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

Research output: Contribution to journalReview article

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
Pages (from-to)106-108
Number of pages3
JournalBlood cells, molecules & diseases
Volume68
DOIs
Publication statusPublished - Feb 2018

Fingerprint

Gaucher Disease
Neuroblastoma
Splenomegaly
Thrombocytopenia
Registries
Comorbidity
Bone Marrow
Biopsy
Neoplasms

Keywords

  • Adolescent
  • Bone Marrow/pathology
  • Gaucher Disease/complications
  • Genetic Testing
  • Humans
  • Male
  • Neuroblastoma/complications
  • Splenomegaly/complications
  • Thrombocytopenia/complications

Cite this

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title = "The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature",
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.",
keywords = "Adolescent, Bone Marrow/pathology, Gaucher Disease/complications, Genetic Testing, Humans, Male, Neuroblastoma/complications, Splenomegaly/complications, Thrombocytopenia/complications",
author = "Annalisa Madeo and Alberto Garaventa and Sementa, {Angela Rita} and Chiara Suffia and {Di Rocco}, Maja",
note = "Copyright {\circledC} 2016 Elsevier Inc. All rights reserved.",
year = "2018",
month = "2",
doi = "10.1016/j.bcmd.2016.11.011",
language = "English",
volume = "68",
pages = "106--108",
journal = "Blood Cells, Molecules, and Diseases",
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T1 - The unusual association between Neuroblastoma and Gaucher Disease

T2 - Case report and review of the literature

AU - Madeo, Annalisa

AU - Garaventa, Alberto

AU - Sementa, Angela Rita

AU - Suffia, Chiara

AU - Di Rocco, Maja

N1 - Copyright © 2016 Elsevier Inc. All rights reserved.

PY - 2018/2

Y1 - 2018/2

N2 - 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.

AB - 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.

KW - Adolescent

KW - Bone Marrow/pathology

KW - Gaucher Disease/complications

KW - Genetic Testing

KW - Humans

KW - Male

KW - Neuroblastoma/complications

KW - Splenomegaly/complications

KW - Thrombocytopenia/complications

U2 - 10.1016/j.bcmd.2016.11.011

DO - 10.1016/j.bcmd.2016.11.011

M3 - Review article

C2 - 27908537

VL - 68

SP - 106

EP - 108

JO - Blood Cells, Molecules, and Diseases

JF - Blood Cells, Molecules, and Diseases

SN - 1079-9796

ER -