Is Fabry disease associated with leukaemia?

Cybulla, Markus; Kleber, Martina; Walter, Kerstin; Kroeber, Sandra; Neumann, H. P. H.; Engelhardt, Monika

doi:10.1111/j.1365-2141.2006.06282.x

Cited by 10 publications

(11 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In addition to our four meningioma cases, three hematologic malignancies [12], [13] and three cases of renal carcinoma [14], [15], [16] have also been reported. Interestingly, all four of our meningioma cases occurred in female Fabry patients; none reported any family history of neurofibromatosis.…”

Section: Discussionsupporting

confidence: 56%

See 1 more Smart Citation

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Thurberg

Germain

Perretta³

et al. 2017

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Two of the cases are from the same family and shared the same GLA mutation. All four patients underwent surgical excision of their tumor. High resolution light microscopy and electron microscopy examination of one case revealed extensive involvement of tumor cells and associated blood vessels by GL-3 accumulation. Because of the small number of Fabry-associated cancer cases reported in the literature, questions about a possible link between lysosomal storage disorders and the development of malignancy remain open.

show abstract

Section: Discussionsupporting

confidence: 56%

“…Of the 9 cases, 3 patients received a cancer diagnosis prior to the diagnosis of their metabolic disorder: one 6 years later, one 37 years later, and one post-mortem [12], [15]. A fourth case was not diagnosed until features of Fabry pathology were noted in the kidney resected with the tumor mass [14].…”

Section: Discussionmentioning

confidence: 99%

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Thurberg

Germain

Perretta³

et al. 2017

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

show abstract

“…Several inherited metabolic diseases are associated with increased cancer risk, for example, two patients with Fabry disease have been reported with acute leukemia (myeloid in one, and lymphocytic in the other), perhaps due to similar mechanisms as in GD1, due to excessive accumulation of glycosphingolipid [21]. However, Type 1 GD is unique among lysosomal storage diseases in having a strong association with an increased risk of multiple myeloma and other hematological as well as nonhematological malignancies [14,17,18].…”

Section: Discussionmentioning

confidence: 99%

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype

Stein

Mullaly³

et al. 2010

American J Hematol

View full text Add to dashboard Cite

In Gaucher disease (GD), inherited deficiency of lysosomal glucocerebrosidase due to mutations in GBA1 gene results in accumulation of glucosylceramide in tissue macrophages, systemic macrophage activation, and a complex multisystemic phenotype. We and others have reported an increased risk of multiple myeloma and other malignancies in non-neuronopathic Type 1 GD (GD1). Here, we describe a subset of GD1 patients with multiple malignancies. In our cohort of 403 patients with GD1, nine patients (2.2%) developed two or three different types of cancers either consecutively or simultaneously. Patients were characterized by age at diagnosis of GD1, GBA1 genotype, disease severity, age at cancer diagnosis, enzyme replacement therapy (ERT) status, and splenectomy status. Of the nine patients, six developed two types of malignancies and three had three cancers each. Overall, the hematologic malignancies comprised lymphoma/leukemia (4) and multiple myeloma (4). Nonhematologic malignancies included colon (2), lung (2), thyroid (2), and prostate cancer (1). Of the seven patients who received ERT, the first cancer was diagnosed before initiation of ERT in all but one. Asplenic patients were more likely to have single or multiple cancers compared with patients with intact spleens (P < 0.0072 and P < 0.0203, respectively). Our data strengthen the association of GD1 and cancer and suggest that patients may be at risk of developing multiple malignancies. We found an association between splenectomy and multiple cancers in GD1. It will be of interest to determine whether timely ERT and declining rates of splenectomy will translate into declining rates of multiple and single cancers. Am. J. Hematol. 85:340-345, 2010. V

show abstract

“…Although we present a single case, the possible correlation between RCC and FD is further sustained by the early onset of this tumor (50 years; median age for RCC 60–70 years) [12] and its rapid growth. As already proposed [13], only perspective studies will be able to clarify if FD patients have an incremental oncologic risk. Considering the bilateral presentation of the previous FD-related RCC in the literature, we will monitor the patient with a strong and seriated follow-up.…”

Section: Discussionmentioning

confidence: 99%

Possible Pathogenetic Relationship between Fabry Disease and Renal Cell Carcinoma

Pagni¹,

Pieruzzi²,

Zannella³

et al. 2012

Am J Nephrol

View full text Add to dashboard Cite

The occurrence of renal cell carcinoma (RCC) in Fabry disease (FD) is a rare event. We report a deep ultrastructural study of RCC in a patient with a previous histological diagnosis of FD. In order to highlight analogies and differences between the two histological samples, we used the nephrectomy specimen as a ‘repeat biopsy’, making a dynamic analysis of the evolution of the disease-related kidney damage. Secondly, a comparative ultrastructural analysis between non-neoplastic tissue and cancer demonstrated for the first time the presence of zebra bodies in the tumor cells. Finally, a hypothetical speculation about the relationship between the lysosomal accumulation, the oxidative damage and the genesis of the tumor was performed. The link connected the accumulation of glycosphingolipid globotriaosylceramide, characteristic of FD, with the expression of CD74 and macrophage migration inhibitory factor that may play an important role in tumorigenesis regulated by the Von Hippel-Lindau/hypoxia-inducible factor 1α pathway.

show abstract

Is Fabry disease associated with leukaemia?

Cited by 10 publications

References 3 publications

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype

Possible Pathogenetic Relationship between Fabry Disease and Renal Cell Carcinoma

Contact Info

Product

Resources

About