystic liver diseases (PLDs) are inherited genetic disorders characterized by progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which constitute the main cause of morbidity and markedly affect the quality of life. Liver cysts arise in patients with autosomal dominant PLD (ADPLD) or in co-occurrence with renal cysts in patients with autosomal dominant or autosomal recessive polycystic kidney disease (ADPKD and ARPKD, respectively). Hepatic cystogenesis is a heterogeneous process, with several risk factors increasing the odds of developing larger cysts. Depending on the causative gene, PLDs can arise exclusively in the liver or in parallel with renal cysts. Current therapeutic strategies, mainly based on surgical procedures and/or chronic administration of somatostatin analogues, show modest benefits, with liver transplantation as the only potentially curative option. Increasing research has shed light on the genetic landscape of PLDs and consequent cholangiocyte abnormalities, which can pave the way for discovering new targets for therapy and the design of novel potential treatments for patients. Herein, we provide a critical and comprehensive overview of the latest advances in the field of PLDs, mainly focusing on genetics, pathobiology, risk factors and next-generation therapeutic strategies, highlighting future directions in basic, translational and clinical research.