Chordoma is a rare often incurable cancerous os tumour. Here, the authors investigate commuter mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer factor in chordoma.
Patrick S. Tarpey
Sam Behjati
Peter J. Campbell
Selective inhibition of BET bromodomains
Small-scale molecules that perturb chromatin proteins are an emerging focus of current biomedical inquiry. Two groups reporting in this issue have targeted bromodomain-containing BET proteins that demark acetylated lysine residues during gene activation, arriving at prison cell-permeable small molecule compounds with similar structures based on fused triazole-diazepine rings. James Bradner and colleagues study the development of a compound named JQ1. The BET protein BRD4, with 2 bromodomains, is implicated in human squamous cell carcinoma. JQ1 inhibits the growth of BRD4-dependent tumours in mouse models. Alexander Tarakhovsky and colleagues' inhibitor, I-BET, is shown to interfere with the binding of certain BET family members to acetylated histones. Information technology inhibits activation of pro-inflammatory genes in macrophages and has immunomodulatory activity in a mouse model of inflammatory disease.
Panagis Filippakopoulos
Jun Qi
James Due east. Bradner
Article Nature
Dynamics of clonal evolution in myelodysplastic syndromes
Jaroslaw Maciejewski, Seishi Ogawa and colleagues examine the clonal dynamics of myelodysplastic syndromes (MDS) by analyzing whole-exome and targeted sequencing data from a large patient collection. They observe that progression steps previously defined by pathologic criteria are accompanied by singled-out molecular changes, and they show that driver genes can exist classified into molecular subtypes differentially associated with low-risk MDS, high-risk MDS or secondary acute myeloid leukemia.
Hideki Makishima
Tetsuichi Yoshizato
Jaroslaw P Maciejewski
A recurrent kinase domain mutation in PRKCA defines chordoid glioma of the 3rd ventricle
Chordoid glioma is a rare low-form encephalon tumor that originates from the anterior wall of the third ventricle where surgical resection is challenging; the clinical effect of patients later subtotal resection or disease recurrence is poor. Here the authors identify a recurrent missense mutation in PRKCA that may serve as a potential therapeutic target in this uncommon brain cancer.
Benjamin Goode
Gourish Mondal
David A. Solomon
Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma
Hepatocellular-cholangiocarcinoma (H-ChC) is a rare subtype of liver cancer with features of hepatocellular carcinoma and intrahepatic cholangiocarcinoma. Here, the authors utilise whole exome sequencing to highlight the monoclonal origin and stemness of H-ChC, every bit well as substantial intratumoral heterogeneity.
Anqiang Wang
Liangcai Wu
Haitao Zhao
DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma
Deoxyribonucleic acid methylation sequencing and bioinformatic analyses uncover an epigenetic disease spectrum in Ewing sarcoma. These characteristic epigenome patterns correlate with state of differentiation and disease aggressiveness, and pave the way for the development of biomarkers.
Nathan C Sheffield
Gaelle Pierron
Eleni Grand Tomazou
A Children'southward Oncology Group and TARGET initiative exploring the genetic mural of Wilms tumor
Elizabeth Perlman and colleagues use genome-wide sequencing, RNA expression, Deoxyribonucleic acid copy number and methylation analyses to narrate the genomic landscape of Wilms tumors. Their integrated analyses implicate two major classes of genetic changes in Wilms tumors that preserve the progenitor state and/or interrupt normal kidney development.
Samantha Gadd
Vicki Huff
Elizabeth J Perlman
Pediatric not–Down syndrome acute megakaryoblastic leukemia is characterized by singled-out genomic subsets with varying outcomes
Franco Locatelli, Dirk Reinhardt, Ally van den Heuvel-Eibrink, C Michel Zwaan, Maarten Fornerod, Tanja Gruber and colleagues report whole-exome and transcriptome sequencing of acute megakaryoblastic leukemia from pediatric and developed patients without Down syndrome (non-DS-AMKL). They find that pediatric non-DS-AMKL tin be divided into seven subgroups characterized by chimeric oncogenes with cooperating mutations in epigenetic and kinase signaling genes.
Jasmijn D E de Rooij
Cristyn Branstetter
Tanja A Gruber
Loss-of-office mutations in ATP6AP1 and ATP6AP2 in granular jail cell tumors
Granular prison cell tumors (GCTs) are rare tumors that ascend in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes in cellular models.
Fresia Pareja
Alissa H. Brandes
Jorge S. Reis-Filho
The genomic landscape of tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare genetic illness causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA methylation patterns providing a comprehensive genomic landscape.
