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

Year 2019, Volume: 12 Issue: 2, 300 - 309, 30.08.2019

Mehmet Ali Uçar

https://doi.org/10.26559/mersinsbd.581124

Abstract

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

Abstract

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. 

Keywords

Myelodisplastik sendrom, paroksismal nokturnal hemoglobinüri, klonalite

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