The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature

Annalisa Madeo, Alberto Garaventa, Angela Rita Sementa, Chiara Suffia, Maja Di Rocco

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Gaucher disease (GD) patients have an increased risk of cancer, in particular of hematological origin, while the association between GD and Neuroblastoma (NBL) has never been described. Here we report the case of an adolescent diagnosed with NBL, also presenting splenomegaly and persistent thrombocytopenia. The association with GD, suggested by the histological findings on bone marrow biopsy, was confirmed by enzymatic and genetic tests. The possible pathogenetic mechanisms are briefly reviewed. The evidence of this new association supports the necessity of further studies on GD comorbidities and the need of systematic data collection and analysis, potentially through an international registry.A greater attention for GD in the hemato-oncological field is needed, in order to avoid underdiagnosis and to optimize treatment strategies.

Original languageEnglish
JournalBlood Cells, Molecules, and Diseases
DOIs
Publication statusAccepted/In press - Sep 22 2016

Fingerprint

Gaucher Disease
Neuroblastoma
Splenomegaly
Thrombocytopenia
Registries
Comorbidity
Bone Marrow
Biopsy
Neoplasms

Keywords

  • Adolescent
  • Cancer pathogenesis
  • Gaucher disease
  • Neuroblastoma
  • Sphingolipids

ASJC Scopus subject areas

  • Molecular Medicine
  • Hematology
  • Molecular Biology
  • Cell Biology

Cite this

The unusual association between Neuroblastoma and Gaucher Disease : Case report and review of the literature. / Madeo, Annalisa; Garaventa, Alberto; Sementa, Angela Rita; Suffia, Chiara; Di Rocco, Maja.

In: Blood Cells, Molecules, and Diseases, 22.09.2016.

Research output: Contribution to journalArticle

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