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  • 1
    Online Resource
    Online Resource
    TERT structural rearrangements in metastatic pheochromocytomas
    Bioscientifica ; 2018
    In:  Endocrine-Related Cancer Vol. 25, No. 1 ( 2018-01), p. 1-9
    Details
    In: Endocrine-Related Cancer, Bioscientifica, Vol. 25, No. 1 ( 2018-01), p. 1-9
    Abstract: Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors for which the genetic and clinicopathological features of metastatic progression remain incompletely understood. As a result, the risk of metastasis from a primary tumor cannot be predicted. Early diagnosis of individuals at high risk of developing metastases is clinically important and the identification of new biomarkers that are predictive of metastatic potential is of high value. Activation of TERT has been associated with a number of malignant tumors, including PC/PGL. However, the mechanism of TERT activation in the majority of PC/PGL remains unclear. As TERT promoter mutations occur rarely in PC/PGL, we hypothesized that other mechanisms – such as structural variations – may underlie TERT activation in these tumors. From 35 PC and four PGL, we identified three primary PCs that developed metastases with elevated TERT expression, each of which lacked TERT promoter mutations and promoter DNA methylation. Using whole genome sequencing, we identified somatic structural alterations proximal to the TERT locus in two of these tumors. In both tumors, the genomic rearrangements led to the positioning of super-enhancers proximal to the TERT promoter, that are likely responsible for the activation of the normally tightly repressed TERT expression in chromaffin cells
    Type of Medium: Online Resource
    ISSN: 1351-0088 , 1479-6821
    URL: Article
    DOI: 10.1530/ERC-17-0306
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2018
    detail.hit.zdb_id: 2010895-3
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  • 2
    Online Resource
    Online Resource
    Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours
    Oxford University Press (OUP) ; 2017
    In:  European Journal of Endocrinology Vol. 176, No. 5 ( 2017-05), p. 635-644
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 176, No. 5 ( 2017-05), p. 635-644
    Abstract: Familial pituitary tumour syndromes (FPTS) account for 5% of pituitary adenomas. Multi-gene analysis via next-generation sequencing (NGS) may unveil greater prevalence and inform clinical care. We aimed to identify germline variants in selected patients with pituitary adenomas using a targeted NGS panel. Design We undertook a nationwide cross-sectional study of patients with pituitary adenomas with onset ≤40 years of age and/or other personal/family history of endocrine neoplasia. A custom NGS panel was performed on germline DNA to interrogate eight FPTS genes. Genome data were analysed via a custom bioinformatic pipeline, and validation was performed by Sanger sequencing. Multiplex ligation-dependent probe amplification (MLPA) was performed in cases with heightened suspicion for MEN1 , CDKN1B and AIP mutations. The main outcomes were frequency and pathogenicity of rare variants in AIP , CDKN1B , MEN1 , PRKAR1A , SDHA , SDHB , SDHC and SDHD . Results Forty-four patients with pituitary tumours, 14 of whom had a personal history of other endocrine tumours and/or a family history of pituitary or other endocrine tumours, were referred from endocrine tertiary-referral centres across Australia. Eleven patients (25%) had a rare variant across the eight FPTS genes tested: AIP (p.A299V, p.R106C, p.F269F, p.R304X, p.K156K, p.R271W), MEN1 (p.R176Q), SDHB (p.A2V, p.S8S), SDHC (p.E110Q) and SDHD (p.G12S), with two patients harbouring dual variants. Variants were classified as pathogenic or of uncertain significance in 9/44 patients (20%). No deletions/duplications were identified in MEN1 , CDKN1B or AIP . Conclusions A high yield of rare variants in genes implicated in FPTS can be found in selected patients using an NGS panel. It may also identify individuals harbouring more than one rare variant.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-16-0944
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2017
    detail.hit.zdb_id: 1485160-X
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  • 3
    Online Resource
    Online Resource
    A case series and literature review of necrobiosis lipoidica
    Bioscientifica ; 2022
    In:  Endocrinology, Diabetes & Metabolism Case Reports Vol. 2022 ( 2022-08-01)
    Details
    In: Endocrinology, Diabetes & Metabolism Case Reports, Bioscientifica, Vol. 2022 ( 2022-08-01)
