The genetic background of acromegaly

Gadelha, Mônica R.; Korbonits, Márta

doi:10.1007/s11102-017-0789-7

Cited by 72 publications

(67 citation statements)

References 92 publications

(169 reference statements)

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“…Acromegaly was also recognised in patients with neurofibromatosis 1 (NF1) [34], a genetic disorder characterised by typical skin lesions (multiple cafe au lait spots, neurofibromas, axillary and groin freckling), peripheral and central nervous system abnormalities (neurofibromas, gliomas, cognitive impairment), and…”

Section: Discussionmentioning

confidence: 99%

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules

Jawiarczyk-Przybyłowska

Wojtczak

Whitworth

et al. 2019

Endokrynologia Polska

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Acromegaly is associated with increased growth hormone (GH) and insulin-like growth factor-I (IGF-I) secretion which may support tumour development and growth. A 68-year-old woman was diagnosed with acromegaly due to typical clinical and hormonal characteristics. While contrast-enhanced MRI at diagnosis did not reveal a pituitary adenoma, a 5-mm lesion was identified on repeat scanning 13 months later. Abdominal and chest CT showed tumours of the stomach, right adrenal gland, and right lung. The CT also showed a hypodense lesion in the liver and heterogeneous echostructure of the thyroid gland with left lobe solid-cystic tumour. Somatostatin receptor scintigraphy revealed increased tracer accumulation in the right thyroid lobe. No tracer accumulation was noted at the location of the other tumours. The resected stomach, adrenal, chest, and thyroid lesions did not show GH secretion. The patient refused pituitary surgery, and her acromegaly is currently well-controlled with somatostatin analogue therapy. A CT scan 19 months later revealed a contrast-enhancing left kidney tumour that was a G1-grade clear cell carcinoma. Four years after the acromegaly diagnosis multiple myeloma were diagnosed with secondary renal amyloidosis. Genetic screening for a paraganglioma gene panel, AIP, MEN1, and CDKN1B mutations were negative. A next-generation cancer panel containing 94 cancer genes did not identify any possible unifying gene abnormality in her germline DNA. Coexistence of acromegaly and numerous other tumours suggests a common aetiology of these disorders. However, no genetic abnormality could be identified with the tests that have been performed.

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Section: Discussionmentioning

confidence: 99%

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules

Jawiarczyk-Przybyłowska

Wojtczak

Whitworth

et al. 2019

Endokrynologia Polska

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“…У пациента диагностирована соматотропинома на основании клинической картины, данных МРТ, результатов гормонального исследования, в том числе показателей соматотропного гормона в ходе пробы с подавлением глюкозой. Соматотропиномы у взрослых в 95 % спорадические, но у детей почти в 50 % случаев связаны с генетическими изменениями [11]. К заболеваниям с генетическими дефектами можно отнести множественную эндокринную неоплазию (МЭН) первого типа, синдром МакКьюна -Олбрайта (мутации в гене GNAS1), Примечание.…”

Section: обс у ж дениеunclassified

Pituitary gigantism. The possibility of medical treatment

et al. 2020

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Pituitary gigantism is a disease caused by an excess of growth hormone and characterized by tallness with a proportional increase in all parts of the body. Almost always in patients with pituitary gigantism found pituitary adenoma, producing growth hormone (somatotropin). In rare cases, there is excess production of somatoliberin by the hypothalamus or tumors outside the brain. Somatotropinoma can be sporadic or caused by a disease with genetic defects: multiple endocrine neoplasia type 1, McCuneAlbright syndrome, Carney complex, X-LAG syndrome, AIP-mutation. All associated with genetic defects somatotropinoma more invasive and less amenable to drug therapy than sporadic. Clinical recommendations (protocols) for the treatment of pituitary gigantism in children currently does not exist. The issue of preliminary medical treatment to improve the outcome of neurosurgical interventions has not been resolved, and further methodologically based studies are needed to clarify this point. The article presents a clinical case of pituitarygigantism caused by pituitary adenoma, which produces growth hormone in a 12-year-old boy. The diagnosis was established on the basis of clinical and anamnestic, laboratory data and magnetic resonance imaging. Clinical and laboratory manifestations of hypopituitarism and diabetes insipidus, visual field disorders, neurological symptoms, as well as signs of genetic diseases in the patient were not noted. Treatment with bromocriptin gave a partial positive effect: the size of the formation in the pituitary gland decreased, but the target hormonal parameters were not achieved. A trial administration of octreotide subcutaneously was carried out, as a result of which the level of growth hormone decreased to the target values, no side effects of the drug were noted, which led to the choice of a conservative method as the first line of therapy. Thedecision to treat with bromocryptine in combination with octreotide extended action. The dynamics of tumor sizeonthebackgroundofconservative therapy will answer the question of the need for subsequent neurosurgical treatment.

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“…Indeed, mutations in the genes GNAS, AIP, MEN1, CDKN1B, PRKARIA, SDHx, and GPR101 were identified to result in somatotropinoma (or acromegaly) and rarely pituitary hyperplasia. Activating mutations in one of the genes, GNAS , are well known to play a role in the pathogenesis of somatotropinomas [17] . In 95% of the cases, it occurs sporadically but they are present in almost 50% of childhood onset.…”

Section: Genetic Alteration and Signal Transduction In Acromegaly Andmentioning

confidence: 99%

“…Many pathways were attested to be altered in AML blood and bone marrow cells, including the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) [13] , mitogen-activated protein kinase, and Wnt/β-catenin pathways [17] . The aryl hydrocarbon receptor ( AhR ) pathway is also implicated in leukemogenesis, where, for example, primary human T-cell leukemia cells exhibit upregulated AhR expression and activation.…”

Section: Overlapping Signaling Pathways In Pituitary Adenoma and Leukmentioning

confidence: 99%

Co-Occurrence of Acromegaly and Hematological Disorders: A Myth or Common Pathogenic Mechanism

Gupta¹,

Dutta

2017

Integr Med Int

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Background: Acromegaly is not one disease but an association of clinical, biochemical and radiological features. Altered blood counts are often observed in acromegaly patients. Acromegaly patients presenting with a hematological malignancy are rare. To date, there are several cases that have reported the co-occurrence of these diseases. Summary: The coexistence of the two diseases can be a mere coincidence or may have a common pathogenic mechanism. The rarity of these conditions and the small number of patients makes it difficult to determine the real role of elevated growth hormone and insulin-like growth factor-1 levels in the occurrence of hematological malignancies. Patients with growth hormone (GH) replacement due to GH-deficient acromegaly are at a high risk of developing hematological disorders. Conclusion: In this review, we aim to provide evidence for the correlation between the two disorders.

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The genetic background of acromegaly

Cited by 72 publications

References 92 publications

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules

Pituitary gigantism. The possibility of medical treatment

Co-Occurrence of Acromegaly and Hematological Disorders: A Myth or Common Pathogenic Mechanism

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