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

Abstract

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.

Paroxysmal Nocturnal Hemoglobinuria and Primary Myelofibrosis as an Extremely Rare Combination of Clonal Hematological Diseases: A Literature Review and Two Clinical Case Reports

“…в журнале «Diagnostics» в 2021 г. представили клиническое наблюдение, когда у пациента с ПМФ и ПНГ помимо мутации JAK2 V617F и ПНГ-клона также обнаружены мутация U2AF1Q157 и мутация в гене SETBP1. Оба заболевания диагностированы одновременно в период первичного обследования пациента [30].…”

The impact of SETBP1 mutations in neurological diseases and cancer

“…T A B L E 1 SETBP1 mutation and diseases. -Hidalgo et al, 2017;Carvalho et al, 2015) p.D868A ND SGS (Hoischen et al, 2010) p.D868N PS SGS, aCML, sAML, RAEB, CMML1, CMML2, CNL, JMML, PT, MDS (Carvalho et al, 2015;Cui et al, 2014;Elliott et al, 2015;Gao et al, 2020;Hirao et al, 2022;Hoischen et al, 2010;Kwon et al, 2022;Li et al, 2019;Makishima et al, 2013;Montalban-Bravo et al, 2021;Mori et al, 2022;Piazza et al, 2013;Polprasert et al, 2022;Volk et al, 2015;Wakamatsu et al, 2021;Yin et al, 2019) p.D868Y ND CMML2 (Makishima et al, 2013) p.S869C ND SGS (Landim et al, 2015) p.S869G ND aCML (Piazza et al, 2013) p (Acuna-Hidalgo et al, 2017;Elliott et al, 2015;Hoischen et al, 2010;Mori et al, 2022) p.G870N ND CNL (Cui et al, 2014) p.G870S PS SGS, aCML, CMML, CNL, sAML, JMML PMF, PNH, MDS (Fontana et al, 2020;Herenger et al, 2015;Hirao et al, 2022;Hoischen et al, 2010;Kim et al, 2021;Ko et al, 2013;Kwon et al, 2022;Leone et al, 2020;Makishima et al, 2013;Montalban-Bravo et al, 2021;Park et al, 2021;Piazza et al, 2013;…”