ALK7 expression in prolactinoma is associated with reduced prolactin and increased proliferation
Prolactinoma represents the most frequent hormone-secreting pituitary tumours. These tumours appear in a benign form, but some of them can reach an invasive and aggressive stage through an unknown mechanism. Discovering markers to identify prolactinoma proliferative and invading character is therefore crucial to develop new diagnostic/prognostic strategies. Interestingly, members of the TGFβ-Activin/BMP signalling pathways have emerged as important actors of pituitary development and adult function, but their role in prolactinomas remains to be precisely determined. Here, using a heterotopic allograft model derived fr...
Source: Endocrine-Related Cancer - July 16, 2018 Category: Endocrinology Authors: Principe, M., Chanal, M., Karam, V., Wierinckx, A., Mikaelian, I., Gadet, R., Auger, C., Raverot, V., Jouanneau, E., Vasiljevic, A., Hennino, A., Raverot, G., Bertolino, P. Tags: Research Source Type: research
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors
This study demonstrates that patients with PanNET approaching the cut-off diameter of 2.8 cm should be operated. Mutations in exon 3, especially of codons 161/167 are at enhanced risk for metastatic PanNETs. Survival is significantly longer in operated non-metastatic VHL-PanNETs. (Source: Endocrine-Related Cancer)
Source: Endocrine-Related Cancer - July 16, 2018 Category: Endocrinology Authors: Krauss, T., Ferrara, A. M., Links, T. P., Wellner, U., Bancos, I., Kvachenyuk, A., Villar Gomez de las Heras, K., Yukina, M. Y., Petrov, R., Bullivant, G., von Duecker, L., Jadhav, S., Ploeckinger, U., Welin, S., Schalin-Jantti, C., Gimm, O., Pfeifer, M., Tags: Research Source Type: research
The impact of transcription on metabolism in prostate and breast cancers
Metabolic dysregulation is regarded as an important driver in cancer development and progression. The impact of transcriptional changes on metabolism has been intensively studied in hormone-dependent cancers, and in particular, in prostate and breast cancer. These cancers have strong similarities in the function of important transcriptional drivers, such as the oestrogen and androgen receptors, at the level of dietary risk and epidemiology, genetics and therapeutically. In this review, we will focus on the function of these nuclear hormone receptors and their downstream impact on metabolism, with a particular focus on lipi...
Source: Endocrine-Related Cancer - July 16, 2018 Category: Endocrinology Authors: Poulose, N., Mills, I. G., Steele, R. E. Tags: Review Source Type: research
Penetrance of phaeochromocytoma in RET G533C carriers differs between South America and Europe
(Source: Endocrine-Related Cancer)
Source: Endocrine-Related Cancer - July 16, 2018 Category: Endocrinology Authors: Maciel, R. M. B., Bim, L. V., Camacho, C. P., Cerutti, J. M. Tags: Letter to the Editor Source Type: research
Paediatric pancreatic neuroendocrine tumours in von Hippel-Lindau disease
(Source: Endocrine-Related Cancer)
Source: Endocrine-Related Cancer - July 16, 2018 Category: Endocrinology Authors: OToole, S. M., Sahdev, A., Bhattacharya, S., Feakins, R., Gevers, E. F., Drake, W. M. Tags: Letter to the Editor Source Type: research
65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents
As medicine is poised to be transformed by incorporating genetic data in its daily practice, it is essential that clinicians familiarise themselves with the information that is now available from more than 50 years of genetic discoveries that continue unabated and increase by the day. Endocrinology has always stood at the forefront of what is called today ‘precision medicine’: genetic disorders of the pituitary and the adrenal glands were among the first to be molecularly elucidated in the 1980s. The discovery of two endocrine-related genes, GNAS and RET, both identified in the late 1980s, contributed greatly i...
Source: Endocrine-Related Cancer - July 9, 2018 Category: Endocrinology Authors: Goudie, C., Hannah-Shmouni, F., Kavak, M., Stratakis, C. A., Foulkes, W. D. Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma
Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with >35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical ...