    Abstract: Necrobiosis lipoidica (NL) is a rare and chronic disease characterised by yellow-brown, atrophic, telangiectatic plaques usually located on the lower extremities, with pathological features of collagen necrobiosis and dermal inflammation. Most cases are seen in those with diabetes mellitus, particularly type 1 diabetes (T1DM), and many without diabetes have evidence of abnormal glucose tolerance or family history of autoimmune disease. In this study, we describe four patients with NL and T1DM. A common theme is late identification and delay in diagnosis. Hence, we discuss the clinical features, need for clinicopathological correlation, and the management and prognostic implications for this distinctive entity. While most remain relatively asymptomatic, others progress to debilitating disease with pruritus, dysesthesia, and pain. Pain is often intense in the presence of ulcerated plaques, a morbid complication of NL. Diagnosis requires the integration of both clinical and histopathological findings. NL has proven a challenging condition to treat, and despite the numerous therapeutic modalities available, there is no standard of care. Hence, in this study, we provide an overview of current management strategies available for NL. Learning points Necrobiosis lipoidica (NL) is classically seen in patients with type 1 diabetes. Koebner phenomenon, defined as the appearance of new skin lesions on previously unaffected skin secondary to trauma, is a well-recognised feature in NL. Background skin phototype contributes to variable yellow appearance of lesions in NL. Diagnosis of NL requires careful clinicopathological correlation. NL is a chronic disease often refractory to treatment leading to significant morbidity for the patient and a management conundrum for the multidisciplinary healthcare team. No standard therapeutic regimen has been established for the management of NL.
    Type of Medium: Online Resource
    ISSN: 2052-0573
    URL: Article
    DOI: 10.1530/EDM-21-0185
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2022
    detail.hit.zdb_id: 2785530-2
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  • 4
    Online Resource
    Online Resource
    Incorporating simulation in residential operating courses: a blueprint for the future
    F1000 Research Ltd ; 2014
    In:  MedEdPublish ( 2014-1-1)
    Details
    In: MedEdPublish, F1000 Research Ltd, ( 2014-1-1)
    Type of Medium: Online Resource
    ISSN: 2312-7996
    URL: Journal
    URL: Article
    DOI: 10.15694/mep.2014.003.0000
    DOI: 10.15694/mep.2014.003.0025
    Language: Unknown
    Publisher: F1000 Research Ltd
    Publication Date: 2014
    detail.hit.zdb_id: 3040569-5
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  • 5
    Online Resource
    Online Resource
    Parasitic thyroid nodules: cancer or not?
    Bioscientifica ; 2014
    In:  Endocrinology, Diabetes & Metabolism Case Reports Vol. 2014 ( 2014-05-1)
    Details
    In: Endocrinology, Diabetes & Metabolism Case Reports, Bioscientifica, Vol. 2014 ( 2014-05-1)
    Abstract: In 2006, a 58-year-old woman presented with thyrotoxicosis. She had undergone left hemithyroidectomy 14 years before for a benign follicular adenoma. Ultrasound imaging demonstrated bilateral cervical lymphadenopathy with enhanced tracer uptake in the left lateral neck on a Technetium-99m uptake scan. Fine-needle aspiration biopsy of a left lateral neck node was insufficient for a cytological diagnosis; however, thyroglobulin (Tg) washings were strongly positive. The clinical suspicion was of functionally active metastatic thyroid cancer in cervical lymph nodes. A completion thyroidectomy and bilateral cervical lymph node dissection were performed. Histology demonstrated benign multinodularity in the right hemithyroid, with bilateral reactive lymphadenopathy and 24 benign hyperplastic thyroid nodules in the left lateral neck that were classified as parasitic thyroid nodules. As there had been a clinical suspicion of thyroid cancer, and the hyperplastic/parasitic thyroid tissue in the neck was extensive, the patient was given ablative radioactive iodine (3.7 GBq). After 2 years, a diagnostic radioactive iodine scan was clear and the serum Tg was undetectable. The patient has now been followed for 7 years with no evidence of recurrence. Archived tissue from a left lateral neck thyroid nodule has recently been analysed for BRAF V600E mutation, which was negative. Learning points Thyrotoxicosis due to functional thyroid tissue in the lateral neck is very rare and may be due to metastatic thyroid cancer or benign parasitic thyroid tissue. Parasitic thyroid nodules should be considered as a differential diagnosis of lateral neck thyroid deposits, particularly where there is a history of prior thyroid surgery. Parasitic thyroid nodules may occur as a result of traumatic rupture or implantation from a follicular adenoma at the time of surgery. The use of ablative radioactive iodine may be appropriate, as resection of all parasitic thyroid tissue can prove difficult. BRAF mutational analysis of parasitic thyroid tissue may provide extra reassurance in the exclusion of papillary thyroid carcinoma.
