Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

Flach, Johanna; Dicker, Frank; Schnittger, Susanne; Kohlmann, Alexander; Haferlach, Torsten; Haferlach, Claudia

doi:10.3324/haematol.2009.013631

Cited by 42 publications

(21 citation statements)

References 11 publications

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“…The above results were more recently confirmed by Flach et al 30 who detected the JAK2 (V617) mutation in 15 out of 19 (79%) patients with RARS-T. By contrast, none of 19 patients analyzed carried mutations in exons 8 and 9 of CBL. Interestingly, somatic mutations of TET2 were detected in 5 out of 19 (26%) patients, of which 3 out of 5 also carried JAK2 (V617F).…”

Section: *Information On Who 2008 Criteria Is From Orazi Et Alsupporting

confidence: 76%

Molecular basis of myelodysplastic/myeloproliferative neoplasms

Reiter

Invernizzi²,

Cross³

et al. 2009

Haematologica

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Section: *Information On Who 2008 Criteria Is From Orazi Et Alsupporting

confidence: 76%

Molecular basis of myelodysplastic/myeloproliferative neoplasms

Reiter

Invernizzi²,

Cross³

et al. 2009

Haematologica

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“…50 More importantly, 11 of 19 (58%) patients with RARS-T carried JAK2 or MPL mutations in circulating granulocytes, whereas these somatic mutations were not detected in any of the RARS patients. These results were confirmed by Flach et al, who detected the JAK2 (V617) mutation in 15 of 19 (79%) patients with RARS-T. 51 In contrast, none of the 19 patients analyzed carried CBL mutations. Interestingly, somatic mutations of TET2 were detected in 5 of 19 (26%) patients, of which 3 of 5 also carried JAK2 (V617F).…”

Section: Molecular Basis Of Rars and Rars-tsupporting

confidence: 79%

Myelodysplastic/Myeloproliferative Neoplasms

Cazzola¹,

Malcovati²,

Invernizzi

2011

Hematology

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According to the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, myelodysplastic/myeloproliferative neoplasms are clonal myeloid neoplasms that have some clinical, laboratory, or morphologic findings that support a diagnosis of myelodysplastic syndrome, and other findings that are more consistent with myeloproliferative neoplasms. These disorders include chronic myelomonocytic leukemia, atypical chronic myeloid leukemia (BCR-ABL1 negative), juvenile myelomonocytic leukemia, and myelodysplastic/ myeloproliferative neoplasms, unclassifiable. The best characterized of these latter unclassifiable conditions is the provisional entity defined as refractory anemia with ring sideroblasts associated with marked thrombocytosis. This article focuses on myelodysplastic/myeloproliferative neoplasms of adulthood, with particular emphasis on chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts associated with marked thrombocytosis. Recent studies have partly clarified the molecular basis of these disorders, laying the groundwork for the development of molecular diagnostic and prognostic tools. It is hoped that these advances will soon translate into improved therapeutic approaches.

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“…This might be a reflection of the heterogeneity of RARS-T. For example, recently it has been shown that approximately 25% of RARS-T patients also have a TET2 mutation, although its prognostic impact is unknown. 21 In conclusion, the clinical and molecular response of RARS-T patients on lenalidomide gives good reason to identify this subgroup of patients for upfront treatment with lenalidomide. For personal use only.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis

Huls¹,

Mulder²,

Rosati

et al. 2010

Blood

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Patients with refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) are difficult to treat because the cytoreductive treatment might be beneficial for the thrombocytosis component but harmful for the RARS component. As lenalidomide has shown to be efficacious in both myelodysplastic syndromes and myeloproliferative neoplasms, we have treated 2 RARS-T patients, who were transfusion dependent, with lenalidomide. We report the results of lenalidomide treatment in these patients and show that lenalidomide has clinical activity in this rare disorder. Both patients became transfusion independent, and 1 of the patients attained indeed a complete molecular remission. (Blood. 2010;116(2):180-182)

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Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

Cited by 42 publications

References 11 publications

Molecular basis of myelodysplastic/myeloproliferative neoplasms

Molecular basis of myelodysplastic/myeloproliferative neoplasms

Myelodysplastic/Myeloproliferative Neoplasms

Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis

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