Two epithelioid malignant schwannomas in a patient with neurofibromatosis

Cutaneous epithelioid malignant peripheral nerve sheath tumour: a clinicopathological analysis of 11 cases

“…). As also confirmed in the present study, the association between cutaneous and deep soft‐tissue E‐MPNSTs and neurofibromatosis type 1 (NF1) is exceptional . In contrast, approximately 50% of ordinary MPNST arise in the setting of NF1 and the lifetime risk of MPNST development in NF1 patients has been estimated to be between 5 and 10% …”

“…As also confirmed in the present study, the association between cutaneous and deep soft-tissue E-MPNSTs and neurofibromatosis type 1 (NF1) is exceptional. [6][7][8]11 In contrast, approximately 50% of ordinary MPNST arise in the setting of NF1 24 and the lifetime risk of MPNST development in NF1 patients has been estimated to be between 5 and 10%. 25 The defining histological feature of E-MPNST is epithelioid morphology of neoplastic cells, which should represent the predominant component (e.g.…”

“…Using immunohistochemistry, E‐MPNST distinctively displays strong and diffuse nuclear S100 positivity, unlike classical MPNSTs, which typically only show focal S100 positivity in a limited number of cells in 50–80% of the tumours . In contrast to classical MPNST, occurrence from or within a pre‐existing benign peripheral nerve sheath tumour is uncommon in E‐MPNST, and the association with neurofibromatosis type 1 (von Recklinghausen's disease) is exceptional …”

“…4 In contrast to classical MPNST, occurrence from or within a pre-existing benign peripheral nerve sheath tumour is uncommon in E-MPNST, and the association with neurofibromatosis type 1 (von Recklinghausen's disease) is exceptional. [6][7][8][9][10][11] E-MPNST can be subdivided further on the basis of its occurrence/localization into the superficial (cutaneous) and deep variants. 4,7 Cutaneous E-MPNST arises within the dermis and/or subcutis.…”

A Rare Manifestation of von Recklinghausen Neurofibromatosis: Advanced Neurofibromatous Infiltration in Lung of a HIV-Positive Patient

“…In particular, various tumors -mainly in connection with the peripheral and central nervous system -are associated with neurofibromatosis such as soft-tissue sarcomas, tu mors of neural-crest-derived endocrine cell origin, em bryonal tumors and leukemia. Involvement of the lung consists mainly of development of tumors such as Schwannomas, pneumoblastomas, small cell carcinoma, various types of sarcoma, and lymphangioleiomyomatosis [4,[7][8][9], In contrast interstitial involvement of lung and of viscera other than by virtue of tumor or vascular abnormalities are very rare in NF-I [4,5],…”