Background Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it is observed the clinical course of CLL cases with del(13q) are quite heterogeneous and the responsible for this clinical heterogeneity has not been established yet. Some investigators suggest type II deletion (include RB1 gene) is associated with more aggressive clinical course. Also, it is suggested that the deletion burden and the deletion type have a prognostic effect. In this study, we aimed to investigate the effect of RB1 gene deletion, deletion burden and deletion type on overall survival (OS), disease stage and time to first treatment (TTFT) in patients with isolated del(3q). Sixty eight cases, detected isolated del(13q) were included in the study. Also, RB1 deletion was analyzed from peripheral blood of them using FISH. Results RB1 deletion was detected in 41% of patients, but there was no statistically significant difference between RB1 deletion and TTFT, stage and OS (p > 0.05). At same time, statistically significant difference was detected between high del(13q) (> 80%) and TTFT (p < 0.05). Conclusion The statistical analysis of our data regarding to the association between RB1 deletion and deletion type, TTFT, disease stage, and OS has not confirmed type II deletion or biallelic deletion cause poor prognosis. However, our data supports the deletion burden has a prognostic effect. More studies are needed to elucidate the cause of the clinical heterogeneity of CLL cases with del(13q).

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Özet: FMF sıklıkla Akdeniz çevresinde yaşayan etnik grupları etkileyen, otozomal resesif geçişli bir hastalıktır. FMF'e yol açan MEFV geninin kodladığı Pirin proteinin antiinflamatuar yanıtta negatif bir düzenleyici olarak rol oynadığı düşünülmektedir. FMF hastalarının çoğundan MEFV gen mutasyonlarının sorumlu olduğu düşünülmektedir. Bu çalışmada, FMF tanısı almış 5836 olgunun MEFV genindeki olası mutasyonlarının tespit edilmesi ve tespit edilen mutasyonların Türk FMF olguları arasındaki dağılımının değerlendirilmesi amaçlanmıştır. FMF tanısı almış, 7 yıllık hasta profili ile retrospektif bir çalışma yapılmıştır. Olgulardan elde edilen DNA örneklerinden, pirosekanslama ile MEFV geninde hastalıkla ilişkisi olduğu bilinen 22 mutasyon bölgesi çalışılmıştır. Toplam 5836 olgunun 2774'ünde (% 47,5) mutasyon saptanırken, 3062'sinde (% 52,46) incelenen bölgelere ilişkin mutasyon gözlenmemiştir. .Çalışma grubundaki 5836 olgunun % 18,59'de M694V, % 12,15'de E148Q, % 7,4'de V726A, % 3,56'de M680I (G>C), % 2,59'de M680I (G>A), %1,85'de R761H, % 1,9'de P369S ve %1,25'de K695R mutasyonları tespit edilmiştir. Bu çalışmada elde edilen bulgular doğrultusunda, Türk toplumundaki MEFV gen mutasyon tipleri ve frekansları geniş bir hasta serisiyle net bir şekilde ortaya konulmuştur. Bu verilerin Türk toplumunda yeni FMF panelleri için daha spesifik belirteçlerin kullanılmasına yardımcı olabileceğini düşünmekteyiz.

Background: Heart failure with preserved ejection fraction (HFpEF) is heterogeneous clinical syndrome. Transthyretin cardiac amyloidosis (CA) is an underdiagnosed cause of HFpEF. Red flags are extremely useful for suspecting CA. Aims:We aimed to evaluate the frequency of cardiac and extracardiac manifestations of CA in HFpEF patients based on red flags.Methods: Baseline characteristics of 85 patients were recorded during admission. Electrocardiogram and echocardiography were performed. All patients were examined for red flags. Cardiac scintigraphy was performed in 85 patients. Results:The mean (standard deviation [SD]) age of the study group was 67.9 (9.8) years, and 52 (61.2%) patients were female. At least 1 red flag was observed in 67% of HFpEF patients. Only 4 of the patients had more than 3 red flags. The mean number of red flags in a patient with HFpEF was 1.3. Extracardiac clinical red flags were observed in only 9 (10.5%) patients. Cardiac clinical red flags were extremely rare. An electrocardiographic red flag was detected in 2 out of 10 patients and an echocardiographic red flag in 4 out of 10 patients with HFpEF. Scintigraphy showed that 17.6% of all patients have had a grade 2 or 3 cardiac uptake. The patients with wild-type transthyretin CA had twice as many red flags as those without. Conclusion:The results of the study showed that patients diagnosed with HFpEF had an average of 1.3 red flags suggestive of CA. In real life, extracardiac red flags are rare, while electrocardiographic and echocardiographic red flags are more common in patients with HFpEF.