    Type of Medium: Online Resource
    ISSN: 2052-0573
    URL: Article
    DOI: 10.1530/EDM-14-0027
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2014
    detail.hit.zdb_id: 2785530-2
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  • 6
    Online Resource
    Online Resource
    CDC73/HRPT2 CpG island hypermethylation and mutation of 5′-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors
    Bioscientifica ; 2010
    In:  Endocrine-Related Cancer Vol. 17, No. 1 ( 2010-03), p. 273-282
    Details
    In: Endocrine-Related Cancer, Bioscientifica, Vol. 17, No. 1 ( 2010-03), p. 273-282
    Abstract: The tumor suppressor HRPT2 / CDC73 is mutated in constitutive DNA from patients with the familial disorder hyperparathyroidism–jaw tumor syndrome and in ∼70% of all parathyroid carcinomas. In a number of HRPT2 mutant tumors however, expression of the encoded protein parafibromin is lost in the absence of a clear second event such as HRPT2 allelic loss or the presence of a second mutation in this tumor suppressor gene. We sought to determine whether hypermethylation of a 713 bp CpG island extending 648 nucleotides upstream of the HRPT2 translational start site and 65 nucleotides into exon 1 might be a mechanism contributing to the loss of expression of parafibromin in parathyroid tumors. Furthermore, we asked whether mutations might be present in the 5′-untranslated region (5′-UTR) of HRPT2 . We investigated a pool of tissue from 3 normal parathyroid glands, as well as 15 individual parathyroid tumor samples including 6 tumors with known HRPT2 mutations, for hypermethylation of the HRPT2 CpG island. Methylation was not identified in any specimens despite complete loss of parafibromin expression in two parathyroid carcinomas with a single detectable HRPT2 mutation and retention of the wild-type HRPT2 allele. Furthermore, no mutations of a likely pathogenic nature were identified in the 5′-UTR of HRPT2 . These data strongly suggest that alternative mechanisms such as mutation in HRPT2 intronic regions, additional epigenetic regulation such as histone modifications, or other regulatory inactivation mechanisms such as targeting by microRNAs may play a role in the loss of parafibromin expression.
    Type of Medium: Online Resource
    ISSN: 1351-0088 , 1479-6821
    URL: Article
    DOI: 10.1677/ERC-09-0291
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2010
    detail.hit.zdb_id: 2010895-3
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  • 7
    Online Resource
    Online Resource
    Breast cancer-associated fibroblasts induce epithelial-to-mesenchymal transition in breast cancer cells
    Bioscientifica ; 2012
    In:  Endocrine-Related Cancer Vol. 20, No. 1 ( 2012-10-30), p. 1-12
    Details
    In: Endocrine-Related Cancer, Bioscientifica, Vol. 20, No. 1 ( 2012-10-30), p. 1-12
    Abstract: Cancer-associated fibroblasts (CAFs) play a role in tumour initiation and progression, possibly by inducing epithelial-to-mesenchymal transition (EMT), a series of cellular changes that is known to underlie the process of metastasis. The aim of this study was to determine whether CAFs and surrounding normal breast fibroblasts (NBFs) are able to induce EMT markers and functional changes in breast epithelial cancer cells. Matched pairs of CAFs and NBFs were established from fresh human breast cancer specimens and characterised by assessment of CXCL12 levels, α-smooth muscle actin (α-SMA) levels and response to doxorubicin. The fibroblasts were then co-cultured with MCF7 cells. Vimentin and E-cadherin expressions were determined in co-cultured MCF7 cells by immunofluorescence and confocal microscopy as well as by western blotting and quantitative PCR. Co-cultured MCF7 cells were also assessed functionally by invasion assay. CAFs secreted higher levels of CXCL12 and expressed higher levels of α-SMA compared with NBFs. CAFs were also less sensitive to doxorubicin as evidenced by less H2AX phosphorylation and reduced apoptosis on flow cytometric analysis of Annexin V compared with NBFs. When co-cultured with MCF7 cells, there was greater vimentin and less E-cadherin expression as well as greater invasiveness in MCF7 cells co-cultured with CAFs compared with those co-cultured with NBFs. CAFs have the ability to induce a greater degree of EMT in MCF7 cell lines, indicating that CAFs contribute to a more malignant breast cancer phenotype and their role in influencing therapy resistance should therefore be considered when treating breast cancer.
