Kurita Arisa, Yoshida Masayuki, Murata Takeshi, Yoshida Akihiko, Uchiyama Nachiko, Takayama Shin
Department of Breast Surgery, National Cancer Center Hospital, Tokyo 104-0045, Japan; Department of Surgery, School of Medicine, Keio University, Tokyo 160-8582, Japan.
Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo 104-0045, Japan.
Int J Surg Case Rep. 2022 Aug;97:107435. doi: 10.1016/j.ijscr.2022.107435. Epub 2022 Jul 21.
Primary ALK-positive histiocytosis of the breast is rare. Here, we report a case of ALK-positive histiocytosis with multiple unilateral breast lesions.
Our patient was a 38-year-old female with primary ALK-positive histiocytosis of the breast with multiple lesions. There were no lesions in other organs, and the patient was considered surgically resectable and underwent a left total mastectomy and sentinel lymph node biopsy. Histopathologically, there were at least three lesions in the left breast in upper inner quadrant (UIQ), upper quadrant (UQ), and upper outer quadrant (UOQ). All lesions showed spindle-shaped tumor cells that were positive for CD163 and ALK and negative for AE1/AE3. Fluorescence in situ hybridization (FISH) showed ALK and KIF5B rearrangements, suggesting the presence of the KIF5B-ALK fusion gene. In conclusion, this case was confirmed to be ALK-positive histiocytosis with multiple lesions in the unilateral breast. The patient underwent surgery and was discharged without complications.
Reports of ALK-positive histiocytosis are very rare, and reports of primary cases in the breast are even rarer. The basic treatment for ALK-positive histiocytosis is surgical resection; however, ALK inhibitors may be effective in unresectable or disseminated cases. Accurate diagnosis at the time of initial treatment is necessary to expand the treatment options.
This is the first case of ALK-positive histiocytosis with multiple lesions in the unilateral breast.
原发性ALK阳性乳腺组织细胞增多症罕见。在此，我们报告一例ALK阳性组织细胞增多症伴单侧乳腺多发病变的病例。
我们的患者是一名38岁女性，患有原发性ALK阳性乳腺组织细胞增多症且有多发病变。其他器官无病变，患者被认为可手术切除，遂行左侧全乳切除术及前哨淋巴结活检。组织病理学检查显示，左侧乳腺内上象限（UIQ）、上象限（UQ）和外上象限（UOQ）至少有三个病变。所有病变均显示梭形肿瘤细胞，CD163和ALK呈阳性，AE1/AE3呈阴性。荧光原位杂交（FISH）显示ALK和KIF5B重排，提示存在KIF5B-ALK融合基因。总之，该病例确诊为单侧乳腺多发病变的ALK阳性组织细胞增多症。患者接受手术治疗，术后无并发症出院。
ALK阳性组织细胞增多症的报道非常罕见，乳腺原发性病例的报道更是稀少。ALK阳性组织细胞增多症的基本治疗方法是手术切除；然而，ALK抑制剂可能对不可切除或播散性病例有效。初始治疗时进行准确诊断对于扩大治疗选择至关重要。
这是首例单侧乳腺多发病变的ALK阳性组织细胞增多症病例。
