Boltežar Lučka, Gašljević Gorana, Novaković Srdjan, Stegel Vida, Škof Erik
1Division of Medical Oncology, Institute of Oncology Ljubljana, Zaloska cesta 2, 1000 Ljubljana, Slovenia.
2Department of Pathology, Institute of Oncology Ljubljana, Zaloska cesta 2, 1000 Ljubljana, Slovenia.
Hered Cancer Clin Pract. 2020 Mar 19;18:7. doi: 10.1186/s13053-020-00139-w. eCollection 2020.
In a patient with a germline pathogenic variant with breast cancer, an adnexal mass can represent either a metachronous primary tumor or a metastasis of the breast cancer. A clear distinction between those two possibilities is crucial since treatments differ substantially and so does survival of the patient.
We present a case of a 47-year-old patient with bilateral breast carcinoma with a germline pathogenic variant. The first manifestation of the disease was a lump in her left breast in 1998, histological report was invasive ductal carcinoma, triple-negative. She was treated with surgery, chemotherapy and radiotherapy. In 2011 a new occult carcinoma was found in her right axilla, however the specimen was estrogen receptor (ER) and progesterone receptor (PgR) positive. She was treated as a new primary occult carcinoma of the right breast with surgery, radiotherapy and adjuvant hormonal treatment. In 2016 a mass in the left adnexa was found with imaging techniques. She underwent surgery as if it was primary ovarian cancer, yet histology revealed it was a metastasis of a triple-negative breast carcinoma in the fimbrial part of the left Fallopian tube. She received adjuvant chemotherapy after surgery and is now in complete remission.
We present an interesting and quite rare case of two primary breast carcinomas in a patient with a known pathogenic variant with metastasis in the fimbrial part of the left Fallopian tube. We conclude that there were two primary breast tumours and the one from 2011 spread into the fimbrial part of the left Fallopian tube in 2016. Despite the fact that molecular analyses could not confirm the joint tumour origin, we believe that there was a receptor status conversion over time explaining different receptor status. The possibility of a triple-negative metastasis from the tumour treated in 1998 is less probable. With both of aforementioned possibilities being prognostically unfavourable, the patients' outcome is so far excellent and she was in complete remission at the time of writing this article.
在患有种系致病变异且患乳腺癌的患者中,附件肿物可能代表异时性原发性肿瘤或乳腺癌转移灶。明确区分这两种可能性至关重要,因为治疗方法差异很大,患者的生存情况也不同。
我们报告一例47岁患有双侧乳腺癌且有种系致病变异的患者。该疾病的首发表现是1998年左侧乳房出现肿块,组织学报告为浸润性导管癌,三阴性。她接受了手术、化疗和放疗。2011年在其右腋窝发现新的隐匿性癌,然而标本雌激素受体(ER)和孕激素受体(PgR)呈阳性。她被当作右乳新的原发性隐匿性癌接受了手术、放疗和辅助激素治疗。2016年通过影像学检查发现左侧附件有肿物。她接受了手术,术中按原发性卵巢癌处理,但组织学检查显示是三阴性乳腺癌转移至左侧输卵管伞端。术后她接受了辅助化疗,目前处于完全缓解状态。
我们报告了一例有趣且相当罕见的病例,一名已知有种系致病变异的患者患有两个原发性乳腺癌,并伴有左侧输卵管伞端转移。我们得出结论,存在两个原发性乳腺肿瘤,2011年的那个肿瘤于2016年转移至左侧输卵管伞端。尽管分子分析无法证实肿瘤的共同起源,但我们认为随着时间推移存在受体状态转换,这解释了不同的受体状态。1998年治疗的肿瘤发生三阴性转移的可能性较小。鉴于上述两种可能性预后均不佳,但该患者目前预后良好,在撰写本文时处于完全缓解状态。