2,443 results match your criteria: "Endocrine-related cancer[Journal]"

Bone is a common and debilitating site for metastatic cancer cell expansion. Skeletal metastasis is a multistage process, with primary stages of circulating tumour cells, progressing to a dormant state in vasculature and bone marrow niches, followed by tumorigenic reactivation, proliferation, and finally bone destruction. The frequency of bone metastasis is reconciled in Paget's "seed and soil" hypothesis, where a conducive microenvironment (bone niche) is essential for cancer cell colonisation.

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Non-functioning pituitary adenomas (NFPAs) are a highly heterogeneous group and often shows invasion, but few studies have explored the invasion mechanism and biomarkers for specific subtypes. This study was designed to describe the role of HIF1α and its downstream genes in specific subtypes of NFPAs. Specimens were classified into two subtypes of NFPAs: 46 null cell adenomas (28 invasive, 18 non-invasive) and 46 oncocytomas (11 invasive, 35 non-invasive).

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Mechanisms of resistance to RET-directed therapies.

Endocr Relat Cancer

December 2024

R Clifton-Bligh, Endocrinology, Royal North Shore Hospital, Sydney, 2065, Australia.

The association between RET and multiple endocrine neoplasia type 2 was established in 1993 and remains one of the very few oncogenes for which distinct phenotypes (medullary thyroid cancer or phaeochromocytoma) are associated with the same hot-spot variants occurring either in germline or somatic DNA. Somatic RET fusion events have also been described in several cancers, including papillary thyroid cancer, non-small cell lung cancer, breast cancer, salivary gland cancer and pancreatic cancer. Highly selective RET inhibitors have improved outcomes in RET-altered cancers and have been well tolerated.

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Primary tumour resection in metastasised adrenocortical carcinoma: a systematic review.

Endocr Relat Cancer

November 2024

T van Ginhoven, Department of Surgical Oncology and Gastrointestinal Surgery, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands.

Up to 30% of adrenocortical carcinoma (ACC) patients have metastasised disease upon initial presentation and systemic treatments currently fail to sufficiently improve survival. Palliative primary tumour resection can be considered for symptomatic relief, but its potential survival benefit remains a topic of debate. This systematic review therefore aims to assess the effect of primary tumour resection on overall survival in patients with metastatic ACC.

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Article Synopsis
  • - Midgut neuroendocrine tumors (NET) are linked to enterochromaffin cells and have shown a unique fecal microbial signature in patients, indicating an altered gut microbiome compared to healthy controls.
  • - A study involving sequencing of fecal samples from 60 NET patients and 20 matched controls revealed specific differences in microbial communities, with 16 species and 18 pathways significantly varying between groups, yet no notable differences in microbial composition were found between patients with and without carcinoid syndrome (CS).
  • - The research identifies potential microbial signatures that could serve as biomarkers for diagnosing midgut NET and distinguishing between patients with and without CS, with high accuracy in predicting presence based on microbial pathways and species.
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Association of serum steroids with survival in metastatic hormone-sensitive prostate cancer.

Endocr Relat Cancer

November 2024

C Sweeney, South Australian Immunogenomics Cancer Institute,, University of Adelaide, Adelaide, Australia.

The CHAARTED study showed that adding docetaxel (Doc) to androgen deprivation therapy (ADT) in men initiating treatment for metastatic hormone sensitive prostate cancer (mHSPC) prolongs survival, particularly in high-volume disease. Androgens drive both mHSPC and metastatic castration resistant prostate cancer (mCRPC). Lower nadir serum testosterone (T) concentrations are associated with better outcomes in men treated with ADT for biochemical relapse, while higher androgens at mCRPC are associated with better prognosis and increased benefit from abiraterone.

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Inhibiting the activity of the androgen receptor (AR) is the cornerstone treatment for advanced prostate cancer. AR-targeted therapies are highly effective in slowing disease progression but are not curative. Failure of these therapies results in a disease state termed castration-resistant prostate cancer, which is associated with significant patient morbidity and mortality.

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The breast epithelium, vital for mammary gland function, is influenced by oestrogen through the oestrogen receptor (ER) signalling pathway. Luminal breast cancer (BC), characterised by ER expression, comprises the majority of all BCs and presents significant clinical challenges due to therapy resistance and recurrence. Despite advancements in understanding luminal disease, improving long-term survival and reducing relapse of BC patients by predicting therapy efficacy and understanding resistance mechanisms remain critical challenges.

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Multiple endocrine neoplasia type 2 (MEN2) is the collective term for two distinct types of autosomal dominantly inherited neuroendocrine neoplasm syndromes: MEN2A and MEN2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (MTC) (99%) and phaeochromocytoma (50%) and also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as four separate syndromes: classic MEN2A, MEN2A with cutaneous lichen amyloidosis, MEN2A with Hirschsprung's disease and familial MTC.

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Abstract: Rearranged during transfection (RET) is a developmentally important receptor tyrosine kinase that has been identified as an oncogenic driver in a number of cancers. Activating RET point mutations gives rise to the inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2), characterized by medullary thyroid carcinoma. There are two MEN2 subtypes, MEN2A and MEN2B, that differ in tumour aggressiveness and the associated constellation of other disease features, which are caused by distinct patterns of RET amino acid substitution mutations.

