Do somatic mutations in de novo MDS predict for response to treatment?

Mark A. Schroeder, Amy Dezern

Research output: Contribution to journalArticle

Abstract

A 68-year-old male with history of hypertension and arthritis presented with bruising and increasing fatigue over several months. He was found to be thrombocytopenic (platelets 30), WCB 2.0 K/mm3, Hg 11.6 g/dL, ANC 870, and 1% circulating blasts. Bone marrow biopsy revealed 40%-50% cellular with multilineage dysplasia and 10% blasts. Cytogenetic genetic studies showed trisomy 2, and translocation (3;21). FISH studies for 5q, 7p, 8, 17p, and 20q abnormalities were negative. Molecular diagnostics were sent to a commercial laboratory to aid in prognostication. These studies showed mutations in TET2 (exons 1-9 tested) and PHF6 (exons 1-9 tested). No abnormalities in other epigenetic regulators (DNMT3A, ASXL1), RNA splicing (SF3B1, SRSF2, URAF1, ZRSR2), transcription factors (RUNX1 or ETV6), or signaling (CBL, NRAS, KIT, JAK2, MPL) were detected. He was referred for consultation regarding initial treatment. In this elderly patient with preserved organ function and good performance status who is being considered for reduced intensity conditioned allogeneic hematopoietic cell transplant, what should the initial treatment be and can we use the molecular diagnostic results to guide therapy?

Original languageEnglish (US)
Pages (from-to)317-328
Number of pages12
JournalHematology
Volume2015
Issue number1
StatePublished - Dec 5 2015

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Molecular Pathology
Mutation
Exons
RNA Splicing
Trisomy
Epigenomics
Cytogenetics
Arthritis
Fatigue
Transcription Factors
Therapeutics
Referral and Consultation
Blood Platelets
Bone Marrow
Hypertension
Transplants
Biopsy
ANC 1

ASJC Scopus subject areas

  • Medicine(all)
  • Hematology

Cite this

Do somatic mutations in de novo MDS predict for response to treatment? / Schroeder, Mark A.; Dezern, Amy.

In: Hematology, Vol. 2015, No. 1, 05.12.2015, p. 317-328.

Research output: Contribution to journalArticle

Schroeder, Mark A. ; Dezern, Amy. / Do somatic mutations in de novo MDS predict for response to treatment?. In: Hematology. 2015 ; Vol. 2015, No. 1. pp. 317-328.
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