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Neumann, H. P., Young, W. F., Krauss, T., Bayley, J.-P., Schiavi, F., Opocher, G., Boedeker, C. C., Tirosh, A., Castinetti, F., Ruf, J., Beltsevich, D., Walz, M., Groeben, H.-T., von Dobschuetz, E., Gimm, O., Wohllk, N., Pfeifer, M., Lourenco, D. M., Pecz Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: Exploiting insights on the RET receptor for personalized cancer medicine
The focus of precision cancer medicine is the use of patient genetic signatures to predict disease occurrence and course and tailor approaches to individualized treatment to improve patient outcomes. The rearranged during transfection (RET) receptor tyrosine kinase represents a paradigm for the power of personalized cancer management to change cancer impact and improve quality of life. Oncogenic activation of RET occurs through several mechanisms including activating mutations and increased or aberrant expression. Activating RET mutations found in the inherited cancer syndrome multiple endocrine neoplasia 2 permit early di...
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Mulligan, L. M. Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: Classification of endocrine tumors in the age of integrated genomics
The classification of human cancers represents one of the cornerstones of modern pathology. Over the last century, surgical pathologists established the current taxonomy of neoplasia using traditional histopathological parameters, which include tumor architecture, cytological features and cellular proliferation. This morphological classification is efficient and robust with high reproducibility and has served patients and health care providers well. The most recent decade has witnessed an explosion of genome-wide molecular genetic and epigenetic data for most cancers, including tumors of endocrine organs. The availability ...
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Giordano, T. J. Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: Treatment of pituitary tumors with temozolomide: an update
Temozolomide is an alkylating chemotherapeutic agent used in malignant neuroendocrine neoplasia, melanoma, brain metastases and an essential component of adjuvant therapy in the treatment of glioblastoma multiforme and anaplastic astrocytoma. Since 2006, it has been used for the treatment of pituitary carcinomas and aggressive pituitary adenomas. Here, we discuss the current indications and results of temozolomide therapy in pituitary tumors, as well as frequently asked questions regarding temozolomide treatment, duration of therapy, dosage, tumor recurrence and resistance. (Source: Endocrine-Related Cancer)
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Syro, L. V., Rotondo, F., Ortiz, L. D., Kovacs, K. Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer
Hereditary cancer predisposition syndromes are associated with germline mutations that lead to increased vulnerability for an individual to develop cancers. Such germline mutations in tumour suppressor genes, oncogenes and genes encoding for proteins essential in DNA repair pathways and cell cycle control can cause overall chromosomal instability in the genome and increase risk in developing cancers. Gene correction of these germline mutations to restore normal protein functions is anticipated as a new therapeutic option. This can be achieved through disruption of gain-of-function pathogenic mutation, restoration of loss-o...
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Tan, Z. Y., Huang, T., Ngeow, J. Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine
An average of 10% of all cancers (range 1–40%) are caused by heritable mutations and over the years have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade – one of the most critical growth-promoting signaling pathways. Clinically, individuals with germline PTEN mutations have diverse phenotypes and fall under the u...
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Yehia, L., Eng, C. Tags: Thematic Review Source Type: research
65 YEARS OF THE DOUBLE HELIX: Could Watson and Crick have envisioned the true impact of their discovery?
This article discusses how unraveling the structure of DNA has advanced medical treatment, particularly for patients with rare diseases. In addition, each new scientific discovery brings with it the emotion of hope for improved diagnosis and treatment, as well as enhanced outcomes and increased longevity for patients facing a life-long disease. (Source: Endocrine-Related Cancer)
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Sussman, I. Tags: Editorials Source Type: research
65 YEARS OF THE DOUBLE HELIX: Its all in the DNA: understanding and managing endocrine neoplasms
(Source: Endocrine-Related Cancer)
Source: Endocrine-Related Cancer - July 6, 2018 Category: Endocrinology Authors: Foulkes, W. D., Bertherat, J., Eng, C. Tags: Editorials Source Type: research
Characterising the adipose-inflammatory microenvironment in male breast cancer
We examined the microenvironment of archival and contemporary cohorts of MBC, diagnosed 1940–1970 and 1998–2006, respectively, with two cohorts of, archival and contemporary gynaecomastia, diagnosed 1940–1979 and 1996–2011, respectively, serving as controls. We quantified adipocytes, crown-like structures (CLS) and the presence of CD8, α smooth muscle actin (αSMA) and CD68+ macrophages in both cohorts, and determined how these affected survival, in the contemporary MBC cohort. In both MBC cohorts, mean adipocyte diameter was larger in the distant stroma compared with stroma close to the ...
Source: Endocrine-Related Cancer - May 31, 2018 Category: Endocrinology Authors: Lees, T., Cullinane, A., Condon, A., Shabaan, A. M., Humphries, M. P., Speirs, V. Tags: Research Source Type: research