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The molecular biology of pituitary neuroendocrine tumors (PitNETs) revealed few recurrent mutations and extensive chromosomal alterations, with the latter being the driving force in a subset of these lesions. Addressing the need for an easily applicable diagnostic tool, we conducted a retrospective study of 61 PitNETs operated at a tertiary care center. All cases were subtyped according to the 2022 WHO Classification of Endocrine Tumors.

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The rearranged during transfection (RET) receptor tyrosine kinase is physiologically stimulated by growth factors belonging to the glial cell line-derived neurotrophic factor family and by the growth differentiation factor-15 cytokine. RET plays a critical role in normal development as well as in various human tumors and developmental disorders. This review focuses on mechanisms of RET signaling and their alterations in human diseases.

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BRAFK601E is an uncommon mutation typically found in encapsulated follicular-patterned thyroid tumors. Previous studies on BRAFK601E-positive thyroid tumors were conducted before the implementation of the non-invasive follicular neoplasm with papillary-like nuclear features (NIFTP) diagnosis. This study aimed to characterize BRAFK601E-positive tumors and evaluate changes in the diagnosis and management of these patients after the introduction of NIFTP.

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Genotype/phenotype correlations in multiple endocrine neoplasia type 2.

Endocr Relat Cancer

December 2024

Department of Medical Genetics and Genomics, Medical Specialties Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Abstract: Multiple endocrine neoplasia type 2 (MEN 2) is a rare hereditary endocrine tumor syndrome caused by mutations in the rearranged during transfection (RET) gene. MEN 2 is divided into two main entities, MEN 2A and MEN 2B, both of which present with medullary thyroid cancer (MTC) in approximately 100% of cases and pheochromocytoma in 50% of cases. Specific RET mutations are associated with a risk of early onset of MTC, from 1 year of age (highest risk) to 5 years of age (high risk).

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Article Synopsis
  • - Adrenocortical carcinoma (ACC) is a rare, aggressive cancer with complicated diagnosis, high recurrence rates, and poor prognosis, prompting research into potential biomarkers.
  • - The study focused on miRNA processing genes, analyzing expression levels using data from TCGA and GTEx, finding that AGO2 was significantly overexpressed in ACC compared to normal and benign tissues.
  • - Higher levels of AGO2 correlated with worse overall survival in ACC patients, establishing it as a promising diagnostic and prognostic biomarker for this cancer type.
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Measurement of thyroglobulin in fine-needle aspirates (FNA-Tg) is useful for the diagnosis of lymph node metastasis in thyroid carcinoma; however, the cutoff value remains unclear, particularly for the differential diagnosis of neck masses. To evaluate the cutoff value of FNA-Tg, we conducted a retrospective study of patients with neck masses outside the thyroid who pre-operatively underwent both FNAC and FNA-Tg, followed by pathological examination at our hospital from October 2015 to September 2020. The cutoff value of FNA-Tg was calculated using the receiver operating characteristic curve.

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Hormone therapy (HT) to treat prostate cancer is reported to cause adverse changes in body composition. Clinically, interpatient body composition changes are heterogeneous, but the biological and clinical determinants of body composition toxicity are unknown. Herein, we test the hypothesis that inherited polymorphisms in steroidogenic genes are associated with differential changes in body composition after HT.

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Differentiated thyroid cancer in older adults has been linked to alterations in the mutational landscape and tumor immune cell infiltration that create a tumor-permissive microenvironment. We sought to determine the impact of age on genomic alterations and immune cell composition in papillary thyroid cancer (PTC). Genomic alterations, immune cell composition, and clinical data were obtained using The Cancer Genome Atlas and computational immunogenomic analyses.

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Chromosomal instability (CIN), characterized by fluctuations in chromosome number or structure within cells, stands out as a hallmark of cancer, enabling tumors to thrive in hostile conditions. CIN serves as a driver of genetic diversity, giving rise to clonal heterogeneity (CH). Emerging evidence points to a potential correlation between CIN, CH, and the prognosis of breast cancer (BC) patients, especially in tumors exhibiting overexpression of the human epidermal growth factor receptor 2 (HER2+).

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Cushing syndrome from an ACTH-producing pheochromocytoma or paraganglioma: structured review of 94 cases.

Endocr Relat Cancer

November 2024

Division of Endocrinology and Metabolism, Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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Association between pembrolizumab-related thyroid adverse events and outcomes in early-stage triple-negative breast cancer patients.

Endocr Relat Cancer

November 2024

Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Article Synopsis
  • Pembrolizumab-related thyroid dysfunction may lead to better outcomes in early-stage triple-negative breast cancer (TNBC) patients undergoing preoperative therapy.
  • The study compared outcomes (pathological complete response (pCR) and event-free survival (EFS)) among patients with and without this thyroid dysfunction, discovering that no significant differences in pCR and EFS were observed overall.
  • Notably, patients who developed overt thyrotoxicosis had a higher pCR rate (85.7%) compared to others (42.1%), suggesting a potential link between this specific thyroid condition and improved treatment response.
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Telomerase reverse transcriptase promoter mutation (pTERT MT) promotes human carcinogenesis via aberrant expression of telomerase reverse transcriptase (TERT). However, the tumorigenic impact of TERT expression independent of pTERT MT remains unclear despite numerous mechanisms of TERT being suggested. To tackle this issue, we employed comprehensive bioinformatics to assess biological variations noticed among different TERT expression mechanisms.

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