Rumpf Anna-Lena, Mathiak Micaela, Schäfer Fritz K, Caliebe Almuth, Farrokh Andre, Elessawy Mohamed, Bauerschlag Dirk O, Maass Nicolai, van Mackelenbergh Marion, Heilmann Thorsten
Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Institute of Pathology, Christian-Albrechts University of Kiel, Kiel, Germany.
Breast Care (Basel). 2021 Feb;16(1):85-88. doi: 10.1159/000507604. Epub 2020 Jun 24.
Hamartomas of the breast are rare benign tumors. Pre- and also postoperative differentiation from other benign or even malignant tumors is challenging.
A 36-year-old female presented with a giant tumor of the left breast. The patient had suffered from an early breast cancer of the contralateral right breast the year before, which was treated with breast-conserving therapy, radiation, and endocrine therapy ever since. The hamartoma was classified as BI-RADS 2 in mammography and BI-RADS 4 in ultrasound. On clinical examination, a tumor of nearly 15 cm in size led to an abstruse deformity of the breast and the nipple-areola complex. We found an indolent, grand bulging tumor with an elastic texture directly beneath the skin. A biopsy that had been performed before was compatible with the suspected hamartoma. Because of the remaining diagnostic uncertainties after contralateral breast cancer and the progressive malformation of the left breast, a tumor extirpation utilizing a reduction mammaplasty was performed without complications. Subsequent genetic analyses excluded a loss of PTEN in this patient.
We presented the rare case of a 36-year-old woman with a history of breast cancer and a 700-g breast hamartoma. The preoperative and even the postoperative specification of a hamartoma remains challenging, and associations with genetic alterations should be considered.
乳腺错构瘤是一种罕见的良性肿瘤。术前及术后将其与其他良性甚至恶性肿瘤进行鉴别具有挑战性。
一名36岁女性因左乳巨大肿瘤就诊。该患者前一年曾患对侧右乳早期乳腺癌,此后接受了保乳治疗、放疗及内分泌治疗。该错构瘤在乳腺钼靶检查中分类为BI-RADS 2级,在超声检查中为BI-RADS 4级。临床检查发现,一个大小近15厘米的肿瘤导致乳房及乳头乳晕复合体出现严重畸形。我们在皮下发现一个质地有弹性、生长缓慢且明显隆起的肿瘤。之前进行的活检结果与疑似错构瘤相符。由于对侧乳腺癌后仍存在诊断不确定性以及左乳畸形逐渐加重,遂采用缩乳术切除肿瘤,手术无并发症。随后的基因分析排除了该患者存在PTEN缺失的情况。
我们报告了一例罕见病例,一名36岁女性有乳腺癌病史,患有一个700克的乳腺错构瘤。错构瘤的术前甚至术后诊断仍具有挑战性,应考虑其与基因改变的关联。