Akromegali hastalarımızda AIP mutasyonu sonuçlarımız
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Date
2019-01-10
Authors
Şimşir, Ilgın Yıldırım
Yürekli, Banu Şarer
Solmaz, Aslı Ece
Saygılı, Füsun
Journal Title
Journal ISSN
Volume Title
Publisher
Bursa Uludağ Üniversitesi
Abstract
Aryl hidrokarbon reseptor ilişkili protein (AIP) gen mutasyonu, genç yaşta başlayan ve ailesel geçiş gösteren akromegali nedenlerinden biridir. Bu mutasyonu olanlarda hastalık daha agresif ve invazif seyreder, hızlı büyüme göstererek büyük boyutlara ulaşır. Hastalar daha erken yaşta tanı alırlar ve ne yazık ki tedavi direnci ile karakterizedir. Yaptığımız bu çalışmada Ege Üniversitesi Tıp Fakültesi Endokrinoloji ve Metabolizma Hastalıkları Polikliniğinde takipli akromegali hastalarından 40 yaş altında tanı almaları nedeniyle gönderilen AIP gen mutasyonu sıklığı retrospektif olarak değerlendirilmiştir. Verilerine ulaşılabilen 26 olgunun 12’si (%46.2) kadın ve 14’ü (%53.8) erkekti. Akromegali tanısı aldıkları yaş ortalaması 33 ± 5 yıldı. Dokuz (%33.3) olgu operasyon sonrası ilaçsız remisyonda takipteydi. Tanı anında 23 (%85.2) hastada makroadenom, 3 (%11.1) hastada mikroadenom saptanmıştır. On iki (%44.4) hastada kavernöz sinus invazyonu, 5 (%18.5) hastada optik kiasma basısı mevcuttu. Hiçbir hastada AIP mutasyonu saptanmamıştır. Hastalarımızın bazılarında ailesel akromegali olmasına, bazılarının nüks etmesine, bazılarının tedaviye dirençli olmalarına ve bazılarının özellikle 30 yaş öncesinde tanı almalarına rağmen AIP mutasyonunun negatif olması yeni, henüz tanımlanmamış mutasyonlar olabileceğini düşündürmektedir. Hasta grubumuzun küçük olması da çalışmamızın en büyük yetersizliğini oluşturmaktadır. Hipofiz adenomlarının genetiği hakkındaki bilgimizi arttırmak adenomların yapısı, davranışı ve prognozu üzerindeki yorumlarımıza yön verecektir.
Aryl-hydrocarbon receptor interacting protein (AIP) gene mutation is one of the causes of acromegaly that starts at a young age and shows familial transition. In patients with this mutation, the disease is more aggressive and invasive. The tumor reaches large sizes with rapid growth. Patients are diagnosed at earlier ages and unfortunately are characterized by treatment resistance. In this study, we retrospectively evaluated the frequency of AIP gene mutation in patients with acromegaly who were younger than 40 years and were followed up in Ege University Medical Faculty Endocrinology and Metabolism Disorders Outpatient Clinic. Of the 26 patients whose data were available, 12 (46.2%) were female and 14 (53.8%) were male. The mean age at the time of diagnosis was 33 ± 5 years. Nine (33.3%) cases were drug-free in-follow up after operation. At the time of diagnosis, macroadenoma was detected in 23 (85.2%) patients and microadenoma was detected in 3 (11.1%) patients. Twelve (44.4%) patients had cavernous sinus invasion and 5 (18.5%) patients had optic compression. None of the patients had AIP mutations. AIP mutation was found to be negative in all of our patients despite some of them were familial acromegaly, some of them had recurrence, some of them were resistant to treatment and especially some of them were diagnosed when they were younger than 30 years old. This result suggests that there may be new and undefined mutations. The small size of our patient group is the biggest handicap of our study. Increasing our knowledge about the genetics of pituitary adenomas will guide our comments on the structure, behavior and prognosis of adenomas.
Aryl-hydrocarbon receptor interacting protein (AIP) gene mutation is one of the causes of acromegaly that starts at a young age and shows familial transition. In patients with this mutation, the disease is more aggressive and invasive. The tumor reaches large sizes with rapid growth. Patients are diagnosed at earlier ages and unfortunately are characterized by treatment resistance. In this study, we retrospectively evaluated the frequency of AIP gene mutation in patients with acromegaly who were younger than 40 years and were followed up in Ege University Medical Faculty Endocrinology and Metabolism Disorders Outpatient Clinic. Of the 26 patients whose data were available, 12 (46.2%) were female and 14 (53.8%) were male. The mean age at the time of diagnosis was 33 ± 5 years. Nine (33.3%) cases were drug-free in-follow up after operation. At the time of diagnosis, macroadenoma was detected in 23 (85.2%) patients and microadenoma was detected in 3 (11.1%) patients. Twelve (44.4%) patients had cavernous sinus invasion and 5 (18.5%) patients had optic compression. None of the patients had AIP mutations. AIP mutation was found to be negative in all of our patients despite some of them were familial acromegaly, some of them had recurrence, some of them were resistant to treatment and especially some of them were diagnosed when they were younger than 30 years old. This result suggests that there may be new and undefined mutations. The small size of our patient group is the biggest handicap of our study. Increasing our knowledge about the genetics of pituitary adenomas will guide our comments on the structure, behavior and prognosis of adenomas.
Description
Keywords
Akromegali, AIP mutasyonu, Hipofiz adenoma, Acromegaly, AIP mutation, Pituitary adenoma
Citation
Şimşir, I. Y. vd. (2019). "Akromegali hastalarımızda AIP mutasyonu sonuçlarımız". Uludağ Üniversitesi Tıp Fakültesi Dergisi, 45(1), 67-70.