title: Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.
abstract: BACKGROUND
  The thrombocytopenia of the Paris-Trousseau (TCPT) type is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), abnormal giant alpha-granules in platelets and dysmegakaryopoiesis: it derives from a constitutional deletion of chromosome 11 leading to the loss of FLI1, a transcription factor involved in megakaryocyte differentiation and maturation.
  
  
  METHODS
  A women with an acquired, isolated THC developing over 10 yr showed morphological features typical of TCPT in platelets and bone marrow (BM). Twenty years after the onset of THC, the other hematological parameters are still normal and the patient is well.
  
  
  RESULTS
  Clonal hemopoiesis was shown and chromosome analyses performed on BM revealed a clone with 45 chromosomes and a complex unbalanced translocation involving chromosomes 2, 3, and 11. The anomaly was present in the majority of bone marrow cells but only in a few peripheral blood elements. A microarray-based comparative genomic hybridization defined the deleted region of chromosome 11 including the FLI1 locus that was missing.
  
  
  CONCLUSIONS
  Although our patient presented with nearly all the characteristics of TCPT, her illness was acquired instead of being inherited and the most appropriate diagnosis is that of the unilineage dysplasia 'refractory THC.' This observation suggests that appropriate cytogenetic investigations should be always considered in patients with acquired THC of unknown origin.
authors: Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy. p.noris@smatteo.pv.it
authors: Patrizia
authors: P
authors: Noris
authors: Roberto
authors: R
authors: Valli
authors: Alessandro
authors: A
authors: Pecci
authors: Cristina
authors: C
authors: Marletta
authors: Rosangela
authors: R
authors: Invernizzi
authors: Lydia
authors: L
authors: Mare
authors: Carlo L
authors: CL
authors: Balduini
authors: Emanuela
authors: E
authors: Maserati
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000235:genetics*; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics*
chemical_list: C078433:FLI1 protein, human; D051789:Proto-Oncogene Protein c-fli-1