61 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
Mennyit vár ma Magyarországon egy myelomás beteg a diagnózisig?
INTRODUCTION: Long delays with the diagnosis of myeloma are common. So far there has not been a comprehensive study on this issue in Hungary. AIM: The aim of the authors was to analyze the waiting time from their first symptoms to the diagnosis of myeloma. METHOD: 193 myeloma patients treated in one large tertiary referral hematology centre in Hungary were included. RESULTS: The median time was 4.1 months (0-35.4) until diagnosis, and 5.2 months (0-35.4) until treatment. The delay was longer in patients with better prognosis (early stage, low cytogenetic risk), in nonsecretory disease and in 5 patients with amyloidosis. There was no significant relationship between the delay and the survival. CONCLUSIONS: Considering the results of the present study and earlier literature data, the authors look for possibilities to improve the diagnostic delay. They think that the key to an earlier diagnosis is in the hands of the primary care physicians as they see the patients first and decide whether it is necessary to refer them to further test and to which specialty. Helping them with diagnostic algorithms, clear referring pathways, fast tracking patients with urgent problems, and making serum electrophoresis universally available in the primary care could help to reduce the time that myeloma patients spend waiting. Orv. Hetil., 2014, 155(39), 1538-1543
Diffusion weighted magnetic resonance imaging demonstrates tumor response following palliative embolization of a recurrent shoulder plasmacytoma
We report the palliative embolization and functional imaging follow-up of a recurrent shoulder plasmacytoma. The multiple myeloma patient complained of severe pain and discomfort, while he could not tolerate further chemotherapy. The left shoulder lesion had earlier received a high dose of irradiation. Thus, the well-vascularized lesion was embolized via feeding arteries branching off from the left subclavian artery in two sessions. The patient's symptoms rapidly improved post-embolization and the serum free light chain ratio stabilized at a lower level. The follow-up magnetic resonance image showed increased diffusivity in previously restricted tumor foci. This has negatively correlated with the decreased fludeoxyglucose uptake on PET, suggesting post-embolization necrosis
Prognosztikai tényezők könnyűlánc-amyloidosisban
Introduction: Light chain amyloidosis is characterized by extracellular deposition of a fibrillar material derived from immunglobulin light chain fragments. Aim: The aim of the authors was to assess survival depending on cardiac involvement, therapy, and presence of myeloma. Method: The authors studied a retrospective cohort of 29 patients with light chain amyloidosis (13 kappa, 16 lambda) treated in their institution between 2005 and 2014. Results: Twenty-one patients had primary amyloidosis, while 8 had coexisting multiple myeloma. One, two and three or more organs were involved in 4, 8, and 17 patients, respectively. Cardiac involvement (22 cases) inversely correlated with survival. Fifteen (52%) patients received chemotherapy only, while 14 (48%) underwent autologous stem cell transplantation with a median survival of 87 and 11.4 months, respectively. Two patients had heart transplantation and survived 70 and 30 months. Median overall survival was 75.8 months. Conclusions: Cardiac transplantation followed by autologous stem cell transplantation is feasible in selected patients with light chain amyloidosis and heart failure
A myeloma multiplex megközelítése Magyarországon 2016-ban
Absztrakt
A myeloma multiplex kezelése az elmúlt évtizedben óriásit változott. Mind a
kemoterápiás protokollok, mind a szupportív kezelés nagy fejlődésen ment át,
amióta a legutóbbi magyar ajánlás megjelent. A betegek egyre nagyobb része ér el
tartós választ, és mind többük számára van talán esély a gyógyulásra is. Az
összefoglaló célja, hogy az utóbbi évek eredményeit is beépítve, az érvényes
nemzetközi ajánlásokat a magyar viszonyok sajátosságaihoz adaptálva segítse a
betegek leghatékonyabb kezelését. Orv. Hetil., 2016, 157(4),
123–137
Prognosztikai tényezők könnyűlánc-amyloidosisban
Absztrakt
Bevezetés: A könnyűlánc-amyloidosis immunglobulinok
könnyűláncaiból származó fibrilláris anyag extracelluláris lerakódása
következtében kialakuló kórkép. Célkitűzés: A szerzők célja a
szívérintettség, a kezelés és a myeloma fennállásának függvényében a túlélési
idők meghatározása. Módszer: Retrospektív kohorszvizsgálatban
29, 2005–2014 között intézményünkben kezelt könnyűlánc-amyloidosisos beteg
dokumentációját használtuk fel. Eredmények: Primer
könnyűlánc-amyloidosist 21 esetben diagnosztizáltuk. A betegek 27,6%-ában a
könnyűlánc-amyloidosishoz myeloma is társult. Az amyloidogen könnyűlánc 13
betegben kappa, 16 esetben lambda típusú volt. A folyamat 17 beteg esetében ≥3,
8 esetében 2, 4 esetében 1 szervre terjedt ki. A tünetek alapján a szív 22
esetben volt érintett. A szívérintettség fordítottan korrelált a túléléssel.
Tizenöt beteg (52%) csak kemoterápiában, míg 14 (48%) autológ
őssejt-transzplantációban részesült. A medián túlélés 87, illetve 11,4 hónap
volt. Két betegnél történt szívtranszplantáció. Ők a beavatkozást 70, illetve 30
hónappal élték túl. A medián teljes túlélés 75,8 hónapnak adódott.
