Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type

Patrizia Noris, Roberto Valli, Alessandro Pecci, Cristina Marletta, Rosangela Invernizzi, Lydia Mare, Carlo L. Balduini, Emanuela Maserati

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Introduction: 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. 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 FLI1 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.

Original languageEnglish
Pages (from-to)345-349
Number of pages5
JournalEuropean Journal of Haematology
Volume89
Issue number4
DOIs
Publication statusPublished - Oct 2012

Fingerprint

Thrombocytopenia
Chromosomes
Chromosomes, Human, Pair 11
Blood Platelets
Bone Marrow
Chromosomes, Human, Pair 3
Comparative Genomic Hybridization
Chromosomes, Human, Pair 2
Megakaryocytes
Cytogenetics
Bone Marrow Cells
Transcription Factors
Clone Cells
Thrombocytopenia Paris-Trousseau type
Hemorrhage
Genes

Keywords

  • Acquired thrombocytopenia
  • FLI1
  • Thrombocytopenia Paris-Trousseau type

ASJC Scopus subject areas

  • Hematology

Cite this

Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type. / Noris, Patrizia; Valli, Roberto; Pecci, Alessandro; Marletta, Cristina; Invernizzi, Rosangela; Mare, Lydia; Balduini, Carlo L.; Maserati, Emanuela.

In: European Journal of Haematology, Vol. 89, No. 4, 10.2012, p. 345-349.

Research output: Contribution to journalArticle

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abstract = "Introduction: 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. 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 FLI1 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.",
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