Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing

Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric cancers, sarcomas can arise in the setting of cancer predisposition syndromes. The association of sarcomas with these syndromes is often missed, due to the rarity and heterogeneity of sarcomas and the limited search of cancer genetic syndromes. This study included 43 pediatric and young adult patients with different sarcoma subtypes. Tumor profiling was undertaken using the Oncomine Childhood Cancer Research Assay (Thermo Fisher Scientific). Sequencing results were reviewed for potential germline alterations in clinically relevant genes associated with cancer predisposition syndromes. Jongmans´ criteria were taken into consideration for the patient selection. Fifteen patients were selected as having potential pathogenic germline variants due to tumor sequencing that identified variants in the following genes: CDKN2A, NF1, NF2, RB1, SMARCA4, SMARCB1 and TP53. The variants found in NF1 and CDKN2A in two different patients were detected in the germline, confirming the diagnosis of a cancer predisposition syndrome. We have shown that the results of somatic testing can be used to identify those at risk of an underlying cancer predisposition syndrome.This work was funded by Research Projects from Navarra Government (Ref. 54/2018), the Jesús de Gangoiti Barrera Foundation (FJGB18/004 and FJGB19/001), Asociación Pablo Ugarte APU (APU-osteosarcoma), La Cuadri del Hospi (BC/A/17/008), EITB Media AND BIOEF, SAU (BIO20/CI/015/BCB and BIO20/CI/011/BCB), Basque Government (2021111030) and Fundación La Caixa with Niños Contra el Cáncer. P.A.-P. is supported by a Basque Government fellowship (PRE_2021_2_0048)

No radiographic sacroiliitis progression was observed in patients with early spondyloarthritis at 6 years: results of the Esperanza multicentric prospective cohort

Objective: To estimate the 6-year radiographic progression of sacroiliitis in patients with early spondyloarthritis (SpA). Patients and methods: Sacroiliac joint (SIJ) radiographs (baseline and 6 years) of 94 patients with recent-onset SpA from the Esperanza cohort were scored, blindly and in a random order, by nine readers. The modified New York criteria were used to define the presence of sacroiliitis. As the gold standard for radiographic (r) sacroiliitis, the categorical opinion of at least five readers was used. Progression was defined as the shift from non-radiographic (nr) to r-sacroiliitis. Results: In the 94 SIJ radiographs (baseline and 6 years), 78/94 (83%) pairs of radiographs had not changed from baseline to 6 years. Sacroiliitis was present in 20 patients at baseline (21.3%) and in 18 (19.2%) patients at 6 years; 11 patients had sacroiliitis at both the baseline and final visits; 9 patients changed from baseline r-sacroiliitis to nr-sacroiliitis at 6 years, and 7 changed from baseline nr-sacroiliitis to r-sacroiliitis at 6 years. The mean continuous change score (range: -8 to +8) was 2.80 at baseline and 2.55 at 6 years (mean net progression of -0.25). The reliability of the readers was fair (mean inter-reader kappa of 0.375 (0.146-0.652) and mean agreement of 73.7% (58.7-90%)). Conclusion: In the early SpA Esperanza cohort, progression from nr-axSpA to r-axSpA over 6 years was not observed, although the SIJ radiographs scoring has limitations to detect low levels of radiographic progression

First measurement of the cross section for top-quark pair production in proton-proton collisions at vs=7 TeV

The first measurement of the cross section for top-quark pair production in pp collisions at the Large Hadron Collider at center-of-mass energy ?s = 7 TeV has been performed using a data sample corresponding to an integrated luminosity of 3.1 ± 0.3 pb?1 recorded by the CMS detector. This result utilizes the final state with two isolated, highly energetic charged leptons, large missing transverse energy, and two or more jets. Backgrounds from Drell?Yan and non-W/Z boson production are estimated from data. Eleven events are observed in the data with 2.1 ± 1.0 events expected from background. The measured cross section is 194 ± 72(stat.) ± 24(syst.) ± 21(lumi.) pb, consistent with next-to-leading order predictionsWe wish to congratulate our colleagues in the CERN accelerator departments for the excellent performance of the LHC machine. We thank the technical and administrative staff at CERN and other CMS institutes, and acknowledge support from: FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland, ME, and HIP (Finland); CEA and CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (United Kingdom); DOE and NSF (USA)

Measurement of the isolated prompt photons production cross section in pp collisions at √ s = 7 TeV

The differential cross section for the inclusive production of isolated prompt photons has been measured as a function of the photon transverse energy EγT in pp collisions at √s=7 TeV using data recorded by the CMS detector at the LHC. The data sample corresponds to an integrated luminosity of 2.9 pb−1. Photons are required to have a pseudorapidity |ηγ|21  GeV, covering the kinematic region 0.006<xT<0.086. The measured cross section is found to be in agreement with next-to-leading-order perturbative QCD calculations.We wish to congratulate our colleagues in the CERN accelerator departments for the excellent performance of the LHC machine. We thank the technical and administrative staff at CERN and other CMS institutes, and acknowledge support from the following: FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland, ME, and HIP (Finland); CEA and CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (U.K.); DOE and NSF (U.S.)

