Prevalence of Paroxysmal Nocturnal Hemoglobinuria Clones in Myeloproliferative Neoplasm Patients: A Cross-Sectional Study

Gutwein, Odit; Englander, Yoav; Herzog-Tzarfati, Katrin; Filipovich-Rimon, Talia; Apel, Arie; Marcus, Ronit; Rahimi‐Levene, Naomi; Koren‐Michowitz, Maya

doi:10.1016/j.clml.2019.07.441

Cited by 7 publications

(9 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In a large cross-sectional study including 197 MPN, 14.2% of subjects had CD55/CD59-negative red cells; this prevalence rose to 21.3% in the subgroup of ET patients ( 29 ). At variance, in a series of 98 MPN subjects, PNH clones greater than 1% were detected in only two patients (2%) ( 30 ), one of whom with recurrent thrombotic complications. Finally, two studies failed to detect PNH clones in MPN patients.…”

Section: Review Of the Literaturementioning

confidence: 90%

“…Besides AA and MDS, PNH clones have been detected also in the context of lymphoid disorders, such as acute lymphoblastic leukemia and lymphomas (9,36), and in autoimmune/idiopathic cytopenias (6)(7)(8)37). The review of the literature highlighted that about 10% of MPN patients harbor a PNH clone (26,29,30), and this frequency rises up to 17% if clones smaller than 1% are considered (27). More importantly, the disregarded association of these two conditions may cause a significant delay in PNH diagnosis, as observed in our case.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Paroxysmal Nocturnal Hemoglobinuria in the Context of a Myeloproliferative Neoplasm: A Case Report and Review of the Literature

2021

View full text Add to dashboard Cite

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by intravascular hemolytic anemia and thrombosis and is notoriously associated with aplastic anemia and myelodysplastic syndromes. Rarer associations include myeloproliferative neoplasms (MPNs), which are also burdened by increased thrombotic tendency. The therapeutic management of this rare combination has not been defined so far. Here, we describe a 62-year-old man who developed a highly hemolytic PNH more than 10 years after the diagnosis of MPN. The patient started eculizumab, obtaining good control of intravascular hemolysis but without amelioration of transfusion-dependent anemia. Moreover, we performed a review of the literature regarding the clinical and pathogenetic significance of the association of PNH and MPN. The prevalence of PNH clones in MPN patients is about 10%, mostly in association with JAK2V617F-positive myelofibrosis. Thrombotic events were a common clinical presentation (35% of subjects), sometimes refractory to combined treatment with cytoreductive agents, anticoagulants, and complement inhibitors. The latter showed only partial effectiveness in controlling hemolytic anemia and, due to the paucity of data, should be taken in consideration after a careful risk/benefit evaluation in this peculiar setting.

show abstract

Section: Review Of the Literaturementioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Paroxysmal Nocturnal Hemoglobinuria in the Context of a Myeloproliferative Neoplasm: A Case Report and Review of the Literature

2021

View full text Add to dashboard Cite

show abstract

“…Interestingly, a few cases of coexistence of PMF and PNH have been reported (Table 2) [11,12,14,16]. One recent study reported that PNH clones were found in 2% of MPN patients [15]. The sequence of development of these two clonal diseases or the time points of acquiring these associated mutations has been reported to be variable case by case.…”

Section: Discussionmentioning

confidence: 99%

“…There have been a few reports of the concomitant MPN and PNH [ 11 , 12 , 13 , 14 , 15 , 16 , 17 ], whereas a close association between PNH and aplastic anemia (AA)/myelodysplastic syndrome (MDS) has been well known [ 18 ].…”

Section: Introductionmentioning

confidence: 99%

Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with JAK2 V617F, U2AF1 and SETBP1 Mutations: A Case Report and Brief Review of Literature

Park

Cho

et al. 2021

Diagnostics

View full text Add to dashboard Cite

Primary myelofibrosis (PMF) and paroxysmal nocturnal hemoglobinuria (PNH) are very rare diseases, respectively, and it is uncommon to have both diseases together. Mutational profiling using next-generation sequencing in PMF and PNH detected additional mutations associated with myeloid neoplasms, suggesting a step-wise clonal evolution. We present here a very rare case with PMF and PNH with JAK2 V617F, U2AF1 and SETBP1 mutations at the time of diagnosis. The combination of these two diseases and three genetic mutations is difficult to interpret at once. (i.e., the sequence of these two clonal diseases or the time points of acquiring these mutations). Our report suggests that when diagnosing or treating patients with PMF, it is necessary to keep in mind that PNH may be present at the same time or sometimes new. The genetic mutations simultaneously found in this patient require further research to elucidate the clinical significance and their genetic associations fully.

show abstract

“…9 Conversely, concurrent or secondary diagnosis of haemolytic PNH in patients with MN is extremely rare 1 and is confined to case reports in patients with myeloproliferative neoplasms (MPN). [10][11][12] The purpose of the present work was to describe the disease characteristics and clinical course of patients with a concurrent diagnosis of PNH and MN, without evidence of pre-existing PNH.…”

Section: Haemolytic Paroxysmal Nocturnal Haemoglobinuria In Patients ...mentioning

confidence: 99%

Haemolytic paroxysmal nocturnal haemoglobinuria in patients with myeloid neoplasms: A rare association with specific therapeutic implications

et al. 2023

View full text Add to dashboard Cite

Prevalence of Paroxysmal Nocturnal Hemoglobinuria Clones in Myeloproliferative Neoplasm Patients: A Cross-Sectional Study

Cited by 7 publications

References 7 publications

Paroxysmal Nocturnal Hemoglobinuria in the Context of a Myeloproliferative Neoplasm: A Case Report and Review of the Literature

Paroxysmal Nocturnal Hemoglobinuria in the Context of a Myeloproliferative Neoplasm: A Case Report and Review of the Literature

Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with JAK2 V617F, U2AF1 and SETBP1 Mutations: A Case Report and Brief Review of Literature

Haemolytic paroxysmal nocturnal haemoglobinuria in patients with myeloid neoplasms: A rare association with specific therapeutic implications

Contact Info

Product

Resources

About