Katie R. Martin
Wanding Zhou
Jeffrey P. MacKeigan
Reviews
Anaplastic thyroid carcinoma: from clinicopathology to genetics and avant-garde therapies
Although anaplastic thyroid carcinoma (ATC) is a rare form of thyroid cancer, the limited efficacy of conventional treatment options and challenges in histological diagnosis brand this an nearly invariably lethal illness. In this Review, the authors draw the clinical and pathological features of ATC, highlight recent advances in uncovering the genetics and molecular biology of this illness, and discuss both conventional and future handling modalities.
Eleonora Molinaro
Cristina Romei
Rossella Elisei
Turning the tide in myelodysplastic/myeloproliferative neoplasms
This Review describes our current understanding of the relationship betwixt genotype and phenotype in myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) and discusses how this knowledge could be used to inform strategies to develop more effective treatments and improve clinical success.
Michael West. Due north. Deininger
Jeffrey W. Tyner
Eric Solary
Cholangiocarcinoma — evolving concepts and therapeutic strategies
Cholangiocarcinoma, the second most common class of liver cancer after hepatocellular carcinoma, is a heterogeneous disease entity with a nigh-universal poor prognosis. Our understanding of the epidemiology and biology of cholangiocarcinoma is increasing, and importantly, potentially actionable molecular and immunological targets for novel therapies are increasingly being identified. Herein, the evolving developments in the epidemiology, pathogenesis, and management of cholangiocarcinoma are reviewed.
Sumera Rizvi
Shahid A. Khan
Gregory J. Gores
Germline and somatic genetics of osteosarcoma — connecting aetiology, biological science and therapy
Osteosarcoma typically occurs during the adolescent growth spurt and is the most mutual chief cancer of os. Hither, Sharon A. Fell and colleagues hash out how advances in germline and somatic genetics, tumour biology and fauna models have enhanced our understanding of osteosarcoma aetiology and could lead to new therapeutic approaches to treat the affliction.
D. Matthew Gianferante
Lisa Mirabello
Sharon A. Cruel
Molecular subtypes in cancers of the alimentary canal
Gastrointestinal malignancies are amid the nearly common human cancers. Genomic and transcriptomic analyses have identified recurring molecular subtypes that suggest important biological differences. Hither, the authors review the common themes of gastrointestinal cancer subtypes, also every bit how they could exist implemented into clinical do.
Maarten F. Bijlsma
Anguraj Sadanandam
Louis Vermeulen
Rationale for the treatment of Wilms tumour in the UMBRELLA SIOP–RTSG 2016 protocol
The Renal Tumour Study Group of the International Society of Paediatric Oncology (SIOP–RTSG) has adult a new protocol for the diagnosis and treatment of childhood renal tumours, the UMBRELLA SIOP–RTSG 2016 (the UMBRELLA protocol). In this Consensus Statement, members of SIOP–RTSG outline the rationale for the recommendations in the protocol.
Marry M. van den Heuvel-Eibrink
Janna A. Hol
on behalf of the International Society of Paediatric Oncology — Renal Neoplasm Report Group (SIOP–RTSG)
Inflammatory breast cancer biology: the tumour microenvironment is central
Although the aggressive underlying biology of inflammatory breast cancer (IBC) remains largely undefined, the tumour microenvironment (TME) has emerged equally a key correspondent. This Review discusses intrinsic characteristics of IBC, extrinsic features of the TME and intrinsic–extrinsic advice.
Bora Lim
Wendy A. Woodward
Naoto T. Ueno
Using biology to guide the treatment of sarcomas and aggressive connective-tissue tumours
Patients with sarcomas have historically been treated with surgery and/or chemotherapy, although the outcomes achieved with these approaches, particularly in advanced-stage disease, are often disappointing. In this Review, the authors describe the opportunities created by selective use of targeted therapies on the basis of the biological characteristics of individual tumours.
Armelle Dufresne
Mehdi Brahmi
Jean-Yves Blay
Novel insights into mesothelioma biology and implications for therapy
Our agreement of mesothelioma pathobiology has increased dramatically in the past five years, with an improvement in our knowledge of mesothelioma genetics, epigenetics, neoplasm microenvironment and immunobiology. This Review discusses these advances and how they might touch on therapeutic strategies.
Timothy A. Yap
Joachim G. Aerts
Dean A. Fennell
New outlook on the diagnosis, treatment and follow-up of childhood-onset craniopharyngioma
Babyhood-onset craniopharyngioma is a rare embryonic tumour of low-course malignancy that has traditionally been treated by radical resection. Here, Müller and colleagues review recent advances in the molecular pathogenesis of the disease and treatment strategies that could lead to novel targeted therapies and more-limited surgeries.
