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Competing Interests: KW and MG declares funding, advisory board honoraria and other financial support (eg, travel support) from Amgen, AOP Orphan, Novartis, BMS, AbbVie, Pfizer, Roche, Janssen, Gilead, AstraZeneca, Lilly. SI declares honoraria from Pfizer, AOP Orphan, Novartis, Incyte and Abbvie, advisory board honoraria from Pfizer, Novartis, GSK and Incyte and other financial support (travel support) from Pfizer, Novartis, AOP Orphan and Alexion. SK reports funding from Novartis, Bristol-Myers Squibb, Janssen/Geron; advisory board honoraria from Pfizer, Incyte, Ariad, Novartis, AOP Pharma, BMS, Celgene, Geron, Janssen, CTI, Roche, Baxalta, Sanofi, Sierra Oncology, and GSK; patent for BET inhibitor at RWTH Aachen University; honoraria from Novartis, BMS, Celgene, Geron, Janssen, Pfizer, Incyte, Ariad, Shire, Roche, AOP Pharma, Sierra Oncology, Karthos, Imago Bioscience, and GSK; serves as an editor for HemaSphere; and other financial support (eg, travel support) from Alexion, Novartis, BMS, Incyte, Ariad, AOP Pharma, Baxalta, CTI, Pfizer, Sanofi, Celgene, Shire, Janssen, Geron, Abbvie, Karthos, Sierra Oncology, Imago Biosciences, and GSK. KD declares consulting/advisory role/honoraria from AbbVie, Celgene/BMS, Novartis, CTI BioPharma Corp, and Roche. J-JK declares consulting/advisory role/honoraria from AbbVie, BMS, Novartis, AOP Health. All the other authors have no conflicts of interest to disclose.

Polycythemia vera (PV) is a rare chronic myeloproliferative neoplasm which represents an additional thrombotic factor in pregnancy. PV may be difficult to diagnose, particularly as its incidence is extremely uncommon among young women. The main diagnostic method involves a bone marrow biopsy, and high hemoglobin and platelet counts are usually indicative of the condition, after excluding other more frequent pathologies. PV is associated with a high risk of thrombosis, particularly in pregnancy, and requires anti-platelet treatment. At present, only a limited number of PV cases in pregnancy have been reported in the literature, at least to the best of our knowledge, with the largest case series being a retrospective study that included 25 pregnancies in 15 women. The present study describes the case of a patient diagnosed with JAK2-positive PV and also discusses this rare condition with particular focus on the following: i) The management of PV in pregnancy along with the additional pathologies in this specific case; and ii) the particularities of the pregnancy course. By identifying women suffering from PV superimposed by other possible procoagulant factors and applying the latest standard in healthcare, fetal and maternal prognosis may be significantly improved., Competing Interests: The authors declare that they have no competing interests., (Copyright © 2020, Spandidos Publications.)

Rationale: Primary myelofibrosis is encountered with the myeloproliferative diseases and is the least prevalent among women of childbearing age. The prognosis is guided by pancytopenia, leukemic transformation and thrombosis which are the dominant complications., Patient Concerns: Data regarding protocol management during pregnancy in the context of myelofibrosis are insufficient. Fewer than ten cases have been described until now and half of this cases have resulted in fetal death due to placental infarction during the second and third trimesters., Diagnoses: We present the case of a 34-year-old pregnant woman diagnosed with Jak 2- negative primary myelofibrosis. Personal history did not include miscarriage or stillbirth., Interventions: The patient was previously treated with anagrelide hydrochloride, which was interrupted at 6 weeks of gestation when the pregnancy was confirmed. It was replaced with Interferon-a 3 MU/day. Because of severe thrombocytosis, administration of aspirin 150 mg/day was recommended., Outcomes: The pregnancy was uneventful. The patient was hospitalized at 33 weeks of gestation because of moderate vaginal bleeding and high risk of preterm birth. After a specialized hematological investigation, the treatment with aspirin was replaced with low-molecular-weight heparin 0.6 ml per day. This combined treatment assisted in the natural tendency to lower platelet counts during pregnancy and resulted in stabilization of the hematological status. At 38 weeks of gestation the patient delivered a healthy baby boy via cesarean. He weight 2850 grams and his Apgar score was 9. Anticoagulant and interferon treatments were continued post-partum under hematologist surveillance., Lessons: This case was rare and complex. Because it was related to pregnancy it required continuos collaboration and supervision between obstetrician and hematologist.

The 2016 WHO-CMP classification proposal defines a broad spectrum of JAK2 V617F mutated MPN phenotypes: normocellular ET, hypercellular ET due to increased erythropoiesis (prodromal PV), hypercellular ET with megakaryocytic-granulocytic myeloproliferation and splenomegaly (EMGM or masked PV), erythrocythemic PV, early and overt classical PV, advanced PV with MF and post-PV MF. ET heterozygous for the JAK2 V617F mutation is associated with low JAK2 mutation load and normal life expectance. PV patients are hetero-homozygous versus homozygous for the JAK2 V617F mutation in their early versus advanced stages with increasing JAK2 mutation load from less than 50% to 100% and increase of MPN disease burden during life long follow-up in terms of symptomatic splenomegaly, constitutional symptoms, bone marrow hypercellularity and secondary MF. Pretreatment bone marrow biopsy in prefibrotic MPNs is of diagnostic and prognostic importance. JAK2 exon 12 mutated MPN is a distinct benign early stage PV. CALR mutated hypercellular thrombocythemia show distinct PMGM bone marrow characteristics of clustered larged immature dysmorphic megakaryocytes with bulky (bulbous) hyperchromatic nuclei, which are not seen in JAK2 mutated ET and PV. MPL mutated normocellular thrombocythemia is featured by clustered giant megakaryocytes with hyperlobulated stag-horn-like nuclei without features of PV in blood and bone marrow. Myeloproliferative disease burden in each of the JAK2, CALR and MPL MPNs is best reflected by the degree of anemia, splenomegaly, mutation allele burden, bone marrow cellularity and myelofibrosis.