Atypical fibroxanthoma arising in a young patient with Li‐Fraumeni syndrome

Abstract

Patients with Li-Fraumeni syndrome (LFS) have a germ-line mutation of p53 (TP53) and are predisposed to develop a variety of malignancies at an early age. In this report, we describe an 18-year-old woman with LFS who developed an atypical fibroxanthoma (AFX) on her left arm. This tumor was based in the dermis, sparsely cellular and had ill-defined borders. It was composed predominantly of medium-sized spindled-shaped cells, but many large cells with pleomorphic nuclei were also present. Immunohistochemical stains showed that the tumor cells lacked expression of keratin, S-100 protein, desmin and CD34. Array-based comparative genomic hybridization (aCGH) revealed marked genomic instability with multiple whole chromosome losses, including chromosomes 8, 10, 13 and 22, as well as a partial loss of 17p. This represents one of a few reports of a cutaneous tumor in a patient with LFS and a rare example of an AFX occurring at a young age.

Cutaneous sarcomas

“…Uncommon compared to other skin tumors, atypical fibroxanthoma (AFX) primarily occurs in elderly individuals, with a peak incidence in the seventh to eighth decade of life. The tumor is rare in young patients; here, it has largely been described in connection with tumor‐predisposing genetic disorders such as Li‐Fraumeni syndrome or xeroderma pigmentosum . Predilection sites are chronically sun‐exposed areas in the head/neck region; men are more frequently affected than women.…”

“…Der Häufi gkeitsgipfel liegt in der siebten bis achten Lebensdekade. Bei jungen Patienten sind atypische Fibroxanthome eine Rarität und zumeist in Verbindung mit zu Tumoren prädisponierenden genetischen Erkrankungen wie dem Li-Fraumeni-Syndrom oder der Xeroderma pigmentosum beschrieben [ 9 ] . Prädilektionsstellen sind chronisch sonnenexponierte Areale in der Kopf-Hals-Region, wobei Männer häufi ger betroffen sind als Frauen.…”

Slow-Growing Nodule in a Patient With Li-Fraumeni Syndrome: Answer

“…7,8 There is a well-established link between TP53 mutations and nonmelanoma skin cancers 9 ; yet surprisingly, there are little published data on cutaneous malignancies in Li-Fraumeni syndrome. [10][11][12] Given the rarity of dermatologic manifestations in Li-Fraumeni syndrome and the reported association with pleomorphic fibroma, the diagnosis of pleomorphic fibroma in a patient with a history of an early-onset malignancy warrants additional investigation for an underlying genetic cancer syndrome. In patients with Li-Fraumeni syndrome, close surveillance and frequent screening for all types of malignancy are prudent.…”

Clear cell atypical fibroxanthoma: A case report and review of the literature

“…AFX has been reported in association with Li-Fraumeni syndrome, including Xeroderma pigmentosum (30,31). Activating mutations have been found in the TP53 gene (32), in the CDKN2A gene (31) and in the promoter region of the TERT gene (27). However, due to the small number of cases, these associations may be fortuitous in CCAFX, although there is a strong association with ultraviolet radiation exposure and immunosuppression, which is the major risk factor for this tumor.…”