Evaluation of Clinical Findings and NF1 Genetic Variants in Patients Diagnosed with Neurofibromatosis Type 1: A Single-Center Experience

Ünal Akça; Aslıhan Sanrı; Emre Sanrı; Elif Pekmezci Yazgı; Gülfer Akça

Makale detayları

Evaluation of Clinical Findings and NF1 Genetic Variants in Patients Diagnosed with Neurofibromatosis Type 1: A Single-Center Experience

Yazarlar:

Ünal Akça | Aslıhan Sanrı | Emre Sanrı | Elif Pekmezci Yazgı | Gülfer Akça

Yayıncı:

Hitit University

Ana Başlıklar:

Dermatoloji | Klinik Onkoloji | Tıbbi Genetik (Kanser Genetiği hariç)

Dergi:

Hitit Medical Journal Vol.7 Issue 3, pp.314-322

Belge Tipi:

Makale

Yayın Tarihi:

10/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001360222

pISSN:

2687-4717

Anahtar kelimeler:

Özet:

 Objective: Neurofibromatosis type 1 NF1 is a common neurocutaneous syndrome with multisystemic involvement that facilitates tumour formation. The aim of this study was to evaluate the demographic and clinical characteristics as well as genetic results of pediatric patients diagnosed with neurofibromatosis type 1. Materials and Methods: This retrospective, cross-sectional descriptive study included 23 patients. Main disease criteria, clinical features, and genetic results obtained using next-generation sequencing and multiple-ligation probe amplification techniques were recorded. Information on zygosity, mutation types, variant positions, ACMG classification and inheritance models were analysed. Results: Café-au-lait spots were present in all patients. Inguinalaxillary freckling was the second most common finding seen in 60.9 of patients. Lisch nodules were observed in patients older than six years, whereas choroidal abnormalities were common in younger patients. Optic glioma was found in 13 of patients and cutaneous neurofibromas in 21.7 of patients, which is lower than that observed in adult patients. Focal signal intensity image was more common in patients with cognitive impairment OR: 4.50, CI 95 0.659-30.715, p0.02. Epilepsy was diagnosed in two patients and treated with a single drug. Macrocephaly 30.4 was the most common cranial deformity. Missense mutations 43.5 were the most common, while one frameshift novel mutation c.6771del. K2257Nfs8 was identified. Conclusion: The emergence of new genetic technologies and advances in health care may facilitate earlier diagnosis of neurofibromatosis and the prediction and treatment of complications that may develop.

 Objective: Neurofibromatosis type 1 NF1 is a common neurocutaneous syndrome with multisystemic involvement that facilitates tumour formation. The aim of this study was to evaluate the demographic and clinical characteristics as well as genetic results of pediatric patients diagnosed with neurofibromatosis type 1. Materials and Methods: This retrospective, cross-sectional descriptive study included 23 patients. Main disease criteria, clinical features, and genetic results obtained using next-generation sequencing and multiple-ligation probe amplification techniques were recorded. Information on zygosity, mutation types, variant positions, ACMG classification and inheritance models were analysed. Results: Café-au-lait spots were present in all patients. Inguinalaxillary freckling was the second most common finding seen in 60.9 of patients. Lisch nodules were observed in patients older than six years, whereas choroidal abnormalities were common in younger patients. Optic glioma was found in 13 of patients and cutaneous neurofibromas in 21.7 of patients, which is lower than that observed in adult patients. Focal signal intensity image was more common in patients with cognitive impairment OR: 4.50, CI 95 0.659-30.715, p0.02. Epilepsy was diagnosed in two patients and treated with a single drug. Macrocephaly 30.4 was the most common cranial deformity. Missense mutations 43.5 were the most common, while one frameshift novel mutation c.6771del. K2257Nfs8 was identified. Conclusion: The emergence of new genetic technologies and advances in health care may facilitate earlier diagnosis of neurofibromatosis and the prediction and treatment of complications that may develop.

 Objective: Neurofibromatosis type 1 NF1 is a common neurocutaneous syndrome with multisystemic involvement that facilitates tumour formation. The aim of this study was to evaluate the demographic and clinical characteristics as well as genetic results of pediatric patients diagnosed with neurofibromatosis type 1. Materials and Methods: This retrospective, cross-sectional descriptive study included 23 patients. Main disease criteria, clinical features, and genetic results obtained using next-generation sequencing and multiple-ligation probe amplification techniques were recorded. Information on zygosity, mutation types, variant positions, ACMG classification and inheritance models were analysed. Results: Café-au-lait spots were present in all patients. Inguinalaxillary freckling was the second most common finding seen in 60.9 of patients. Lisch nodules were observed in patients older than six years, whereas choroidal abnormalities were common in younger patients. Optic glioma was found in 13 of patients and cutaneous neurofibromas in 21.7 of patients, which is lower than that observed in adult patients. Focal signal intensity image was more common in patients with cognitive impairment OR: 4.50, CI 95 0.659-30.715, p0.02. Epilepsy was diagnosed in two patients and treated with a single drug. Macrocephaly 30.4 was the most common cranial deformity. Missense mutations 43.5 were the most common, while one frameshift novel mutation c.6771del. K2257Nfs8 was identified. Conclusion: The emergence of new genetic technologies and advances in health care may facilitate earlier diagnosis of neurofibromatosis and the prediction and treatment of complications that may develop.

