Extent of surgery for phaeochromocytomas in the genomic era

Rossitti, Hugo M; Söderkvist, Peter; Gimm, Oliver

doi:10.1002/bjs.10744

Cited by 34 publications

(36 citation statements)

References 120 publications

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“…Activation of effector molecules in pseudohypoxia signaling is triggered by genetic mutations involving the degradation of hypoxia‐inducible factor 1/2 α or Krebs cycle function, such as succinate dehydrogenase genes ( SDHx ), VHL , or EPAS1 [34]. These changes suggest increased levels of angiogenesis and enable hematogenous dissemination [35, 36]. Hyperactive kinase signaling is induced by mutations involving genes associated with mitogen‐activated protein kinase, such as tumor suppressor genes ( NF1, TMEM127, MAX, and KIF1Bβ ), RET, or HRAS , which promoted growth independence of extracellular signals [35, 37, 38].…”

Section: Discussionmentioning

confidence: 99%

Transcriptome Analysis Reveals Significant Differences in Gene Expression of Malignant Pheochromocytoma or Paraganglioma

Suh

Park

Bilegsaikhan

et al. 2019

International Journal of Endocrinology

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Prediction of malignant behavior of pheochromocytoma (PC) or paraganglioma (PG) is of limited value. The Cancer Genome Atlas (TCGA) and the French ‘Cortico et Médullosurrénale: les Tumeurs Endocrines’ (COMETE) network in Paris (France) facilitate accurate differentiation of malignant PC/PG based on genetic information. Therefore, the objective of this transcriptome analysis is to identify the prognostic genes underlying the differentiation of malignant PC/PG in the TCGA and COMETE databases. TCGA carries data pertaining to multigenomic analysis of 173 PC/PG surgical resection samples while the COMETE cohort contains data involving 188 PC/PG surgical resection samples. Clinical information and mRNA expression datasets were downloaded from TCGA and COMETE databases. Based on eligibility criteria, 58 of 173 PC/PG samples in TCGA and 171 of 188 PC/PG samples collected by the COMETE network were selected. Using Ingenuity Pathway Analysis, the mRNA expression of malignant and benign PC/PG was compared. The 58 samples in TCGA included 11 malignant and 47 benign cases. Among the 171 samples obtained from the COMETE cohort, 19 were malignant and 152 were benign. A comparative analysis of the mRNA expression data of the two databases revealed that 11 up/downregulated pathways involved in malignant PC/PG were related to cancer signaling, metabolic alteration, and prominent mitosis, whereas 6 upregulated genes and 1 downregulated gene were significantly enriched in the functional annotation pathways. The TCGA and COMETE databases showed differences in mRNA expression associated with malignant and benign PC/PG. Improved recognition of prognostic genes facilitates the diagnosis and treatment of PC/PG.

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Section: Discussionmentioning

confidence: 99%

Transcriptome Analysis Reveals Significant Differences in Gene Expression of Malignant Pheochromocytoma or Paraganglioma

Suh

Park

Bilegsaikhan

et al. 2019

International Journal of Endocrinology

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“…In patients with bilateral adrenal tumors that require bilateral surgery, subtotal adrenalectomy may be indicated to avoid steroid dependency with its side-effects and risks (40). This may be indicated in patients with bilateral pheochromocytomas, or in those with a unilateral pheochromocytoma and a high risk of developing a contralateral pheochromocytoma, e.g., in patients with multiple endocrine neoplasia type 2 or von Hippel-Lindausyndrome (41). Indication for patients with bilateral adrenal metastases is less clear (42).…”

Section: Subtotal Adrenalectomymentioning

confidence: 99%

Challenges of training in adrenal surgery

Gimm¹,

Duh²

2019

Gland Surg

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While adrenal tumors are common, adrenalectomy is rather uncommon. This is one reason for the many challenges regarding the training of adrenal surgery. Here we focus on issues that are most pertinent regarding training of the young surgeons performing adrenalectomy. Due to the very limited literature, what is presented is mainly based on personal experience and/or from the literature published for other surgical operations and subspecialties. The discussed challenges include indications for surgery, surgical approaches and extent, and intraoperative complications. With advances in adrenal surgery, we expect some old challenges to be resolved, and some new challenges to arise. These challenges will be faced in order to continue to help our younger trainee acquire the knowledge and skills to best care for our patients with adrenal diseases.

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“…ФХ и ПГТ развиваются, примерно, у 50 и 20-30 % больных соответственно. При этом существует зависимость между локализацией мутации в гене RET, пенетрантностью «компонентов» заболевания и их клиническими особенностями, что довольно подробно отражено в работах ряда авторов [5,8,9]. В этой связи молекулярногенетический анализ протоонкогена RET имеет важное значение не только в плане подтверждения диагноза МЭН 2А, но и для построения параллелей «генотип -фенотип», которые определяют диагностическую и лечебную тактику, а также тактику наблюдения за пациентами и сроки скринингового обследования членов их семей.…”

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“…При этом предпринимаемые попытки решения этой проблемы, включая аутотрансплантацию кортикальной ткани надпочечника, не приносят абсолютного удовлетворения [16,17]. Это послужило поводом для проведения многоцентровых исследований с целью оценки эффективности выполнения больным МЭН2 органосохраняющих операций по поводу ФХ, в ряде которых [9,10] были получены убедительные данные о целесообразности резекции надпочечника у этой категории пациентов. В нашем наблюдении, наряду с адреналэктомией, была выполнена резекция другого надпочечника, при этом данные гистологического исследования (R0-резекция) и детальный анализ изображений, полученных при КТ брюшной полости после операции, подтвердили ее радикальность.…”

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Surgical treatment of a patient with multiple endocrine neoplasia type 2A

Britvin

Bondarenko

Krivosheev

et al. 2020

VESTNIK KHIRURGII IMENI I.I.GREKOVA

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The diagnosis and treatment of multiple endocrine neoplasia type 2A syndrome or Sipple’s syndrome, as well as other endocrine hereditary syndromes, presents certain difficulties for several reasons. One of them is the rarity of this pathology and, as a result, the lack of awareness of physicians. In addition, the diagnosis requires a comprehensive examination and a high level of clinical, laboratory, radiation and morphological diagnostics. And finally, surgical treatment, which is essentially the only method, involves an individual approach to each patient. We present the clinical case of Sipple's syndrome in a 39-year-old man. The diagnosis was carried out of medical history, clinical examination, laboratory tests (24-hour urine excretion of metanephrines and normetanephrines; serum calcium, calcitonin and parathyroid hormone levels), neck ultrasound and abdominal CT scan and was confirmed by histopathological examination and genetic testing for RET mutation. The achievement of the endpoint in the form of normalization of blood pressure and the absence of adrenal insufficiency was due to radical surgical treatment.

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Extent of surgery for phaeochromocytomas in the genomic era

Cited by 34 publications

References 120 publications

Transcriptome Analysis Reveals Significant Differences in Gene Expression of Malignant Pheochromocytoma or Paraganglioma

Transcriptome Analysis Reveals Significant Differences in Gene Expression of Malignant Pheochromocytoma or Paraganglioma

Challenges of training in adrenal surgery

Surgical treatment of a patient with multiple endocrine neoplasia type 2A

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