Malignant spiradenoma in a patient with Recklinghausen syndrome: a potential association

Stefania Erra Stefania Erra,Corinna Pizio Corinna Pizio,Ennio Nano Ennio Nano

doi:10.30574/gscbps.2020.12.3.0306

Stefania Erra Stefania Erra, Corinna Pizio Corinna Pizio + Show 1 more

Open Access

https://doi.org/10.30574/gscbps.2020.12.3.0306

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Abstract

Recklinghausen syndrome or neurofibromatosis type 1(NF1) is a hereditary condition transmitted with a dominant autosomal inheritance pattern. It’s a systemic disorder characterized by involvements of skin, nerves, bone, soft tissues, iris and nervous system. Specifically a mutation of one allele of the oncosoppressor gene NF1 is the cause of the syndrome. Manifestations of neurofibromatosis include: benign tumors like neurofibromas, pheocromocytoma, juvenile xanthogranulomas, Lisch nodules, cafe-au-lait macules and freckles. Neurofibromatosis also correlates with an increased risk for malignant tumors like malignant melanoma, leukemia, brain gliomas. In this manuscript we report the association of NF1 with a malignant spiradenoma. A literature review has been made to investigate a possible correlation between these two entities.

Highlights

NF1 is a genetic syndrome caused by the loss of either alleles of the tumor suppressor gene NF1
Additional losses of other oncosoppressor genes and constitutional activation of oncogenes are responsible for carcinogenesis of malignant peripheral nerve sheath tumors, another condition associated with neurofibromatosis [1]
Neurofibromin is ubiquitously expressed among cell types but its degree of expression depends on developmental stage of the organism and cell type

Summary

Introduction

NF1 is a genetic syndrome caused by the loss of either alleles of the tumor suppressor gene NF1. NF 1, typically, has an autosomal dominant pattern of inheritance and in 50% of the cases can be explained by acquisition of a mutated allele in the germinal lineage These patients have a familiar history for neurofibromatosis. One cell population shows key features of benign eccrine spiradenoma, from which the malignant spiradenoma arises These features comprehend: nest of basaloid or pale cells, with vesicular nuclei and pale cytoplasm, tubular structures with double epithelial lining [3]. Immunohistochemical profile of the tumor (CK8/18+, CK20-, p53+, CEA-) confirmed its skin-adnexa origin and Ki67 assessed its mitotic activity that scored an average value of 50% This last finding suggested a final diagnosis of low-grade malignant spiradenoma

Discussion

Findings

Conclusion

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