Familial polycythemia vera with non-germ line JAK2V617F mutation sparing the abnormal and clonal granulopoiesis

Hussein, Kais; Ballmaier, Matthias; Göhring, Gudrun; Steinemann, Doris; Lehmann, Ulrich; Kemper, Jonas; Buhr, T.; Kreipe, Hans

doi:10.1038/sj.leu.2404846

Cited by 12 publications

(6 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Then, JAK2 (V617F) may occur as a secondary genetic event in the background of pre-existing clonal haematopoiesis. Clonal haematopoiesis was demonstrated also in the absence of JAK2 (V617F) mutation [30,97].…”

Section: Jak2 (V617f) Is a Secondary Genetic Eventmentioning

confidence: 99%

Familial chronic myeloproliferative disorders: the state of the art

Rumi

2008

Hematological Oncology

View full text Add to dashboard Cite

Familial chronic myeloproliferative disorders are defined when in the same pedigree at least two relatives have a chronic myeloproliferative disorder (CMD) as polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF). This condition should be distinguished from inherited disorders with Mendelian transmission and single haematopoietic lineage proliferation, named hereditary erythrocytosis and thrombocytosis. The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. In familial CMD, the JAK2 mutations are acquired and occur as secondary genetic events. As both mutations of the JAK2 gene have been reported in the same pedigree, a genetic predisposition to the acquisition of the JAK2 mutations is supposed to be inherited. The prevalence of familial cases within CMD is at least 7.6%. The inheritance pattern of familial CMD is consistent with an autosomal dominant trait with decreased penetrance. The clinical presentation at diagnosis of patients with familial CMD does not differ from that of patients with sporadic CMD. In addition, patients with familial CMD develop the same type of complications (thrombosis and haemorrhage) and disease evolution (post-PV myelofibrosis, post-ET myelofibrosis and leukaemia) observed in patients with sporadic CMD. The 10-year survival is 83% for patients with familial PV, 100% for those with familial ET, and 30% for those with familial PMF. The aim of this review is to focus the state of the art of familial CMD and to offer an overview of inherited conditions causing erythrocytosis and thrombocytosis.

show abstract

Section: Jak2 (V617f) Is a Secondary Genetic Eventmentioning

confidence: 99%

Familial chronic myeloproliferative disorders: the state of the art

Rumi

2008

Hematological Oncology

View full text Add to dashboard Cite

show abstract

“…25 Use non-hematopoietic tissue for germline analysis, for example, oral epithelia or others. 26 3.3.2 Can a genetic test in the index patient save genetic or other tests in family members? Depends on the platelet counts of other family members, but genetic testing should be performed, particularly if the index patient carries a thrombocythemia-associated mutation.…”

Section: Will the Results Of A Genetic Test Influence Lifestyle And Prmentioning

confidence: 99%

Clinical utility gene card for: Hereditary thrombocythemia

et al. 2013

View full text Add to dashboard Cite

“…16,17 The home page of MPN&MPNr-EuroNet (COST Action BM0902) provides addresses of European laboratories, which perform mutation analysis for familial erythrocytosis: http:// www.mpneuronet.eu/ 3.1.2 Describe the burden of alternative diagnostic methods to the patient. Low: blood collection is required for mutation analyses but also for evaluation of red cell parameters and EPO level.…”

Section: Commentmentioning

confidence: 99%