 Amaç: Nörofibromatozis tip 1 NF1, tümör oluşumunu kolaylaştıran multisistemik tutulumu olan yaygın bir nörokutanöz sendromdur. Bu çalışmanın amacı, nörofibromatozis tip 1 tanısı alan çocuk hastaların demografik ve klinik özelliklerinin yanı sıra genetik sonuçlarını değerlendirmektir. Gereç ve Yöntemler: Çalışmaya katılan toplam 23 hasta retrospektif olarak incelendi. Başlıca elde edilen sonuçlar analiz edildi. Buna zigosite, mutasyon tipleri, varyant pozisyonları, ACMG sınıflandırması ve kalıtım modellerine ilişkin bilgiler eklendi. Bu retrospektif, kesitsel tanımlayıcı çalışmaya 23 hasta dahil edildi. Hastalık ana kriterleri, klinik özellikleri, yeni nesil dizileme ve çoklu ligasyona bağlı prob amplifikasyon teknikleri kullanılarak elde edilen genetic sonuçları kaydedildi. Zigosite, mutasyon tipleri, varyant pozisyonları, ACMG sınıflandırması ve kalıtım modellerine ilişkin bilgiler analiz edildi. Bulgular: Café-au-lait lekeleri tüm hastalarda mevcuttu. Kasıkaksiller çillenme, hastaların 60,9unda görülen ikinci en yaygın bulguydu. Lisch nodülleri altı yaşından büyük hastalarda gözlenirken, koroidal anormallikler daha küçük hastalarda yaygındı. Optik glioma hastaların 13ünde, kutanöz nörofibromlar ise hastaların 21,7sinde tespit edilmiş olup bu oran yetişkin hastalarda gözlenenden daha düşüktür. Bilişsel bozukluğu olan hastalarda fokal sinyal yoğunluğu görüntüsü daha yaygındı OR: 4.50, CI 95 0.659-30.715, p0.02. İki hastada epilepsi tanısı konmuş ve tek bir ilaçla tedavi edilmiştir. Makrosefali 30,4 en sık görülen kraniyal deformite idi. Missense mutasyonlar 43,5 en sık görülürken, bir çerçeve kayması yeni mutasyon c.6771del. K2257Nfs8 tanımlanmıştır. Sonuç: Yeni genetik teknolojilerin ortaya çıkması ve sağlık hizmetlerindeki ilerlemeler nörofibromatozisin daha erken tanı almasını ve gelişebilecek komplikasyonların öngörülmesini ve tedavisini kolaylaştırabilir.

Makale detayları

Evaluation of Clinical Findings and NF1 Genetic Variants in Patients Diagnosed with Neurofibromatosis Type 1: A Single-Center Experience

Yazarlar:

Ünal Akça | Aslıhan Sanrı | Emre Sanrı | Elif Pekmezci Yazgı | Gülfer Akça

Yayıncı:

Hitit University

Ana Başlıklar:

Dermatoloji | Klinik Onkoloji | Tıbbi Genetik (Kanser Genetiği hariç)

Dergi:

Hitit Medical Journal Vol.7 Issue 3, pp.314-322

Belge Tipi:

Makale

Yayın Tarihi:

10/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001360222

pISSN:

2687-4717

Neurofibromatosis

Variant

FASI

Rasopathy.Nörofibromatozis

Varyant

FASI

Rasopati.

Sayı

Makale detayları

Yazarlar: Ünal Akça | Aslıhan Sanrı | Emre Sanrı | Elif Pekmezci Yazgı | Gülfer Akça

Yayıncı: Hitit University

Ana Başlıklar: Dermatoloji | Klinik Onkoloji | Tıbbi Genetik (Kanser Genetiği hariç)

Dergi: Hitit Medical Journal Vol.7 Issue 3, pp.314-322

Belge Tipi: Makale

Yayın Tarihi: 10/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001360222

pISSN: 2687-4717

Sayı

Yazarlar:

Ünal Akça | Aslıhan Sanrı | Emre Sanrı | Elif Pekmezci Yazgı | Gülfer Akça

Yayıncı:

Hitit University

Ana Başlıklar:

Dermatoloji | Klinik Onkoloji | Tıbbi Genetik (Kanser Genetiği hariç)

Dergi:

Hitit Medical Journal Vol.7 Issue 3, pp.314-322

Belge Tipi:

Makale

Yayın Tarihi:

10/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001360222

pISSN:

2687-4717