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01.12.2014 | Myeloproliferative Disorders (C Harrison, Section Editor)

Back to Biology: New Insights on Inheritance in Myeloproliferative Disorders

verfasst von: Evan M. Braunstein, Alison R. Moliterno

Erschienen in: Current Hematologic Malignancy Reports | Ausgabe 4/2014

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Abstract

The myeloproliferative disorders (MPDs) are a group of hematologic diseases with significant overlap in both clinical phenotype and genetic etiology. While most often caused by acquired somatic mutations in hematopoietic stem cells, the presence of familial clustering in MPD cases suggests that inheritance is an important factor in the etiology of this disease. Though far less common than sporadic disease, inherited MPDs can be clinically indistinguishable from sporadic disease. Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis. Study of the function of these mutant proteins has led to a new understanding of the biological mechanisms that produce myeloproliferative disease. In this review, we summarize the data regarding inherited mutations that cause or predispose to MPDs, with a focus on the biological effects of mutant proteins. We propose that defining inherited MPDs in this manner has the potential to simplify diagnosis in a group of disorders that can be difficult to differentiate clinically.
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Metadaten
Titel
Back to Biology: New Insights on Inheritance in Myeloproliferative Disorders
verfasst von
Evan M. Braunstein
Alison R. Moliterno
Publikationsdatum
01.12.2014
Verlag
Springer US
Erschienen in
Current Hematologic Malignancy Reports / Ausgabe 4/2014
Print ISSN: 1558-8211
Elektronische ISSN: 1558-822X
DOI
https://doi.org/10.1007/s11899-014-0232-3

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Die erste Phase-3-Studie zum Nutzen von ASS in der adjuvanten Therapie des kolorektalen Karzinoms ist negativ verlaufen. Das abschließende Urteil über eine Sekundärprävention mit ASS ist trotzdem noch nicht gefallen.

Frühe CLL-Therapie: BTK-Hemmer verlängert EFS und PFS, aber nicht OS

Auch nach sechs Jahren ergibt sich kein Überlebensvorteil einer Therapie mit dem BTK-Hemmer Ibrutinib für Menschen mit frühem CLL-Stadium und erhöhtem Progressionsrisiko. Die Progressionsrate wird mit der Behandlung jedoch um über 80% gesenkt.

Adjuvantes Atezolizumab ohne Nutzen bei frühem TNBC

Patientinnen mit frühem triple-negativem Brustkrebs profitieren nach der Operation offenbar nicht von einer Zugabe des PD-L1-Hemmers Atezolizumab zur adjuvanten Standardchemotherapie. Die Studie, die das untersucht hat, wurde vorzeitig abgebrochen. Was könnte die schlechte Wirksamkeit erklären?

Update Onkologie

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