BRCA2 mutation + TP53 mutation

Multigene tests are essential in the treatment approach to young BC patients, since the detection of specific mutations may help guide changes in preventive measures and treatment plans. This report describes a rare case of BC in a young patient with pathogenic germline variants in BRCA2 and TP53 genes and also presents a literature review of the topic.

This comprehensive analysis of somatic mutations in HGSOC provides insight into potential therapeutic targets and molecular pathways for targeted interventions. AP3S1 was identified as being a key player in tumor immunity and prognosis, thus providing new perspectives for personalized treatment strategies. The findings of this study contribute to the understanding of HGSOC pathogenesis and provide a foundation for improved outcomes in patients with this aggressive disease.

with myxoid background stroma, including variably sized pools of basophilic material, or collagenous with frequent collagen plaques, they display spindled cells with scant to relatively abundant gray to eosinophilic cytoplasm and spindled to ovoid or much less commonly round nuclei with inconspicuous nucleoli and evenly distributed chromatin without overt pleomorphism and show strong and diffuse CyclinD1 positivity with BCOR being positive in ~ 50% of cases with CD10 positive and ER/PR +/- and the caveat of focal positivity for SMA and caldesmon in some. • Caution should be exercised when evaluating a myxoid smooth muscle tumor and extensive sampling is crucial including sections of the tumor myometrium interface to evaluate margins and detect any area with cytologic atypia or increased mitotic activity as not infrequently these tumors may have banal cytologic features • To establish a diagnosis of myxoid leiomyoma, the tumor should be <6 cm, well circumscribed, with no cytologic atypia or mitotic activity • In the frozen section setting, a tumor that has grown fast and surgeon suspects leiomyosarcoma, the most common diagnosis will be leiomyoma with hydropic change • When a lymphoplasmacytic inflammatory infiltrate is noted within a spindled cell proliferation that resembles a smooth muscle neoplasm especially with a myxoid component, think of the possibility of an inflammatory myofibroblastic tumor • Caution should be exercised when using smooth muscle markers including transgelin, and endometrial stromal markers including CD10, IFITM1, and BCOR in the differential diagnosis with these tumors • When working up such differential diagnosis apply smooth muscle markers as well as ALK/ROS and perform FISH • In a malignant myxoid spindle cell tumor negative for BCOR and muscle markers showing diffuse cyclinD1 expression perform molecular studies to rule out a BCOR high-grade endometrial stromal sarcoma

A cribriform pattern/intraductal carcinoma might be a marker of potentially lethal PC. The high incidence of TP53 and BRCA2 mutations in de novo mCSPC may also have a therapeutic implication.