Acromegalia y neurofibromatosis tipo 1. ¿Es casual la asociación entre ambas entidades?

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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“…pheochromocytomas, while GIST can be recognised in about 1% patients of NF1 [32,35]. Our patient does not meet the clinical criteria of NF1.…”

Section: Case Reportmentioning

confidence: 59%

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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“…Pituitary macroadenomas have been rarely described in the literature in association with NF-1. Hannah-Shmouni et al [5], Garrido and del Pozo Picó [6], Nakajima et al [7], and Pinnamaneni et al [8] have described pituitary masses in patients with NF-1 in their respective case reports. As per the information available to the authors of this paper, no large-scale studies have been conducted to study the association between pituitary tumors and NF-1.…”

Section: Mishra Et Almentioning

confidence: 99%

Incidentally detected pituitary macroadenoma in a case of neurofibromatosis type 1: A case report and review of literature

Mishra¹,

Kumar²,

Kumar³

et al. 2021

IJCR

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Neurofibromatosis is a cancer predisposition syndrome that leads to an increased risk of certain neural tumors. Neurofibromatosis type 1 (NF-1) presents with multiple neurofibromas which may be dermal or plexiform. Neurofibromatosis type 2 is characterized by bilateral vestibular schwannomas. Pituitary masses have been infrequently described in cases of NF-1. We describe the case of an incidentally discovered pituitary macroadenoma in a patient with NF-1. Apart from the macroadenoma, the patient had plexiform neurofibromas of the orbit, Lisch nodules of the iris, and café-au-lait spots. The patient was called for medical management but failed to show due to the COVID-19 pandemic.

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The genetic background of acromegaly

Gadelha

Korbonits

2017

Pituitary

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Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have been described and recent studies explored the landscape of somatic mutations in sporadic somatotropinomas. This short review concentrates on the current knowledge of the genetic basis of both familial and sporadic acromegaly.

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Acromegalia y neurofibromatosis tipo 1. ¿Es casual la asociación entre ambas entidades?

Cited by 7 publications

References 11 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

Incidentally detected pituitary macroadenoma in a case of neurofibromatosis type 1: A case report and review of literature

The genetic background of acromegaly

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