Clinical features and diagnosis of Ph - negative myeloproliferative neoplasms occurring in conjunction with the antiphospholipid syndrome

Abstract

Thrombosis is a serious and extremely dangerous disease that has a negative impact on the quality and longevity. Antiphospholipid syndrome (APS) is a pathology characterized by recurring venous, arterial, microvasculature thrombosis, pregnancy pathology with loss of the fetus and the synthesis of antiphospholipid antibodies. A high risk of thrombotic complications is also observed in patients with myeloproliferative neoplasms (MPN). This article presents a description of three clinical cases of Ph - negative myeloproliferative diseases, occurring in conjunction with APS. In all cases, recurrent thrombosis allowed to suspect the presence of two diseases - MPN and APS.

Miyeloproliferatif Hastalıkların Tanısının Moleküler Genetik Yönü: Polisitemi Vera Örneği

“…In 2013, data were reported on the diagnostic significance of somatic mutations in the exon 9 of the CALR gene encoding calreticulin protein (3). Mutations in this gene are detected in 67% of cases of PV and 88% of cases of primary myelofibrosis in the absence of other mutations, including JAK2 and MPL gene mutations.…”

“…Also, CALR mutations were detected in 8% of cases with myelodysplastic syndrome and other myeloid neoplasms but were absent in PV. Molecular genetic abnormalities in Philadelphianegative MDs lead to the activation of the JAK-STAT signaling pathway (3)(4)(5). This activation increases the number of RBCs, WBCs, and PLTs in the peripheral blood of patients with PV.…”

“…The 2017 WHO criteria for the diagnosis of PV is established based on a comprehensive assessment of the clinical picture and the laboratory parameters (level of evidence A) (Table 2). Thus, the results of molecular genetic analysis play a fundamental role in the diagnosis (1,3).…”

“…PEG IFN alpha 2a is associated with a better hematological and molecular response in PV compared with IFN alpha 2b. It is less toxic and, in some cases, can also eliminate the JAK2 mutant clone (1,3).…”

“…They can be classified according to the presence of the Philadelphia chromosome. Philadelphia-positive MDs include chronic myeloid leukemia (CML), which is driven by the Philadelphia chromosome, while polycythemia vera (PV), myelofibrosis, and essential thrombocythemia, which are not associated with the Philadelphia chromosome, are called Philadelphia-negative MDs (2,3). MDs also include a nonclassifiable group, which is referred to as "unclassified myeloproliferative disorders".…”