    Type of Medium: Online Resource
    ISSN: 1351-0088 , 1479-6821
    URL: Article
    DOI: 10.1530/ERC-12-0227
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2012
    detail.hit.zdb_id: 2010895-3
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  • 8
    Online Resource
    Online Resource
    Thick-billed Murre (Uria lomvia)
    Cornell Laboratory of Ornithology ; 2000
    In:  The Birds of North America Online
    Details
    In: The Birds of North America Online, Cornell Laboratory of Ornithology
    Type of Medium: Online Resource
    URL: Journal
    URL: Article
    DOI: 10.2173/bna
    DOI: 10.2173/bna.thbmur.02
    Language: Unknown
    Publisher: Cornell Laboratory of Ornithology
    Publication Date: 2000
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  • 9
    Online Resource
    Online Resource
    Pitfalls and progress in adrenocortical carcinoma diagnosis: the utility of a multidisciplinary approach, immunohistochemistry and genomics
    Bioscientifica ; 2022
    In:  Endocrinology, Diabetes & Metabolism Case Reports Vol. 2022 ( 2022-01-01)
    Details
    In: Endocrinology, Diabetes & Metabolism Case Reports, Bioscientifica, Vol. 2022 ( 2022-01-01)
    Abstract: Adrenocortical carcinoma is a rare disease with poor prognosis whose clinical heterogeneity can at times present a challenge to accurate and timely diagnosis. We present the case of a patient who presented with extensive pulmonary lesions, mediastinal and hilar lymphadenopathy and an adrenal mass in whom the oncological diagnosis was initially uncertain. Through the use of immunohistochemistry, biochemistry and genomic testing, an accurate diagnosis of adrenocortical carcinoma was ultimately made which resulted in more directed treatment being administered. The use of multidisciplinary input and genomics to aid in diagnosis and prognosis of adrenocortical carcinoma is discussed. Learning points Adrenocortical carcinomas can present a diagnostic challenge to clinicians given it is a rare malignancy with significant clinical heterogeneity. Specialist multidisciplinary team input is vital in the diagnosis and management of adrenocortical carcinomas. Hormonal testing is recommended in the diagnostic workup of adrenal masses, even in the absence of overt clinical signs/symptoms of hormone excess. Immunostaining for the highly sensitive and specific steroidogenic factor-1 is vital for accurate diagnosis. Genomics can provide prognostic utility in management of adrenocortical carcinoma.
    Type of Medium: Online Resource
    ISSN: 2052-0573
    URL: Article
    DOI: 10.1530/EDM-21-0081
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2022
    detail.hit.zdb_id: 2785530-2
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  • 10
    Online Resource
    Online Resource
    Thick-billed Murre (Uria lomvia)
    Cornell Laboratory of Ornithology ; 2000
    In:  The Birds of North America Online
    Details
    In: The Birds of North America Online, Cornell Laboratory of Ornithology
    Type of Medium: Online Resource
    URL: Journal
    URL: Article
    DOI: 10.2173/bna
    DOI: 10.2173/bna.497
    Language: Unknown
    Publisher: Cornell Laboratory of Ornithology
    Publication Date: 2000
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