Hermann L. Müller
Thomas East. Merchant
Juan-Pedro Martinez-Barbera
Therapy-related myeloid neoplasms: when genetics and surroundings collide
Therapy-related myeloid neoplasms occur as a late complication following chemotherapy and/or radiotherapy administered for a primary condition. In this Review, McNerneyet al. discuss contempo studies that have improved our understanding of the aetiology of this affliction.
Megan Due east. McNerney
Lucy A. Godley
Michelle Thou. Le Beau
Electric current and emerging therapies for PNETs in patients with or without MEN1
The treatment of pancreatic neuroendocrine tumours (PNETs) in patients with multiple endocrine neoplasia type 1 (MEN1) is challenging. Hither, Thakker and colleagues discuss the electric current and emerging therapies to treat PNETs in patients with or without MEN1.
Morten Frost
Kate Eastward. Lines
Rajesh V. Thakker
The case for nonsurgical therapy of nonmetastatic penile cancer
Despite the considerable detrimental furnishings associated with penectomy, squamous jail cell carcinoma (SCC) of the penis is most ordinarily treated with surgery. Yet, SCC at other locations tin be successfully managed using chemotherapy and radiation. Here, Jonathan Tward makes a case for organ-sparing treatments for penile cancer, based on data from treatment of SCC at other torso sites.
Jonathan Tward
How to breadbasket an epigenetic insult: the gastric cancer epigenome
Gastric cancer is a mortiferous malignancy and accumulating evidence suggests that epigenetic abnormalities promote carcinogenesis. Hither, the authors summarize the gastric cancer epigenome, highlighting fundamental advances from studies of Deoxyribonucleic acid methylation and histone modifications, and how these findings might lead to therapeutic opportunities.
Nisha Padmanabhan
Toshikazu Ushijima
Patrick Tan
Improving outcomes in loftier-run a risk, nonmetastatic renal cancer: new data and ongoing trials
Outcomes of patients with high-risk, localized renal cancer depend on optimal patient stratification, surgical management, and systemic therapy option. Blick et al. discuss the current knowledge on these topics and provide an overview of interventions that are currently existence investigated in clinical trials.
Chris Blick
Alastair W. S. Ritchie
Grant D. Stewart
Besides many targets, not plenty patients: rethinking neuroblastoma clinical trials
This Perspective provides an update on targeted therapy evolution for neuroblastoma and proposes that clinical trial blueprint needs to exist rethought in gild to provide rigorous, bear witness-based assessment of these new therapies in this rare and frequently mortiferous paediatric tumour.
Jamie I. Fletcher
David S. Ziegler
Murray D. Norris
Role of biomarker tests for diagnosis of neuroendocrine tumours
Circulating and imaging biomarkers could be useful for the diagnosis of neuroendocrine tumours (NETs). Here, Wouter de Herder and colleagues review the latest enquiry on biomarkers in the Cyberspace field and provide clinicians with a comprehensive overview of relevant diagnostic biomarkers.
Johannes Hofland
Wouter T. Zandee
Wouter W. de Herder
Contemporary management of patients with penile cancer and lymph node metastasis
Leone et al. draw management strategies for patients with penile cancer and metastasis to regional lymph nodes. They review the prognostic factors, indications for lymphadenectomy, surgical techniques and the part of systemic chemotherapy, radiotherapy and new targeted and immunotherapeutic approaches.
Andrew Leone
Gregory J. Diorio
Philippe Due east. Spiess
Molecular therapies and precision medicine for hepatocellular carcinoma
Molecular profiling studies are providing novel insights into the biology of hepatocellular carcinoma, although these remain to be translated into novel effective therapies. Notwithstanding, therapeutic advances have been made in the past few years, and farther advancements are expected in the near future, including biomarker-driven treatments and immunotherapies, as discussed in this Review.
Josep M. Llovet
Robert Montal
Richard Southward. Finn
Epigenetic modifiers: activities in renal cell carcinoma
Renal cell carcinomas (RCCs) harbour mutations in genes encoding chromatin modifiers, which take integral roles in genome maintenance and epigenetic regulation. Here, the authors review the mutational landscape and roles of chromatin modifiers as co-drivers in RCC, highlighting therapeutic opportunities.
Aguirre A. de Cubas
W. Kimryn Rathmell
Follow-up of differentiated thyroid cancer – what should (and what should non) be done
Treatment protocols for thyroid cancers range from active surveillance to total thyroidectomy followed past radioiodine remnant ablation. In this Review, the authors hash out the strengths and weaknesses of the surveillance tools and follow-up strategies used by clinicians in the treatment of thyroid cancers.
