scholarly journals Precision Medicine in Phaeochromocytoma and Paraganglioma

2021 ◽  
Vol 11 (11) ◽  
pp. 1239
Author(s):  
Bettina Winzeler ◽  
Benjamin G. Challis ◽  
Ruth T. Casey

Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology.

2019 ◽  
Vol 48 (1) ◽  
pp. 90
Author(s):  
Claire Saadeh ◽  
David Bright ◽  
Danielle Rustem

<p>The objective of this review is to provide an overview of the components, process and resources available to apply precision medicine strategies to drug therapy in cancer medicine, with an emphasis on oncology pharmacy practice. Precision medicine initiatives in oncology take into account individual variability in genes, environment and lifestyle factors. Genomic assays of patient tumors is now the standard of care in oncology and recommendations for targeted drug therapies are often formulated by interprofessional teams. Pharmacogenomics (PGx) is a component of precision medicine based on polymorphisms that impact medication selection and/or dosing. Several oncolytic agents used in the treatment of cancer and supportive care have pharmacogenomic-based dosing recommendations to minimize potential toxicities. Several resources are reviewed here to guide treatment options in oncology as they relate to somatic mutations and PGx. Examples include: OncoKB is a precision oncology knowledge base that offers evidence-based information for somatic mutations. The Clinical Pharmacogenetics Implementation Consortium provides PGx-based guidelines for several oncolytic therapies used to treat cancer and for supportive care. Pharmacists can be integral members of the interprofessional team in many practicesettings in precision medicine. Involvement can include membership in molecular tumor boards, PGx dosing services and provide patient education.</p><p><strong>Conclusion. </strong>Precision medicine is a rapidly evolving field in oncology that requires an interprofessional approach of drug therapy experts.</p>


Cancers ◽  
2021 ◽  
Vol 13 (17) ◽  
pp. 4324
Author(s):  
Karin P. S. Langenberg ◽  
Eleonora J. Looze ◽  
Jan J. Molenaar

Over the last years, various precision medicine programs have been developed for pediatric patients with high-risk, relapsed, or refractory malignancies, selecting patients for targeted treatment through comprehensive molecular profiling. In this review, we describe characteristics of these initiatives, demonstrating the feasibility and potential of molecular-driven precision medicine. Actionable events are identified in a significant subset of patients, although comparing results is complicated due to the lack of a standardized definition of actionable alterations and the different molecular profiling strategies used. The first biomarker-driven trials for childhood cancer have been initiated, but until now the effect of precision medicine on clinical outcome has only been reported for a small number of patients, demonstrating clinical benefit in some. Future perspectives include the incorporation of novel approaches such as liquid biopsies and immune monitoring as well as innovative collaborative trial design including combination strategies, and the development of agents specifically targeting aberrations in childhood malignancies.


2018 ◽  
Author(s):  
Betul Aydin Buyruk ◽  
Goknur Yorulmaz ◽  
Belgin Efe ◽  
Bartu Badak ◽  
Deniz Arik ◽  
...  

Author(s):  
Alexander Meisel

Until recently, the clinical management of cancer heavily relied on anatomical and histopathological criteria, with ad hoc guidelines directing the therapeutic choices in specific indications. In the last years, the development and therapeutic implementation of novel anticancer therapies significantly improved the clinical outcome of cancer patients. Nonetheless, such cutting-edge approaches revealed the limitation of the one-size-fits-all paradigm. The newly discovered molecular targets can be exploited either as bona fide targets for subsequent drug development, or as tools to precision medicine, in the form of prognostic and/or predictive biomarkers. This article provides an overview of some of the most recent advances in precision medicine in oncology, with a focus on novel tissue-agnostic anticancer therapies. The definition and implementation of biomarkers and companion diagnostics in clinical trials and clinical practice are also discussed, as well as the changing landscape in clinical trial design.


2020 ◽  
Vol 21 (9) ◽  
pp. e431-e443 ◽  
Author(s):  
Lisa Bodei ◽  
Heiko Schöder ◽  
Richard P Baum ◽  
Ken Herrmann ◽  
Jonathan Strosberg ◽  
...  

Apmis ◽  
2021 ◽  
Author(s):  
Antonio Travaglino ◽  
Antonio Raffone ◽  
Annarita Gencarelli ◽  
Carola Caldarelli ◽  
Marcello Granata ◽  
...  

2021 ◽  
pp. 1-5
Author(s):  
Zhen Zhang ◽  
Chaozhao Liang

Prostatic stromal tumor of uncertain malignant potential (STUMP), characterized by an atypical, unique stromal proliferation of the prostate, is often difficult to be differentiated from other nonepithelial neoplastic lesions. We present a unique case of recurrent STUMP after transurethral resection of the prostate (TURP) with concurrent prostatic adenocarcinoma. Patients diagnosed with prostatic STUMP should be followed up closely, for it may recur and invade adjacent organs after TURP shortly. Concurrent prostatic adenocarcinoma can be found in STUMP patients, and there may be some potential mechanisms which promote the simultaneous occurrence of the 2 tumors.


2011 ◽  
Vol 64 (6) ◽  
pp. 485-489 ◽  
Author(s):  
Clinton Boyd ◽  
W Glenn McCluggage

BackgroundUterine leiomyomas are extremely common in surgical pathology practice and in the vast majority there are no issues in diagnosis. Progestogens are widely prescribed drugs for a variety of indications, including abnormal uterine bleeding, and are often given to women with leiomyomas but the pathological features of leiomyomas treated with progestogens are poorly described.MethodsWe report the pathological features in eight cases of uterine leiomyomas in women who had been treated with oral progestogens or a progestogen-containing intrauterine device; all cases were received in consultation because the features raised concern for leiomyosarcoma, smooth muscle tumour of uncertain malignant potential or a benign leiomyoma with unusual features. Additionally, we reviewed a series of cases of uterine leiomyomas (n=99) in women who exhibited progestogenic effects in the endometrium.ResultsThe morphological features in the consult cases, which were widespread and marked and which varied somewhat from case to case, included small and/or large areas of infarct-type necrosis (sometimes mimicking coagulative tumour cell necrosis) with surrounding increased cellularity, mitotic activity, nuclear pyknosis, cytoplasmic eosinophilia, epithelioid morphology, stromal oedema, haemorrhage, and myxoid change and infiltration by CD56 positive granulated lymphocytes. Sometimes the features resulted in an almost deciduoid appearance. Similar features were present to a minor degree in significant numbers of the additional series of cases.ConclusionsPathologists should be aware of these progestogen-associated features when reporting uterine leiomyomas whether or not the clinician has indicated that the woman is taking progestogens since otherwise a diagnosis of leiomyosarcoma or smooth muscle tumour of uncertain malignant potential may be rendered. Useful features in suggesting a benign leiomyoma, in addition to recognition of the morphological features described which, in combination, are characteristic of progestogens, are the lack of true nuclear atypia and the low mitotic activity away from the abnormal areas.


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