Inclusive b-hadron production cross section with muons in pp collisions at s√=7TeV

A measurement of the b-hadron production cross section in proton-proton collisions at s√=7TeV is presented. The dataset, corresponding to 85 nb−1, was recorded with the CMS experiment at the LHC using a low-threshold single-muon trigger. Events are selected by the presence of a muon with transverse momentum pμT>6GeV with respect to the beam direction and pseudorapidity |η μ| < 2.1. The transverse momentum of the muon with respect to the closest jet discriminates events containing b hadrons from background. The inclusive b-hadron production cross section is presented as a function of muon transverse momentum and pseudorapidity. The measured total cross section in the kinematic acceptance is σ(pp → b + X → μ + X′) = 1.32 ± 0.01(stat) ± 0.30(syst) ± 0.15(lumi)μb.We wish to congratulate our colleagues in the CERN accelerator departments for the excellent performance of the LHC machine. We thank the technical and administrative staff at CERN and other CMS institutes, and acknowledge support from: FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland, ME, and HIP (Finland); CEA and CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (United Kingdom); DOE and NSF (USA)

Measurement of BB¯¯¯¯ angular correlations based on secondary vertex reconstruction at s√=7TeV

A measurement of the angular correlations between beauty and anti-beauty hadrons (BB¯¯¯¯) produced in pp collisions at a centre-of-mass energy of 7 TeV at the CERN LHC is presented, probing for the first time the region of small angular separation. The B hadrons are identified by the presence of displaced secondary vertices from their decays. The B hadron angular separation is reconstructed from the decay vertices and the primary-interaction vertex. The differential BB¯¯¯¯ production cross section, measured from a data sample collected by CMS and corresponding to an integrated luminosity of 3.1 pb−1, shows that a sizable fraction of the BB¯¯¯¯ pairs are produced with small opening angles. These studies provide a test of QCD and further insight into the dynamics of bb¯¯¯ production.We wish to congratulate our colleagues in the CERN accelerator departments for the excellent performance of the LHC machine. We thank the technical and administrative staff at CERN and other CMS institutes, and acknowledge support from: FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland,ME, andHIP (Finland); CEAand CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (United Kingdom); DOE and NSF (USA)

Transverse-Momentum and Pseudorapidity Distributions of Charged Hadrons in pp Collisions at √s=7 TeV

Charged-hadron transverse-momentum and pseudorapidity distributions in proton-proton collisions at √s=7  TeV are measured with the inner tracking system of the CMS detector at the LHC. The charged-hadron yield is obtained by counting the number of reconstructed hits, hit pairs, and fully reconstructed charged-particle tracks. The combination of the three methods gives a charged-particle multiplicity per unit of pseudorapidity dNch/dηη|<0.5=5.78±0.01(stat)±0.23(syst) for non-single-diffractive events, higher than predicted by commonly used models. The relative increase in charged-particle multiplicity from √s=0.9 to 7 TeV is [66.1±1.0(stat)±4.2(syst)]%. The mean transverse momentum is measured to be 0.545±0.005(stat)±0.015(syst)  GeV/c. The results are compared with similar measurements at lower energies

First measurement of hadronic event shapes in pp collisions at s=7 TeV

Hadronic event shapes have been measured in proton?proton collisions at ?s = 7 TeV, with a data sample collected with the CMS detector at the LHC. The sample corresponds to an integrated luminosity of 3.2 pb?1. Event-shape distributions, corrected for detector response, are compared with five models of QCD multijet production.We wish to congratulate our colleagues in the CERN accelerator departments for the excellent performance of the LHC machine. We thank the technical and administrative staff at CERN and other CMS institutes, and acknowledge support from: FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland, ME, and HIP (Finland); CEA and CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (United Kingdom); DOE and NSF (USA). Individuals have received support from the Marie-Curie programme and the European Research Council (European Union); the Leventis Foundation; the A.P. Sloan Foundation; the Alexander von Humboldt Foundation; the Associazione per lo Sviluppo Scientifico e Tecnologico del Piemonte (Italy); the Belgian Federal Science Policy Office; the Fonds pour la Formation à la Recherche dans l’índustrie et dans l’Ágriculture (FRIA – Belgium); and the Agentschap voor Innovatie door Wetenschap en Technologie (IWT – Belgium)

Observation of Single Top Quark Production in Association with a Z Boson in Proton-Proton Collisions at √s=13 TeV

The observation of single top quark production in association with a Z boson and a quark (tZq) is reported. Events from proton-proton collisions at a center-of-mass energy of 13 TeV containing three charged leptons (either electrons or muons) and at least two jets are analyzed. The data were collected with the CMS detector in 2016 and 2017 and correspond to an integrated luminosity of 77.4fb−1. The increased integrated luminosity, a multivariate lepton identification, and a redesigned analysis strategy improve significantly the sensitivity of the analysis compared to previous searches for tZq production. The tZq signal is observed with a significance well over 5 standard deviations. The measured tZq production cross section is σ(pp→tZq→tℓ+ℓ−q)=111±13(stat)+11−9(syst)  fb, for dilepton invariant masses above 30 GeV, in agreement with the standard model expectation

Search for a low-mass τ−τ+ resonance in association with a bottom quark in proton-proton collisions at √s = 13 TeV

A general search is presented for a low-mass τ−τ+ resonance produced in association with a bottom quark. The search is based on proton-proton collision data at a center-of-mass energy of 13 TeV collected by the CMS experiment at the LHC, corresponding to an integrated luminosity of 35.9 fb−1. The data are consistent with the standard model expectation. Upper limits at 95% confidence level on the cross section times branching fraction are determined for two signal models: a light pseudoscalar Higgs boson decaying to a pair of τ leptons produced in association with bottom quarks, and a low-mass boson X decaying to a τ-lepton pair that is produced in the decay of a bottom-like quark B such that B → bX. Masses between 25 and 70 GeV are probed for the light pseudoscalar boson with upper limits ranging from 250 to 44 pb. Upper limits from 20 to 0.3 pb are set on B masses between 170 and 450 GeV for X boson masses between 20 and 70 GeV