Frequency and perturbations of various peripheral blood cell populations before and after eculizumab treatment in paroxysmal nocturnal hemoglobinuria

Gurnari, Carmelo; Graham, Antonnette V.; Efanov, А. Yu.; Pagliuca, Simona; Durrani, Jibran; Awada, Hassan; Patel, Bhumika J.; Lichtin, Alan E.; Visconte, Valeria; Sekeres, Mikkael A.; Maciejewski, Jaroslaw P.

doi:10.1016/j.bcmd.2020.102528

Cited by 10 publications

(4 citation statements)

References 26 publications

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“…2 The percentages of granulocytes are usually much higher as the difference between PNH RBC and granulocytes corresponds to the degree of haemolysis under steadystate conditions and usually correlates with the LDH values. 3 However, under conditions of low-level steady-state haemolysis, in Type II major clone PNH diseases or in patients treated with complement inhibitors, the difference between RBC and granulocytes with PNH phenotypes is reduced. Increased reticulocytes are another measure of haemolysis, usually high as compensatory feedback unless there is suppression of erythropoiesis because of the concomitant presence of aplastic anaemia (AA).…”

Section: Ahemolytic Pnh (White Cell Pnh): Clinical Features and Impli...mentioning

confidence: 99%

Ahemolytic PNH (white cell PNH): Clinical features and implications of a distinct phenotype of paroxysmal nocturnal haemoglobinuria

Tombul,

Bahaj,

Ozturk

et al. 2024

Br J Haematol

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Section: Ahemolytic Pnh (White Cell Pnh): Clinical Features and Impli...mentioning

confidence: 99%

Ahemolytic PNH (white cell PNH): Clinical features and implications of a distinct phenotype of paroxysmal nocturnal haemoglobinuria

Tombul,

Bahaj,

Ozturk

et al. 2024

Br J Haematol

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“…1). In the BMF cohort, the cases with a detected PNH clone ≥1% were categorized as AA/ PNH [12,13]. All MN patients were classified according to World Health Organization 2016 criteria [14].…”

Section: Patients and Materialsmentioning

confidence: 99%

Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia

Kubota

Zawit²,

Durrani³

et al. 2022

Leukemia

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Broader genetic screening has led to the growing recognition of the role of germline variants associated with adult bone marrow failure (BMF) and myeloid neoplasia (MN) not exclusively in children and young adults. In this study, we applied a germline variant panel to 3008 adult BMF and MN cases to assess the importance of germline genetics and its impact on disease phenotype and prognosis. In our cohort, up to 9.7% of BMF and 5.3% of MN cases carried germline variants. Our cohort also included heterozygous carriers of recessive traits, suggesting they contribute to the risk of BMF and MN. By gene category, variants of Fanconi anemia gene family represented the highest-frequency category for both BMF and MN cases, found in 4.9% and 1.7% cases, respectively. In addition, about 1.4% of BMF and 0.19% of MN cases harbored multiple germline variants affecting often functionally related genes as compound heterozygous. The burden of germline variants in BMF and MN was clearly associated with acquisition of monosomy 7. While BMF cases carrying germline variants showed similar overall survival as compared to the wild-type (WT) cases, MN cases with germline variants experienced a significantly shorter overall survival as compared to WT cases.

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“…FC analyses of PB samples are also essential for the diagnostic work-up of paroxysmal nocturnal hemoglobinuria (PNH) clones [ 81 ]. The size of PNH clones, along with comprehensive BM characterization and clinical features, can guide towards PNH diagnosis, a condition in which hemolytic anemia is complement-mediated.…”

Section: Lgl Clones As a Clue In The Differential Diagnosis Of Cytope...mentioning

confidence: 99%

LGL Clonal Expansion and Unexplained Cytopenia: Two Clues Don’t Make an Evidence

Calabretto

Attardi

Gurnari

et al. 2022

Cancers

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Clonal expansions of large granular lymphocytes (LGL) have been reported in a wide spectrum of conditions, with LGL leukemia (LGLL) being the most extreme. However, the boundaries between LGLL and LGL clones are often subtle, and both conditions can be detected in several clinical scenarios, particularly in patients with cytopenias. The intricate overlap of LGL clonal expansion with other disease entities characterized by unexplained cytopenias makes their classification challenging. Indeed, precisely assigning whether cytopenias might be related to inadequate hematopoiesis (i.e., LGL as a marginal finding) rather than immune-mediated mechanisms (i.e., LGLL) is far from being an easy task. As LGL clones acquire different pathogenetic roles and relevance according to their diverse clinical settings, their detection in the landscape of bone marrow failures and myeloid neoplasms has recently raised growing clinical interest. In this regard, the current availability of different diagnostic techniques, including next generation sequencing, shed light on the relationship between LGL clones and cytopenias, paving the way towards a better disease classification for precision medicine treatments. Herein, we discuss the clinical relevance of LGL clones in the diagnostic algorithm to be followed in patients presenting with cytopenias, offering a foundation for rational management approaches.

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Frequency and perturbations of various peripheral blood cell populations before and after eculizumab treatment in paroxysmal nocturnal hemoglobinuria

Cited by 10 publications

References 26 publications

Ahemolytic PNH (white cell PNH): Clinical features and implications of a distinct phenotype of paroxysmal nocturnal haemoglobinuria

Ahemolytic PNH (white cell PNH): Clinical features and implications of a distinct phenotype of paroxysmal nocturnal haemoglobinuria

Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia

LGL Clonal Expansion and Unexplained Cytopenia: Two Clues Don’t Make an Evidence

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