Balinisteanu Ioana, Caba Lavinia, Florea Andreea, Popescu Roxana, Florea Laura, Ungureanu Maria-Christina, Leustean Letitia, Gorduza Eusebiu Vlad, Preda Cristina
Endocrinology Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Medical Genetics Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Curr Issues Mol Biol. 2024 Aug 20;46(8):9093-9121. doi: 10.3390/cimb46080538.
Acromegaly is a rare endocrine disorder characterized by the excessive production of growth hormone (GH) in adulthood. Currently, it is understood that certain pituitary neuroendocrine tumors (PitNETs) exhibit a hereditary predisposition. These tumors' genetic patterns fall into two categories: isolated and syndromic tumors. The isolated forms are characterized by molecular defects that predispose exclusively to PitNETs, including familial isolated pituitary adenomas (FIPAs) and sporadic genetic defects not characterized by hereditary predisposition. All the categories involve either germline or somatic mutations, or both, each associated with varying levels of penetrance and different phenotypes. This highlights the importance of genetic testing and the need for a more comprehensive view of the whole disease. Despite the availability of multiple treatment options, diagnosis often occurs after several years, and management is still difficult. Early detection and intervention are crucial for preventing complications and enhancing the quality of life for affected individuals. This review aims to elucidate the molecular, clinical, and histological characteristics of GH-secreting PitNETs, providing insights into their prevalence, treatment nuances, and the benefits of genetic testing for each type of genetic disorder associated with acromegaly.
肢端肥大症是一种罕见的内分泌疾病，其特征是成年后生长激素（GH）分泌过多。目前已知，某些垂体神经内分泌肿瘤（PitNETs）具有遗传易感性。这些肿瘤的遗传模式分为两类：散发性和综合征性肿瘤。散发性肿瘤的特征是仅易患PitNETs的分子缺陷，包括家族性孤立性垂体腺瘤（FIPAs）和无遗传易感性特征的散发性遗传缺陷。所有类型都涉及种系或体细胞突变，或两者兼有，每种突变都与不同程度的外显率和不同的表型相关。这凸显了基因检测的重要性以及对整个疾病进行更全面了解的必要性。尽管有多种治疗选择，但诊断往往在数年后才进行，治疗仍然困难。早期发现和干预对于预防并发症和提高患者生活质量至关重要。本综述旨在阐明分泌生长激素的PitNETs的分子、临床和组织学特征，深入了解其患病率、治疗细微差别以及针对与肢端肥大症相关的每种遗传疾病进行基因检测的益处。
