scholarly journals Myeloproliferative Neoplasms: The Long Wait for JAK2-Mutant Clone Expansion

2021 ◽  
Vol 28 (3) ◽  
pp. 359-361
Author(s):  
Damien Luque Paz ◽  
Peter Ashcroft ◽  
Radek C. Skoda
2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Sarah A. Carratt ◽  
Diana Brewer ◽  
Julia E. Maxson ◽  
Brian J. Druker ◽  
Theodore P. Braun

Abstract Background Chronic myeloid leukemia (CML) and chronic neutrophilic leukemia (CNL) are two myeloproliferative neoplasms with mutually exclusive diagnostic criteria. A hallmark of CML is the Philadelphia chromosome (Ph), which results in a BCR-ABL1 fusion gene and constitutive tyrosine kinase activity. CNL is a Ph-negative neoplasm and is defined in part by the presence of CSF3R mutations, which drive constative JAK/STAT signaling. Case presentation Here, we report the exceedingly rare co-occurrence of two granulocytic myeloproliferative neoplasms in a 69-year old male patient. After an initial diagnosis of chronic myeloid leukemia, the patient’s clinical course was shaped by hematologic toxicity, the emergence of treatment-resistant BCR-ABL1 clones, and the expansion of a CSF3R-mutant clone without ABL1 mutations under selective pressure from tyrosine kinase inhibitors. The emergence of the CSF3R-mutant, neutrophilic clone led to the diagnosis of CNL as a second myeloproliferative neoplasm in the same patient. Conclusions This is the first reported case of CNL arising subsequent to CML, which occurred under selective pressure from targeted therapy in a patient with complex clonal architecture. Patients with such molecularly complex disease may ultimately benefit from combination therapy that targets multiple oncogenic pathways.


2011 ◽  
Vol 17 (1) ◽  
pp. 12-16 ◽  
Author(s):  
Rodrigo Lopes da Silva ◽  
Patricia Ribeiro ◽  
Alexandra Lourenço ◽  
Susana Costa Santos ◽  
Margarida Santos ◽  
...  

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Mounia Bendari ◽  
Nouama Bouanani ◽  
Mohamed Amine Khalfaoui ◽  
Maryam Ahnach ◽  
Aziza Laaraj ◽  
...  

The myelodysplastic syndrome-myeloproliferative neoplasms (MDS/MPNs) are defined by a group of heterogeneous hematological malignancies resulting from stem cell−driven clonal growth of pathological hematopoietic progenitors and ineffective hematopoiesis, they are characterized concomitant myelodysplastic and myeloproliferative signs. Myelodysplastic/myeloproliferative disorders have been considered to have a higher risk of thrombus formation.We report a rare case about a 64 years old Moroccan woman, experienced renal infarction (RI) associated with pulmonary embolism as a complication of a myelodysplastic/myeloproliferative disorder.The patient complained of acute-onset severe left flank pain, a contrast-enhanced computed tomography (CT) of the chest and abdomen revealed RI by a large wedge-shaped defect in the right kidney with pulmonary embolism.Biological exam showed deep anemia, the bone marrow aspiration found myelodysplasia.the bone biopsy showed signs of myeloproliferatif disease. The karyotype was normal, BCR-ABL, JAK2, CALR mutations were absents, and MPL mutation was positive. The International Prognostic Scoring System (IPSS-R) was 0, and the patient was included to the low risk group.Anticoagulation therapy was initiated with heparin to treat RI and pulmonary embolism. Three months later, pulmonary embolism had resolved without the appearance of additional peripheral infarction.This case emphasizes the need to consider myelodysplastic/myeloproliferative disorders as a cause of infraction renal and pulmonary embolism.


2019 ◽  
Vol 50 (3) ◽  
pp. 142-146
Author(s):  
Joanna Góra-Tybor

StreszczenieCiąża u pacjentki z nowotworem mieloproliferacyjnym (myeloproliferative neoplasms – MPN) BCR-ABL ujemnym wiąże się z szeregiem możliwych powikłań dotyczących zarówno matki, jak i płodu, takich jak: częstsze powikłania zakrzepowe i krwotoczne u matki, zwiększone ryzyko poronień, częstsze dysfunkcje łożyska i związane z nimi: opóźnienie wzrostu płodu, porody przedwczesne, późne utraty płodu. Opieka nad ciężarną z MPN wymaga ścisłej współpracy specjalistów hematologa i ginekologa oraz wdrożenia postępowania zgodnego z obowiązującymi standardami (właściwej profilaktyki przeciwzakrzepowej i ewentualnego leczenia cytoredukcyjnego). W artykule omówiono aktualne zalecenia dotyczące monitorowania i terapii w trakcie ciąży i okresie połogu u kobiety z MPN.


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