Evaluation of paroxysmal nocturnal hemoglobinuria clone presence in low risk myelodysplastics syndrome patients

Öz

Aim: Myelodysplastic syndrome (MDS) is a clonal stem cell disease of bone marrow characterized by dysplasia of hematopoietic precursor cells in bone marrow. Paroxysmal nocturnal hemoglobinuria (PNH) is a life-threatening, clonal, non-malignant hematopoietic stem cell disease of the bone marrow. This study was planned to evaluate both PNH clone level and frequency in patients with low-risk MDS. Methods: The normal distribution of the data was evaluated by Kolmogorov-Smirnov test. Normal distribution of numerical variables was expressed as mean ± standard deviation, and categorical variables were expressed as number and percentage. 

Differences of numerical variables according to the presence of PNH were evaluated by Student T test and Mann Whitney U test. Myelodysplastic syndrome patients followed up in Mersin University Medical Faculty Hematology Department between 2010-2019 were included in the study. Results: The study consisted of 13 patients with PNH clones and 176 total 189 MDS patients without PNH clones.  The rate of patients with PNH clone was 7%. The mean age of the patients was 64.5 ± 13 years, female rate was 51.8%, and the rate of hypocellularity of bone marrow was higher (61.5% vs 16.5%; p = 0.001). Decreased hematocrit levels increased lactic dehydrogenase ratio, increased revised international prognostic score were identified as possible risk factors associated with mortality compared to those without PNH clones. Conclusion: In the presence of a hypocellular bone marrow in some of the low-risk MDS patients, PNH clone analysis is recommended for patients who go with refractory anemia without blast increase, and PNH clone analysis if cytopenia is accompanied by high LDH.

Düşük riskli miyelodisplastik sendrom hastalarında proksismal noktürnal hemoglobinüri klon varlığının değerlendirilmesi

Öz

Amaç: Miyelodisplastik sendrom (MDS) kemik iliğinde hematopoetik öncül hücrelerin displazisi sonucu sitopenilerle karakterize kemik iliğinin klonal kök hücre hastalığıdır. Kemik iliğinde eritrositik, megakaryositik ve granülositik serilerin her üçü de etkilenebilir. Paroksismal nokturnal hemoglobinüri (PNH) hayatı tehdit edici, kemik iliğinin klonal, malign olmayan hematopoetik kök hücre hastalığıdır. Düşük riskli MDS tanısına sahip hastalarda hem PNH klon düzeyi ve sıklığını değerlendirmek üzere bu çalışma planlanmıştır. Yöntem: Çalışma retrospektif gözlemsel çalışma olarak planalndı. Verilerin normal dağılımı Kolmogorov-Smirnov testi ile değerlendirildi. Sayısal değişkenlerden normal dağılım sergileyenler ortalama±standart sapma olarak, kategorik değişkenler sayı ve yüzde olarak belirtildi. PNH varlığına göre sayısal değişkenlerin farklılığı Studen T testi ve Mann Whitney U ile değerlendirildi. Mortalite ile ilişkili bulgular univariable Cox regression analiz ile değerlendirildi. 2010-2019 yılları arasında Mersin Üniversitesi Tıp Fakültesi Hematoloji BD’da takipli myelodisplastik sendrom hastaları çalışmaya alındı. Bulgular: Araştırma PNH klonu olan 13 hasta ve PNH klonu olmayan 176 toplam 189 MDS hastasından oluştu. PNH klonuna sahip hasta oranı %7 olarak saptandı. Hastaların ortalama yaşı 64.5±13 yıl, kadın oranı %51.8, PNH klonu olanlarda olmayanlara kıyasla kemik iliğinin hiposellülerite oranı yüksek (%61.5 vs %16.5; p=0.001) saptandı. PNH klonu olanlarda olmayanlara kıyasla azalan hematokrit düzeyi, artan laktik dehidrogenaz oranı, artan revize edilmiş uluslararası prognositik skoru mortalite ile ilişki gösteren olası risk faktörleri olarak belirlenmiştir. Sonuç: Düşük riskli MDS hastalarının bir kısmında görülen hiposellüler bir kemik iliği varlığında, blast artışı olmayan refrakter anemi ile giden hastalara PNH klon analizi yapılması, sitopeni tablosuna yüksek LDH eşlik etmesi halinde PNH klon analizi önerilmektedir. 

Anahtar Kelimeler

• Myelodisplastik sendrom,paroksismal nokturnal hemoglobinüri,klonalite

Kaynakça

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