SİNONAZAL İNVERTED PAPİLLOMLU VAKALARDA KROMOZOMAL MİKROARRAY ANALİZİ

Öz

Amaç: Mikroarray yöntemiyle sinonazal inverted papillomlu (SNIP) hastalarda etiyolojiden sorumlu olabilecek olası genetik varyasyonları saptamak Gereç ve Yöntem: Üçüncü basamak bir hastanenin Kulak-Burun-Boğaz Anabilim dalı tarafından Ocak 2014 - Ocak 2019 yılları arasında SNIP nedeniyle opere edilmiş 16 kişi hastane kayıtlarından tespit edildi. Ulaşılabilinen ve herhangi bir konjenital sistemik hastalığı olmayıp çalışmaya katılmayı kabul eden 7 kişi çalışmaya alındı. Çalışmaya alınan vakalara Tıbbi Genetik Anabilim dalı tarafından kromozomal mikroarray analizi (KMA) uygulandı. Bulgular: KMA yaşları 29 ile 67 arasında değişen altı erkek ve bir bayan hastaya uygulandı. Vakalardan birinde (Vaka 7) hiç bir varyant saptanamazken diğer altı vakada benign varyantlar tespit edildi. Altı vakada ortak olarak 14q32.33 lokalizasyonundaki duplikasyon varyantı görüldü. Varyantların üçü (6p25.3, 7q11.21, 14q32.33) herhangi bir gen içermezken 22. kromozom üzerinde saptanan diğer iki varyasyonun gen içeriği mevcuttu. Bunlardan vaka1 ve vaka4 de saptanan 22q11.21 lokalizasyonundaki ortalama büyüklüğü 12 kilobaz (kb) olarak saptanan duplikasyon şeklindeki varyasyon Tbx1 genini içerirken sadece vaka 5’te saptanan 22q11.22 lokalizasyonundaki yaklaşık 150 kb büyüklüğe sahip varyasyon mir650 genini içermektedir. Çalışmada ayrıca delesyon şeklinde saptanan tek Copy Number Varyasyon (CNV) 6p25.3 lokalizasyonundaki gen içeriği olmayan yaklaşık 30 kb büyüklüğüdeki varyasyondu. Bunun dışında saptanan CNV’lerin hepsi duplikasyon şeklindeydi. Sonuç: Çalışmamızda SNIP’lu hastalarda benign varyasyonlar saptamakla beraber herhangi bir patojenik veya olası patojenik varyasyon saptanmamıştır.

Anahtar Kelimeler

• Sinonazal
• inverted papilloma
• mikroarray analiz

CHROMOSOMAL MICROARRAY ANALYSIS OF CASES WITH SINONASAL INVERTED PAPILLOMA

Öz

Aim: To detect possible genetic variations in the etiology of sinonasal inverted papilloma (SNIP) by using microarray method Material and Method: Sixteen cases who had been operated for SNIP between January 2014 and January 2019 in Ear-Nose-Throat Clinic of a tertiary hospital were found from hospital recordings. Seven patients who had been reached by phone, accepted to take part in the study and didn’t have systemic congenital disease were included the study. Chromosomal microarray analysis (CMA) was applied to cases by Medical Genetic Clinic. Results: CMA was applied to 6 males and 1 female whose age varied between 29 and 67. Although no variation was detected in one case (Case 7), benign variations were detected in the other six cases. Duplication in 14q32.33 localization was met as a same variation in the 6 cases. Although three variations (6p25.3, 7q11.21, 14q32.33) didn’t have any genes, other two variations located in 22nd chromosome had gene content. While variation in case 1 and case 4 detected in 22q11.21 localization was a duplication as 12 kilobase (kb) size and contains Tbx1 gene, only case 5 had a 150 kb size variation detected in 22q11.22 localization and contains mir650 gene. Furthermore only one Copy Number Variation (CNV), approximately 30 kb size, was found as a deletion in 6p25.3 localization that didn’t have gene. All other CNVs were detected as duplication. Conclusion: Although benign variations were found in patients with SNIP, we couldn’t find pathogenic or possible pathogenic variations.

Anahtar Kelimeler

• Sinonasal
• inverted papilloma
• microarray analysis

Kaynakça

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