Navarra大學(xué)的研究者Borja Sáez Ochoa提出了診斷多發(fā)性骨髓瘤（MM）的新的遺傳方法，多發(fā)性骨髓瘤是骨髓癌的一種類型,，研究者發(fā)現(xiàn)的這種新方法可以在早期階段檢測(cè)到多發(fā)性骨髓瘤疾病,。??
Borja Sáez Ochoa生物學(xué)家在Navarra大學(xué)科學(xué)學(xué)院遺傳部和德國Schleswig-Holstein醫(yī)院人類遺傳研究所做的論文主要著重于對(duì)多發(fā)性骨髓瘤遺傳學(xué)基礎(chǔ)研究和后期發(fā)育的細(xì)胞遺傳學(xué)診斷策略的研究。??
鑒于這個(gè)目的,，他通過統(tǒng)計(jì)學(xué)方法對(duì)一群多發(fā)性骨髓瘤病人的細(xì)胞發(fā)生的變化進(jìn)行了分析,。該方法論可以發(fā)現(xiàn)特殊染色體改變之間的聯(lián)系，以及新類型疾病的描述,。另外,，熒光原位雜交技術(shù)可以鑒別有關(guān)病理學(xué)表現(xiàn)的新的循環(huán)遺傳改變。??
多發(fā)性骨髓瘤主要發(fā)病于60歲以上的老人,。2001年,，在Spain發(fā)現(xiàn)了1716個(gè)多發(fā)性骨髓瘤病例，其中1554人死于該疾病,，,。根據(jù)Borja Sáez研究，他們通過研究計(jì)劃發(fā)展起來的新的診斷方法,，比如，F(xiàn)ISH 和FICTION策略,，可以在疾病的早期階段快速簡單地發(fā)現(xiàn)遺傳的改變,，這樣可以進(jìn)行早期診斷。另外,，他還強(qiáng)調(diào),，這些操作促進(jìn)了未來更有效治療多發(fā)性骨髓瘤的分子靶的描述。??
多發(fā)性骨髓瘤遺傳診斷的新技術(shù)已經(jīng)在Spain的20家醫(yī)院得到應(yīng)用,。在不遠(yuǎn)的將來,，這些實(shí)驗(yàn)將容許我們根據(jù)每個(gè)病人的遺傳改變來采納相應(yīng)的治療方案，但這可能不能完全治愈該疾病,，他可能轉(zhuǎn)移為一種慢性疾病而成為沒有任何癥狀的病,。
英文原文：
An advanced genetic diagnostic method for multiple myeloma
A researcher at the University of Navarra, Borja Sáez Ochoa, has proposed a new genetic diagnostic method for multiple myeloma (MM), a type of bone marrow cancer, which permits the detection of this disease in earlier stages.
The dissertation of this biologist, produced in the Department of Genetics of the School of Sciences of the University of Navarra, and in the Institute of Human Genetics of the University Hospital of Schleswig-Holstein, en Kiel (Germany), is oriented towards the study of the genetic base of this cancer, and the posterior development of cytogenetic diagnostic strategies for the detection of alterations with prognostic value.
For this purpose, he has analyzed, by means of statistical methods, the cytogenetic changes in a group of patients with MM. This methodology has permitted the discovery of associations between specific chromosomal changes, and thus the description of a new classification of the disease. In addition, the technique of hybridization in situ with fluorescence allowed him to identify new recurrent genetic changes that are involved in the appearance of this pathology.
A disease associated with old age
Multiple myeloma is a disease which primarily affects persons above 60 years of age. In 2001 in Spain, 1716 new cases were detected, and 1554 patients with the disease died, with 20 of these in Navarra. According to Borja Sáez, with the new methods of diagnosis developed through this research project, such as the FISH and FICTION strategies, we will be able to detect genetic alterations rapidly and easily in the early stages of the disease, permitting its early diagnosis. In addition, he emphasized that these procedures will promote the description of molecular targets for future, more effective treatments of MM.
These new techniques for genetic diagnosis of MM are already being applied in 20 hospitals in Spain. And in a not too distant future, these tests will permit us to offer each patient a treatment adapted to the genetic modifications that he or she presents, which, while they may not provide a cure for the disease, will make it possible to transform it into a chronic and asymptomatic pathology.
