(The Translational Genomics Research Institute) An international team of scientists, including those at the Translational Genomic Research Institute, have discovered new avenues of potential treatments for a rare and deadly cancer known as adrenocortical carcinoma (ACC). In a study published today in the scientific journal Cancer Cell, researchers conducted an extensive genomic profile of ACC, a cancer of the adrenal glands, located above the kidneys. Current treatment options for ACC have not changed in decades and are not curative.

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Publication date: Available online 20 February 2018Source: Molecular and Cellular EndocrinologyAuthor(s): Carmen Ruggiero, Mabrouka Doghman-Bouguerra, Cyril Ronco, Rachid Benhida, Stéphane Rocchi, Enzo LalliAbstractMany types of cancer cells present constitutively activated ER stress pathways because of their significant burden of misfolded proteins coded by mutated and rearranged genes. Further increase of ER stress by pharmacological intervention may shift the balance towards cell death and can be exploited therapeutically. Recent studies have shown that an important component in the mechanism of action of mitotan…

In conclusion, sex, BMI and age are associated with the incidence and survival rates for cancers. These results could be used to supplement precision and personalized medicine.
PMID: 29956810 [PubMed – as supplied by publisher]

Source: Oncology ReportsCategory: Cancer & Oncology Tags: Oncol Rep Source Type: research

: Metastatic adrenocortical carcinoma (ACC) is an aggressive malignancy with a poor prognosis and limited therapeutic options. A subset of ACC is due to Lynch syndrome, an inherited tumor syndrome resulting from germline mutations in mismatch repair (MMR) genes. It has been demonstrated that several cancers characterized by MMR-deficiency are sensitive to immune checkpoint inhibitors that target PD-1. Here, we provide the first report of PD-1 blockade with pembrolizumab in a patient with Lynch syndrome and progressive cortisol-secreting metastatic ACC.

Source: Seminars in OncologyCategory: Cancer & Oncology Authors: Source Type: research

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Telomere maintenance, most commonly achieved by telomerase activation through induction of the telomerase reverse transcriptase (TERT) gene, is required for cell immortalization, a hallmark of cancer. Adrenocortical carcinoma (ACC) is an endocrine tumor for which TERT promoter mutations and telomerase activation have been reported. The present study assessed alterations of the TERT gene locus and telomere length in relation to clinical characteristics in ACC. In total, 38 cases of ACC with known TERT promoter mutational status were included. TERT promoter methylation densities were assessed by pyroseq…

Source: International Journal of Molecular MedicineCategory: Molecular Biology Authors: Tags: Int J Mol Med Source Type: research

We present the case of a 68-year-old male with a confirmed diagnosis of Lynch syndrome secondary to a germlineMSH2 mismatch-repair gene-mutation who presented with 2  months history of non-specific abdominal pain. After imaging work-up, the patient was found to have a right upper quadrant, retroperitoneal mass. Biochemical tests were without any evidence of a hormonally active process. Fine needle aspiration of the mass revealed a poorly differentiated carcinom a of unknown etiology. The lesion was resected and found to be consistent with ectopic ACC with an associatedMSH2 mutation.

Source: Familial CancerCategory: Cancer & Oncology Source Type: research

Altered expression of Solute Carrier Family 12 Member 7 (SLC12A7) is implicated to promote malignant behavior in multiple cancer types through an incompletely understood mechanism. Recent studies have shown re…

Source: Cell Communication and SignalingCategory: Molecular Biology Authors: Tags: Research Source Type: research

Authors: Manso J, Pezzani R
Adrenocortical carcinoma (ACC) is a rare malignancy with poor prognosis. It has been undergone to in-depth clinical and laboratory investigations, with the help of the most important research groups of all over the world. Nonetheless the cure for this kind of neoplasia is not right around the corner, given its complexity and multi-faceted feature, that lead researchers to think at “one person one ACC”. Currently total resection is the most concrete option for ACC patients, whenever possible. Although years are still necessary for an effective treatment, indubitably the…

Source: Minerva EndocrinologicaCategory: Endocrinology Tags: Minerva Endocrinol Source Type: research

Conclusion: The presence of metastases was an independent prognostic factor. The Wieneke index was the most accurate in predicting clinical outcomes in younger children.Horm Res Paediatr

Adrenocortical carcinomas are rather rare endocrine tumors that often have a poor prognosis. The reduced survival rate associated with these tumors is due to their aggressive biological behavior, combined with the scarcity of effective treatment options that are currently available. The recent identification of the genomic alterations present in ACC have provided further molecular mechanisms to develop consistent strategies for the diagnosis, prevention of progression and treatment of advanced ACCs. Taken together, molecular and genomic advances could be leading the way to develop personalized medicine in…

Source: European Journal of EndocrinologyCategory: Endocrinology Authors: Tags: Eur J Endocrinol Source Type: research

Adrenal masses are approximately twice as prevalent in the familial adenomatous polyposis population as in previous studies of the general population. Nearly all mutations led to truncation of the APC gene; however, there was no genetic signature to help predict those at increased risk. The majority of adrenal lesions identified were of benign etiology; thus, an intensive management or surveillance strategy with imaging screening is likely unwarranted. See Video Abstract at http://links.lww.com/DCR/A507.

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