The Albert Szent-Györgyi Medical School, Faculty Research Fund, Géza Hetényi Fund(5S
340 A202)
(ÚNKP-23–4-SZTE-385) Támogató: New National Excellence Program
Angiosarcoma (AS) of the breast, a rare mesenchymal neoplasm, exhibits distinct forms
based on etiological and genetic features. While cases with typical clinical presentation
and morphology allow for a straightforward diagnosis, challenges arise when clinical
data are scarce, diagnostic material is limited, or morphological characteristics
overlap with other tumors, including undifferentiated carcinomas. The trichorhinophalangeal
syndrome protein 1 (TRPS1), once regarded as highly specific for breast carcinomas,
now faces doubts regarding its reliability. This study explores TRPS1 expression in
breast AS. Our investigation revealed that 60% of AS cases displayed TRPS1 labeling,
contrasting with the 40% lacking expression. Scoring by four independent readers established
a consensus, designating 12/35 ASs as unequivocally TRPS1-positive. However, uncertainty
surrounded nine further cases due to a lack of reader agreement (being substantial
as reflected by a kappa value of 0.76). These findings challenge the perceived specificity
of TRPS1, shedding light on its presence in a noteworthy proportion of breast ASs.
Consequently, the study underscores the importance of a comprehensive approach in
evaluating breast ASs and expands the range of entities within the differential diagnosis
associated with TRPS1 labeling.