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

Stefania Erra; Corinna Pizio; Ennio Nano

doi:10.30574/gscbps.2020.12.3.0306

Authors

Stefania Erra Surgical Pathology Department, Santo Spirito Hospital, Viale Giolitti 2, Casale Monferrato, Italy.
Corinna Pizio Surgical Pathology Department, Santo Spirito Hospital, Viale Giolitti 2, Casale Monferrato, Italy.
Ennio Nano Surgical Pathology Department, Santo Spirito Hospital, Viale Giolitti 2, Casale Monferrato, Italy.

DOI:

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

Keywords:

Neurofibromatosis type 1, Malignant spiradenoma, Neurofibromin, Ras-pathway, NF-kB pathway

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, café-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.

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