Progression of myeloproliferative neoplasms to myelofibrosis and acute leukaemia

Kreipe, Hans; Hussein, Kais; Göhring, Gudrun; Schlegelberger, Brigitte

doi:10.1007/s12308-011-0096-6

Cited by 16 publications

(10 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Whether this case of sporadic MPL S505N ET resembles that of the familial disease harbouring this mutation remains to be seen. Close monitoring is planned with further surveillance BM biopsies required to assess levels of reticulin, an important indicator of myelofibrotic transformation in ET [18, 19]. …”

Section: Discussionmentioning

confidence: 99%

Nonfamilial,MPLS505N-Mutated Essential Thrombocythaemia

Morrell

Langabeer

Smyth

et al. 2013

Case Reports in Hematology

View full text Add to dashboard Cite

Mutations of MPL are present in a significant proportion of patients with the myeloproliferative neoplasms (MPN), primary myelofibrosis (PMF), and essential thrombocythaemia (ET). The most frequent of these mutations, W515L and W515K, occur in exon 10 of MPL, which encodes the receptor for thrombopoietin. Another exon 10 mutation, MPL S505N, has been shown to be a founder mutation in several pedigrees with familial thrombocythaemia where it is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis. Rare cases of sporadic, nonfamilial, MPL S505N MPN have been documented, but the presenting laboratory and clinical features have not been described in detail. The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis. Further MPN cases possessing this genotype require reporting in order to ascertain whether any particular morphological or clinical features, if present, determine clinical course and aid the refinement of therapeutic options.

show abstract

Section: Discussionmentioning

confidence: 99%

Nonfamilial,MPLS505N-Mutated Essential Thrombocythaemia

Morrell

Langabeer

Smyth

et al. 2013

Case Reports in Hematology

View full text Add to dashboard Cite

show abstract

“…During the phase of progression, transition to an MDS/MPN phenotype preceding transformation is often parallelled by development of a complex karyotype typical for secondary AML. 5 It should also be noted that extramedullary blast proliferation indicates blast phase and that the marrow findings may be discordant.…”

Section: Approach To Diagnosismentioning

confidence: 99%

An update on BCR-ABL1-negative myeloproliferative neoplasms

Walt

2015

Diagnostic Histopathology

View full text Add to dashboard Cite

“…2,3 It is not clear whether the transition from hypercellularity to cytopenia in MPN can be explained by fibrotic scarring of the bone marrow alone or whether this development is related to clonal evolution and acquisition of MDS-like mutations. 4 To answer this question, we analyzed follow-up biopsies from 4 patients with PMF (according to the World Health Organization 5 ), fully developed myelofibrosis, cytopenia, and SRSF2 mutation (Table 1). Previous biopsies that had been taken 2 to 5 years before were devoid of fibrosis.…”

Section: To the Editormentioning

confidence: 99%

“…3,4 However, ADAMTS13 deficiency alone is not sufficient for the development of TMAs. Our group has shown that exposure to both the pharmacologic levels of ticlopidine and plasma from patients with ticlopidine TMAs induces apoptosis in primary human microvascular endothelial cells, suggesting that ticlopidine-induced endothelial cell apoptosis is a provoking factor in ticlopidine TMAs.…”

Section: 2mentioning

confidence: 99%