Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.
Department of Dermatology, Christian Hospital Unna, Unna, Germany.
J Cancer Res Clin Oncol. 2023 Apr;149(4):1465-1471. doi: 10.1007/s00432-022-04000-6. Epub 2022 May 3.
Primary breast sarcomas are extraordinary rare, in particular undifferentiated pleomorphic sarcoma (UPS). UPS with neoplastic fever (UPS-NF) of the breast has not been reported yet. Here, we present an extended UPS-NF of the breast including its comprehensive molecular workup.
A 58-year-old female presented with general malaise, fever spikes, weight loss, and a massively swollen left breast. C-reactive protein and blood leucocytes were significantly increased. However, repeated blood cultures and smears were all sterile. Histopathology of the abscess-forming tumor revealed an undifferentiated malignancy with numerous of tumor giant cells as well as spindle-shaped cells with nuclear pleomorphism and hyperchromasia. Immunohistochemistry demonstrated partial, patchy desmin staining and weak heterogonous neuron-specific enolase immunoreactivity of tumor cells, but a focal staining for Melan-A.
Neither common melanoma driver mutations nor an ultraviolet mutational signature was detected by whole genome sequencing. Using FISH and RT-PCR we also excluded translocations characteristic for clear cell sarcoma. Thus, the diagnosis of inflammatory UPS-NF of the breast was considered highly probable. Despite a complete mastectomy, the tumor recurred after only three months. This recurrence was treated with a combination of ipilimumab and nivolumab based on the primary tumor's TPS score for PD-L1 of 30%. After an initial response, however, the tumor was progressive again.
We describe here the first case of UPS-NF of the breast, which shows great clinical and histopathologic resemblances to previously reported UPS-NF of other anatomic localizations.
原发性乳腺肉瘤非常罕见，尤其是未分化多形性肉瘤（UPS）。乳腺未分化多形性肉瘤伴肿瘤性发热（UPS-NF）尚未见报道。在此，我们报告了一例乳腺广泛 UPS-NF，包括其全面的分子研究结果。
一名 58 岁女性因全身不适、高热、体重减轻和左乳房巨大肿胀而就诊。C 反应蛋白和白细胞明显升高。然而，反复的血液培养和涂片均无菌。形成脓肿的肿瘤的组织病理学显示为一种未分化的恶性肿瘤，有大量的肿瘤巨细胞以及核多形性和嗜碱性的梭形细胞。免疫组织化学显示肿瘤细胞部分、斑片状的结蛋白染色和弱异质性神经元特异性烯醇化酶免疫反应性，但有局灶性黑色素-A 染色。
全基因组测序未检测到常见黑色素瘤驱动突变或紫外线突变特征。使用 FISH 和 RT-PCR，我们也排除了特征性的 clear cell sarcoma 易位。因此，高度怀疑为炎性乳腺 UPS-NF。尽管进行了全乳房切除术，但肿瘤仅在三个月后就复发了。该复发采用伊匹单抗和纳武单抗联合治疗，基于原发性肿瘤 PD-L1 的 TPS 评分 30%。然而，在初始反应后，肿瘤再次进展。
我们在此描述了首例乳腺 UPS-NF，其临床表现和组织病理学与先前报道的其他解剖部位的 UPS-NF 非常相似。
