10 research outputs found
Multi-wavelength observations of the peculiar red giant HR 3126
Ultraviolet observations of the red giant HR 3126 are combined with multi-wavelength data in order to provide a firmer basis for explaining the arc-minute sized nebula surrounding the object. Possibilities as to the location of HR 3126 on the Hertzsprung-Russel diagram, and to the formation mechanisms of the reflection nebula IC 2220 associated with it, are summarized
Infants and newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB registry: a unique and challenging population
SIMPLE SUMMARY: Malignant rhabdoid tumors (MRT) are deadly tumors that predominantly affect infants and young children. Even when considering the generally young age of these patients, the treatment of infants below the age of six months represents a particular challenge due to the vulnerability of this patient population. The aim of our retrospective study was to assess the available information on prognostic factors, genetics, toxicity of treatment and long-term outcomes of MRT. We confirmed that, in a cohort of homogenously treated infants with MRT, significant predictors of outcome were female sex, localized stage, absence of a GLM and maintenance therapy, and these significantly favorably influence prognosis. Stratification-based biomarker-driven tailored trials may be a key option to improve survival rates. ABSTRACT: Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors, genetics, toxicity of treatment and long-term outcomes is sparse. Methods: Clinical, genetic, and treatment data of 100 patients (aged below 6 months at diagnosis) from 13 European countries were analyzed (2005–2020). Tumors and matching blood samples were examined for SMARCB1 mutations using FISH, MLPA and Sanger sequencing. DNA methylation subgroups (ATRT-TYR, ATRT-SHH, and ATRT-MYC) were determined using 450 k / 850 k-profiling. Results: A total of 45 patients presented with ATRT, 29 with extracranial, extrarenal (eMRT) and 9 with renal rhabdoid tumors (RTK). Seventeen patients demonstrated synchronous tumors (SYN). Metastases (M+) were present in 27% (26/97) at diagnosis. A germline mutation (GLM) was detected in 55% (47/86). DNA methylation subgrouping was available in 50% (31 / 62) with ATRT or SYN; for eMRT, methylation-based subgrouping was not performed. The 5-year overall (OS) and event free survival (EFS) rates were 23.5 ± 4.6% and 19 ± 4.1%, respectively. Male sex (11 ± 5% vs. 35.8 ± 7.4%), M+ stage (6.1 ± 5.4% vs. 36.2 ± 7.4%), presence of SYN (7.1 ± 6.9% vs. 26.6 ± 5.3%) and GLM (7.7 ± 4.2% vs. 45.7 ± 8.6%) were significant prognostic factors for 5-year OS. Molecular subgrouping and survival analyses confirm a previously described survival advantage for ATRT-TYR. In an adjusted multivariate model, clinical factors that favorably influence the prognosis were female sex, localized stage, absence of a GLM and maintenance therapy. Conclusions: In this cohort of homogenously treated infants with MRT, significant predictors of outcome were sex, M-stage, GLM and maintenance therapy. We confirm the need to stratify which patient groups benefit from multimodal treatment, and which need novel therapeutic strategies. Biomarker-driven tailored trials may be a key option
Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population
Malignant rhabdoid tumors (MRT) predominantly affect infants and young
children. Patients below six months of age represent a particularly therapeutically challenging group.
Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors,
genetics, toxicity of treatment and long-term outcomes is sparse. Methods: Clinical, genetic, and
treatment data of 100 patients (aged below 6 months at diagnosis) from 13 European countries were
analyzed (2005–2020). Tumors and matching blood samples were examined for SMARCB1 mutations
using FISH, MLPA and Sanger sequencing. DNA methylation subgroups (ATRT-TYR, ATRT-SHH,
and ATRT-MYC) were determined using 450 k / 850 k-profiling. Results: A total of 45 patients
presented with ATRT, 29 with extracranial, extrarenal (eMRT) and 9 with renal rhabdoid tumors (RTK).
Seventeen patients demonstrated synchronous tumors (SYN). Metastases (M+) were present in 27%
(26/97) at diagnosis. A germline mutation (GLM) was detected in 55% (47/86). DNA methylation
subgrouping was available in 50% (31 / 62) with ATRT or SYN; for eMRT, methylation-based
subgrouping was not performed. The 5-year overall (OS) and event free survival (EFS) rates were
23.5 ± 4.6% and 19 ± 4.1%, respectively. Male sex (11 ± 5% vs. 35.8 ± 7.4%), M+ stage (6.1 ± 5.4%
vs. 36.2 ± 7.4%), presence of SYN (7.1 ± 6.9% vs. 26.6 ± 5.3%) and GLM (7.7 ± 4.2% vs. 45.7 ± 8.6%)
were significant prognostic factors for 5-year OS. Molecular subgrouping and survival analyses
confirm a previously described survival advantage for ATRT-TYR. In an adjusted multivariate model,
clinical factors that favorably influence the prognosis were female sex, localized stage, absence of
a GLM and maintenance therapy. Conclusions: In this cohort of homogenously treated infants
with MRT, significant predictors of outcome were sex, M-stage, GLM and maintenance therapy. We confirm the need to stratify which patient groups benefit from multimodal treatment, and which
need novel therapeutic strategies. Biomarker-driven tailored trials may be a key option
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Vibrational entropy of disordering in omphacite.
Acknowledgements: This work was supported by grants from the Austrian Science Fund (FWF), project number P33904, which is gratefully acknowledged. We thank G. Tippelt for performing the X-ray experiments and E. Forsthofer for maintaining the Materials Studio software at the Salzburg University. We also thank two anonymous reviewers for their detailed and constructive comments.Funder: Paris Lodron University of SalzburgUNLABELLED: The cations of an ordered omphacite from the Tauern window were gradually disordered in piston cylinder experiments at temperatures between 850 and 1150 °C. The samples were examined by X-ray powder diffraction and then investigated using low-temperature calorimetry and IR spectroscopy. The low-temperature heat capacity data were used to obtain the vibrational entropies, and the line broadening of the IR spectra served as a tool to investigate the disordering enthalpy. These data were then used to calculate the configurational entropy as a function of temperature. The vibrational entropy does not change during the cation ordering phase transition from space group C2/c to P2/n at 865 °C but increases with a further temperature increase due to the reduction of short-range order. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00269-023-01260-7
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Vibrational entropy of disordering in omphacite
Acknowledgements: This work was supported by grants from the Austrian Science Fund (FWF), project number P33904, which is gratefully acknowledged. We thank G. Tippelt for performing the X-ray experiments and E. Forsthofer for maintaining the Materials Studio software at the Salzburg University. We also thank two anonymous reviewers for their detailed and constructive comments.Funder: Paris Lodron University of SalzburgThe cations of an ordered omphacite from the Tauern window were gradually disordered in piston cylinder experiments at temperatures between 850 and 1150 °C. The samples were examined by X-ray powder diffraction and then investigated using low-temperature calorimetry and IR spectroscopy. The low-temperature heat capacity data were used to obtain the vibrational entropies, and the line broadening of the IR spectra served as a tool to investigate the disordering enthalpy. These data were then used to calculate the configurational entropy as a function of temperature. The vibrational entropy does not change during the cation ordering phase transition from space group C2/c to P2/n at 865 °C but increases with a further temperature increase due to the reduction of short-range order