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Clonal chromosome anomalies affecting FLI 1 mimic inherited thrombocytopenia of the Paris‐Trousseau type
Author(s) -
Noris Patrizia,
Valli Roberto,
Pecci Alessandro,
Marletta Cristina,
Invernizzi Rosangela,
Mare Lydia,
Balduini Carlo L.,
Maserati Emanuela
Publication year - 2012
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2012.01833.x
Subject(s) - megakaryocyte , locus (genetics) , chromosomal translocation , biology , bone marrow , haematopoiesis , chromosome , clone (java method) , gene , genetics , platelet , pathology , immunology , medicine , stem cell
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 FLI 1 , a transcription factor involved in megakaryocyte differentiation and maturation. Case report 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 FLI 1 locus that was missing. Conclusion 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.