Rare Association Between Gaucher Disease and Neuroblastoma Reported in Case Study

Rare Association Between Gaucher Disease and Neuroblastoma Reported in Case Study

A new case study found an association between Gaucher disease and neuroblastoma, a type of cancer that forms in certain types of nerve tissue.

The study, “The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature,” was published in the journal Blood Cells, Molecules, and Disease.

According to the authors, this finding suggests that further research is needed on diseases co-occurring with Gaucher disease. Paying more attention to Gaucher disease in the field of blood disorders and cancer is important “to avoid under diagnosis and to optimize treatment strategies,” they wrote.

The researchers, led by Dr. Maja Di Rocco of the Unit of Rare Diseases in the Department of Pediatrics at Giannina Gaslini Institute in Genoa, Italy, report the case of an 18-year-old male who went to the hospital with pain in his left leg after exercise.

After a month of severe pain he underwent a spinal MRI and was diagnosed with neuroblastoma. He also had an enlarged spleen and persistently low platelets in his blood, which are symptoms of Gaucher disease. After his bone marrow was biopsied and analyzed, the teen was diagnosed with Gaucher disease. The diagnosis was also confirmed by enzymatic and genetic tests.

The patient was treated with enzyme replacement therapy as well as a routine treatment protocol for high-risk metastatic neuroblastoma, including chemotherapy and surgery.

“The boy is presently alive at the completion of therapy for [neuroblastoma],” the authors wrote.

Previous research has shown that Gaucher disease patients have an increased risk of cancer, especially blood cancers such as multiple myeloma, leukemia, Hodgkin’s lymphoma, and non-Hodgkin’s lymphoma. Other types of cancers have also been described in people with Gaucher disease, including bone, liver, kidney, brain, testis, prostate, colon, and skin cancer.

However, this appears to be the first case of neuroblastoma associated with Gaucher disease.

The authors noted that this association may be due to chance in the case of this teenager.

“But it is also possible [it is due to] an under diagnosis due to lack of experience or to poor prognosis of [neuroblastoma], so that some patients may have died before developing [Gaucher disease] clinical manifestations,” they wrote.

They concluded that data collection and analysis, possibly through an international patient registry, are needed to investigate the association between Gaucher disease and other associated conditions.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.

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