4 research outputs found
A Waldenström-macroglobulinaemia és betegségre szabott kezelése | Waldenström’s macroglobulinemia and its individualized therapy options
Absztrakt:
A Waldenström-féle macroglobulinaemia egy jellemzően a csontvelőben terjedő
lymphoplasmocytás lymphoma és következményes monoklonális IgM-hiperszekréció
okozta klinikai tünetegyüttes. A közelmúlt eredményei rámutattak, hogy a
betegség legalább három eltérő patobiológiájú és klinikai viselkedésű formájában
jelentkezhet. A MYD88 95–97%-os gyakoriságú mutációi mellett 30–40%-os
gyakorisággal megjelenhetnek CXCR4-mutációk, 17%-ban ARID1A-mutációk és 10%
körüli gyakorisággal CD79B-mutációk. A CXCR-jelátvitel képes a MYD88-aktiváció
fokozta tumorszuppresszorgén-működés elnémítására. A MYD88- és CXCR4-mutációk
együttes előfordulása nagyobb tumortömeget, kezeléskor lassabban kialakuló és
kevésbé mély választ eredményez, gyakoribb rezisztenciával. Összefoglalónkban a
legújabb adatok birtokában kívánunk támpontot nyújtani a szimptomatikus betegség
kezelésekor megkívánt kezelési protokoll megválasztásához. Orv Hetil. 2017;
158(41): 1604–1614.
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Abstract:
Waldenström’s macroglobulinaemia is a form of lymphoplasmocytic lymphoma that
preferentially localizes to the bone marrow and causes a special syndrome
characterized by monoclonal IgM hypersecretion. Recent results point to the fact
that this disease has at least three different pathobiological forms with
different clinical presentation. While mutations of MYD88 occur in 95–97% of the
cases, there are CXCR4 mutations in 30–40%, ARID1A mutations in 17% and CD79B
mutations in approximately 10% of afflicted individuals. CXCR pathway signaling
is able to transcriptionally silence tumor suppressors induced by MYD88
activation. Patients with mutated MYD88 and CXCR4 present with higher tumor
burden, slower developing and less deep response upon therapy with more frequent
resistance. In this review, based on the most recent data, a treatment selection
advice is provided for the therapy of symptomatic patients. Orv Hetil. 2017;
158(41): 1604–1614
Correlation between DNA ploidy, metaphase high-resolution comparative genomic hybridization results and clinical outcome of synovial sarcoma
<p>Abstract</p> <p>Background</p> <p>Although synovial sarcoma is the 3rd most commonly occurring mesenchymal tumor in young adults, usually with a highly aggressive clinical course; remarkable differences can be seen regarding the clinical outcome. According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. In addition, the connection between DNA ploidy and clinical course is controversial. The aim of this study was using a fine-tuning interpretation of our DNA ploidy results and to compare these with metaphase high-resolution CGH (HR-CGH) results.</p> <p>Methods</p> <p>DNA ploidy was determined on Feulgen-stained smears in 56 synovial sarcoma cases by image cytometry; follow up was available in 46 cases (average: 78 months). In 9 cases HR-CGH analysis was also available.</p> <p>Results</p> <p>10 cases were found DNA-aneuploid, 46 were DNA-diploid by image cytometry. With fine-tuning of the diploid cases according to the 5c exceeding events (single cell aneuploidy), 33 cases were so called "simple-diploid" (without 5c exceeding events) and 13 cases were "complex-diploid"; containing 5c exceeding events (any number). Aneuploid tumors contained large numbers of genetic alterations with the sum gain of at least 2 chromosomes (A-, B- or C-group) detected by HR-CGH. In the "simple-diploid" cases no or few genetic alterations could be detected, whereas the "complex-diploid" samples numerous aberrations (equal or more than 3) could be found.</p> <p>Conclusions</p> <p>Our results show a correlation between the DNA-ploidy, a fine-tuned DNA-ploidy and the HR-CGH results. Furthermore, we found significant correlation between the different ploidy groups and the clinical outcome (p < 0.05).</p