title: Detection of mi transcription factor (MITF) mRNA in a case of myelodysplastic syndrome and bone marrow mastocytosis.
abstract: Myelodysplastic syndromes (MDS) may be accompanied by systemic mastocytosis. The mechanisms which play a role in the evolution of mastocytosis, however, are not well understood. We report on a case of refractory and anemia with ringed sideroblasts (RARS), and co-existing bone marrow mastocytosis. Compact mast cell (MC) infiltrates were detected in bone marrow sections by immunohistochemistry using an antibody to tryptase. In addition, the MC were found to express c-kit, the tyrosine kinase receptor for MGF (mast cell growth factor = stem cell factor, SCF). Activating point mutations in the kinase domain of c-kit (often found in mastocytosis) were not detectable. However, the mononuclear cells (MNC) of the bone marrow expressed mRNA specific for MITF, a transcription factor that regulates expression of c-kit and differentiation of MC. Surprisingly, the c-kit ligand SCF was found to augment expression of MITF mRNA in bone marrow MNC. Whether this augmentation represents a general response (preventing loss of growth factor receptor expression during cell maturation) common to all types of hemopoietic progenitors, or is confined to (some forms of) mastocytosis, remains unknown.
authors.affiliation: Department of Internal Medicine I, University of Vienna, Austria.
authors.forename: F
authors.initials: F
authors.lastname: Wimazal
authors.forename: S
authors.initials: S
authors.lastname: Walchshofer
authors.forename: M
authors.initials: M
authors.lastname: Baghestanian
authors.forename: A
authors.initials: A
authors.lastname: Chott
authors.forename: W R
authors.initials: WR
authors.lastname: Sperr
authors.forename: C
authors.initials: C
authors.lastname: Kopp
authors.forename: C
authors.initials: C
authors.lastname: Sillaber
authors.forename: H
authors.initials: H
authors.lastname: Semper
authors.forename: H P
authors.initials: HP
authors.lastname: Horny
authors.forename: U
authors.initials: U
authors.lastname: Tröndle
authors.forename: M
authors.initials: M
authors.lastname: Födinger
authors.forename: I
authors.initials: I
authors.lastname: Schwarzinger
authors.forename: K
authors.initials: K
authors.lastname: Lechner
authors.forename: P
authors.initials: P
authors.lastname: Valent
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics / Q000473:pathology; D000756:Anemia, Sideroblastic / Q000235:genetics / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology*; D004268:DNA-Binding Proteins / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D008297:Male; D008407:Mast Cells / Q000473:pathology; D008415:Mastocytosis / Q000175:diagnosis / Q000235:genetics*; D051739:Microphthalmia-Associated Transcription Factor; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics*; D019089:Stem Cell Factor / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D012333:RNA, Messenger; D019089:Stem Cell Factor; D014157:Transcription Factors; D019009:Proto-Oncogene Proteins c-kit