Livia Lamartina
Giorgio Grani
Martin Schlumberger
The biological science and treatment of Merkel cell carcinoma: current agreement and enquiry priorities
Merkel cell carcinoma (MCC) is a rare and aggressive course of nonmelanoma skin cancer. The availability of immune checkpoint inhibition has improved the outcomes of a subset of patients with MCC, although many unmet needs continue to exist. In this Consensus Argument, the authors summarize developments in our understanding of MCC while also providing consensus recommendations for time to come research.
Paul W. Harms
Kelly L. Harms
on behalf of the International Workshop on Merkel Cell Carcinoma Research (IWMCC) Working Group
NTRK fusion-positive cancers and TRK inhibitor therapy
TRK fusion proteins are pathognomonic in certain rare tumour types and present in a small subset of diverse cancer types, including some mutual cancers; TRK inhibitors take promising efficacy in the handling of these cancers, in a histology-agnostic fashion. In this Review, the biology of TRK signalling and TRK fusions, strategies to target these drivers, the unique rubber profile of TRK inhibitors and mechanisms of and strategies to overcome acquired resistance to these agents are discussed.
Emiliano Cocco
Maurizio Scaltriti
Alexander Drilon
Epigenetics in renal cell cancer: mechanisms and clinical applications
Joosten et al. review the chief epigenetic alterations involved in renal carcinogenesis and their effects on central signalling pathways. The authors as well hash out the utility of epigenetic aberrations as renal cancer biomarkers and their potential as handling targets.
Sophie C. Joosten
Kim Grand. Smits
Manon van Engeland
Illness Primers & PrimeViews
Medulloblastoma
This Primer by Pfister and colleagues reviews the molecular genetics, diagnosis and direction of medulloblastoma and touches upon the quality of life of patients and future outlooks.
Paul A. Northcott
Giles W. Robinson
Stefan 1000. Pfister
Medulloblastoma
This PrimeView accompanies the Primer on Medulloblastoma by Pfister et al., and describes the quality of life issues faced by patients with this disease.
Ewing sarcoma
Ewing sarcoma is a malignant bone or soft-tissue neoplasm that mainly affects children, adolescents and young adults. This Primer describes the key characteristic molecular features of and the remaining unanswered research questions in Ewing sarcoma.
Thomas M. P. Grünewald
Florencia Cidre-Aranaz
Uta Dirksen
Ewing sarcoma
Ewing sarcoma is a malignant os or soft-tissue neoplasm that mainly arises in children, adolescents and immature adults. This PrimeView highlights the mechanisms underlying this rare cancer.
Rhabdomyosarcoma
Rhabdomyosarcoma (RMS) is the well-nigh common soft tissue sarcoma in children. This Primer highlights RMS epidemiology and disease mechanisms and presents the state of the art in clinical care, including diagnostics, run a risk-based disease management and prevention of late treatment effects.
Stephen 10. Skapek
Andrea Ferrari
Douglas S. Hawkins
Rhabdomyosarcoma
This illustrated PrimeView highlights rhabdomyosarcoma epidemiology, disease mechanisms, diagnosis, gamble-based disease management, and prevention of late treatment furnishings.
Chronic lymphocytic leukaemia
Research on the biology of chronic lymphocytic leukaemia (CLL) — a malignancy of CD5+ B cells — has profoundly enhanced the identification of patients who are at high risk of illness progression and the treatment of patients with drugs that target the distinctive features of CLL. This Primer highlights these advances, also as the epidemiology, genetics and immunobiology of CLL.
Thomas J. Kipps
Freda K. Stevenson
Kanti Rai
Chronic lymphocytic leukaemia
Chronic lymphocytic leukaemia (CLL) is a B cell malignancy. This PrimeView focuses on the mechanisms underlying the development of CLL, including genetic alterations, B cell receptor signalling and interactions within the tumour microenvironment.
Kaposi sarcoma
Kaposi sarcoma is a rare cancer that typically presents with multiple pigmented pare lesions, merely may accept an ambitious course characterised by lesion ulceration, oedema and visceral organ involvement. This Primer describes the epidemiology, clinical features, cellular mechanisms and management of the principal forms of Kaposi sarcoma.
Ethel Cesarman
Blossom Damania
Denise Whitby
Kaposi sarcoma
This illustrated PrimeView provides an overview of the epidemiology, clinical features, cellular mechanisms and management of the main forms of Kaposi sarcoma.
Image credit: Simon Bradbrook/Springer Nature Limited
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