Következtetések: Szívtranszplantációt követő autológ
őssejtátültetés a betegség progresszióját feltartóztathatja. Orv. Hetil., 2015,
156(39), 1577–1584
NFKB1 -94ins/delATTG polymorphism is a novel prognostic marker in first line-treated multiple myeloma
Nuclear factor kappa B (NFKB) plays an important role in multiple myeloma (MM), and bortezomib affects this pathway. We retrospectively analysed the effect of the NFKB1 -94ins/delATTG polymorphism on the survival of 295 MM patients treated at a single centre. The median progression-free survival (PFS) was 790 (659-921) d in patients with NFKB1 homozygous insertion genotype (I/I, n = 99) and 624 (515-733) d in deletion-carriers (I/D&D/D, n = 196, P = 0.013). In multivariate analysis, I/I carriers showed a favourable PFS compared to I/D&D/D with a hazard ratio of 0.622 (0.457-0.847), P = 0.003, in addition to international staging system (ISS) score, fluorescence in situ hybridization (FISH) risk score, age and bortezomib treatment. I/I patients benefited more from bortezomib treatment [PFS 902 (703-1101) and 580 (343-817), P = 0.008] than I/D&D/D patients [PFS 659 (487-831) and 488 (323-653), P = 0.531]; in addition the beneficial effect of low ISS score was not observed in the I/D&D/D group [PFS 639 (454-824) and 650 (458-842), P = 0.226], while it was clear in I/I patients [PFS 1140 (803-1477) and 580 (408-752), P < 0.001]. We conclude that homozygous carriers of the insertion allele of the NFKB1 -94ins/delATTG polymorphism have a better prognosis and probably benefit more from bortezomib treatment than MM patients carrying the deletion allele
Corneal Densitometry and In Vivo Confocal Microscopy in Patients with Monoclonal Gammopathy—Analysis of 130 Eyes of 65 Subjects
Background: Corneal imaging may support an early diagnosis of monoclonal gammopathy.
The goal of our study was to analyze corneal stromal properties using Pentacam and in vivo confocal
cornea microscopy (IVCM) in subjects with monoclonal gammopathy. Patients and methods: In our
cross-sectional study, patients with monoclonal gammopathy (130 eyes of 65 patients (40.0% males;
age 67.65 ± 9.74 years)) and randomly selected individuals of the same age group, without hematological disease (100 eyes of 50 control subjects (40.0% males; age 60.67 ± 15.06 years)) were included.
Using Pentacam (Pentacam HR; Oculus GmbH, Wetzlar, Germany), corneal stromal light scattering
values were obtained (1) centrally 0–2 mm zone; (2) 2–6 mm zone; (3) 6–10 mm zone; (4) 10–12 mm
zone. Using IVCM with Heidelberg Retina Tomograph with Rostock Cornea Module (Heidelberg
Engineering, Heidelberg, Germany), the density of hyperreflective keratocytes and the number
of hyperreflective spikes per image were manually analyzed, in the stroma. Results: In the first,
second and third annular zone, light scattering was significantly higher in subjects with monoclonal
gammopathy, than in controls (p ≤ 0.04). The number of hyperreflective keratocytes and hyperreflective spikes per image was significantly higher in stroma of subjects with monoclonal gammopathy
(p ≤ 0.012). Conclusions: Our study confirms that increased corneal light scattering in the central
10 mm annular zone and increased keratocyte hyperreflectivity may give rise to suspicion of monoclonal gammopathy. As corneal light scattering is not increased at the limbal 10–12 mm annular
zone in monoclonal gammopathy subjects, our spatial analysis provides evidence against the limbal
origin of corneal paraprotein deposition. Using IVCM, stromal hyperreflective spikes may represent
specific signs of monoclonal gammopathy
Evaluation of Retinal Blood Flow in Patients with Monoclonal Gammopathy Using OCT Angiography
Background: Monoclonal gammopathy (MG) is characterized by monoclonal protein
overproduction, potentially leading to the development of hyperviscosity syndrome. Objective:
To assess retinal circulation using optical coherence tomography angiography (OCTA) parameters
in patients with monoclonal gammopathy. Methods: OCTA measurements were performed using the Optovue AngioVue system by examining 44 eyes of 27 patients with MG and 62 eyes of
36 control subjects. Superficial and deep retinal capillary vessel density (VD SVP and DVP) in the
whole 3 × 3 mm macular and parafoveal area, foveal avascular zone (FAZ) area, and central retinal
thickness (CRT) were measured using the AngioAnalytics software. The OCTA parameters were
evaluated in both groups using a multivariate regression model, after controlling for the effect of
imaging quality (SQ). Results: There was no significant difference in age between the subjects with
monoclonal gammopathy and the controls (63.59 ± 9.33 vs. 58.01 ± 11.46 years; p > 0.05). Taking into
account the effect of image quality, the VD SVP was significantly lower in the MG group compared
to the control group (44.54 ± 3.22% vs. 46.62 ± 2.84%; p < 0.05). No significant differences were
found between the two groups regarding the other OCTA parameters (p > 0.05). Conclusions: A
decreased superficial retinal capillary vessel density measured using OCTA in patients with MG
suggests a slow blood flow, reduced capillary circulation, and consequent tissue hypoperfusion. An
evaluation of retinal circulation using OCTA in cases of monoclonal gammopathy may be a sensitive
method for the non-invasive detection and follow-up of early microcirculatory dysfunction caused by
increased viscosity
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