A familial dermatofibrosarcoma protuberans

Analysis of germline and tumor mutations of p53 gene in familial occurrence of soft tissue sarcomas

“…Among them, 50 patients developed primary sarcomas, but the occurrence of sarcoma between siblings happened in only one family [7]. Familial soft tissue sarcomas, with the exception of Li-Fraumeni syndrome, are extremely rare: there are only two other reports in the literature [8,9]. Familial occurrence of high-grade soft tissue sarcomas like our cases have not been previously reported.…”

Familial Dermatofibrosarcoma Protuberans: A Nonfortuitous Association?

“…DFSP is easily dismissed by patient and physician as a benign skin condition not requiring biopsy. Even though there had been only one familial report, the cases presented in this work suggest that DFSP, as with many other tumors, may have some form of genetical inheritance in its etiology. We hypothesize that the originating event (the translocation) would probably be present in the tumor tissue but not in the germline, because in that case, the patients would probably have had multiple tumors earlier in life.…”

“…During the last decade, there has been much research on the cytogenetics of DFSP with identification of the t(17;22)(q22;q13) chromosomal translocation, which is present in approximately 70% of cases and gives rise to a fusion between collagen gene COL1A1 and platelet‐derived growth factor beta chain gene . Notwithstanding, inheritance of the disease has not been described, and to our knowledge, there is only one report in the current literature of a familial case of DFSP affecting a father and son . We present two cases of familial DFSP affecting two mothers and their respective daughters.…”

First reported case of dermatofibrosarcoma in siblings

“…Only three familial cases (all parent and child) of DFSP have been reported in the literature, and to our knowledge, sibling cases have never been reported. We present the cases of two siblings with DFSP.…”