Giant solitary neurofibroma in the breast: A case report and review of the literature

Giant solitary neurofibroma in the breast: A case report and review of the literature

Cancer Treatment Communications (2015) 4, 19–22 Giant solitary neurofibroma in the breast: A case report and review of the literature Chao Shaoa,c,n, ...

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Cancer Treatment Communications (2015) 4, 19–22

Giant solitary neurofibroma in the breast: A case report and review of the literature Chao Shaoa,c,n, Jingjing Zhangb, Feihai Lingc,n, Jianhua Fua, Zhihua Huangc a

Department of Thoracic Surgery, Cancer Center, Sun Yat-sen University, 510060 Guangzhou, China Department of Radiology, Zhongshan Hospital of Sun Yat-sen University, No. 2 East Sunwen Road 528403 Zhongshan, China c Department of Mammary Surgery, Zhongshan Hospital of Sun Yat-sen University, No. 2 East Sunwen Road, 528403 Zhongshan, China b

Received 1 August 2014; received in revised form 16 March 2015; accepted 21 March 2015




Solitary neurofibroma; Neurofibromatosis type 1 (NF1); Breast; Breast cancer

Solitary neurofibromas are a benign tumor composed of a mixture of Schwann, perineurial-like, and fibroblastic cells. Neurofibroma of the breast is rare. In this article, we reported a case of a giant solitary neurofibroma of the breast in a 48-year-old Chinese female. To our knowledge, this is the first case of breast giant solitary neurofibroma originating from the upper margin of the breast near the neck. & 2015 Elsevier Ltd. All rights reserved.


Neurofibromas are derived from the nerve sheath and represent 5% of all benign soft tissue neoplasms. Nearly 10% of cases are found in associated with neurofibromatosis type I (NF-1) [1,2]. Neurofibromas are usually solitary tumors of the head and neck region [3]. Neurofibroma of the breast independent of neurofibromatosis is extremely rare with only a few previous cases having been reported. Presently, we describe a case of a 48-year-old woman who has a giant


Corresponding authors. E-mail addresses: [email protected] (C. Shao), [email protected] (F. Ling). 2213-0896/& 2015 Elsevier Ltd. All rights reserved.

solitary neurofibroma in the breast originating from neck region, measuring approximately 10 cm  7 cm  4 cm.


Case report

A 48-year-old woman was admitted to our hospital with complaints of giant soft lump in the right breast. Two years earlier, she first noticed a soft, mobile mass in the upper quadrants of the right breast. She did not seek medical treatment during that time, and the mass in her right breast had gradually increased in size, but the mass enlarged rapidly over the past two weeks. She was otherwise well. There was no history of surgery or radiation therapy of her breasts. There was no family history of breast cancer. Physical examination revealed a homogeneous, soft, tenderness, well-circumscribed


C. Shao et al.

Figure 1 Right medio-lateral oblique mammogram is showing the mass lesion denser than the adjacent parenchyma in the central area of the right breast.

Figure 3 A gross image of the surgical specimen is shown the cut surface of the mass was grey–yellowish.

Figure 2 MRI showing the giant mass in the central area of the right breast, sagittally.

mass, measuring approximately 8 cm  7 cm  5 cm. There was no fixation to the underlying muscle. There was no nipple discharge, redness or swelling of skin. Mammograms showed a clear-circumscribed, lobular and equal-density mass, measuring 59.3 mm  107.1 mm in its diameter. It was situated centrally within the breast tissue approaching to the nipple. The BI-RADS Grade of the right mass was 4b in mammogram (Figure 1). Via ultrasonography, a giant, heterogeneously (low or high) echogenic lump with smooth margin was confirmed. Color Doppler flow imaging (CDFI) showed a mild vascularity in the lump. Magnetic resonance imaging (MRI) was then performed to evaluate the mass. The mass was approximately 8.4 cm  6.0 cm  5.1 cm in the upper quadrants of the right breast with smooth margin and superficial lobes. On T2weighted image, the mass mostly demonstrate high signal intensity. On contrast-enhanced T2-weighted image, the mass shows heterogeneous nodular enhancement. A phyllode tumor or giant fibroadenoma or malignancy lump was considered (Figure 2). Surgery was performed under general and local anesthesia with a curved incision about 4.5 cm in length over the mass. The mass was situated under the subcutaneous fat tissue and the adjacent breast tissue was compressed to form a fake envelope about 2–3 mm in thickness, with an unexpected pedicle attaching to the subcutis of the upper margin of the right breast near the neck region found during blunt dissection. The mass measuring approximately 10 cm  7 cm  4 cm with a thin fibrous envelope was completely enucleated through the incision. Macroscopically, the resected specimen showed a grey–yellowish, elastic, toughness, and well-demarcated lump (Figure 3). Microscopically it contained slender cells with irregular nuclei and wavy configuration. No mitoses or necrosis were seen. Many

Figure 4 Postoperative Hematoxylin and Eosin (H&E) staining demonstrates spindle cells with characteristic elongated, wavy nuclei.

cells were expressing S-100 protein, with no NF-L+ H expression (Figure 4). A final histologic diagnosis of neurofibroma was made. The patient is doing well with no evidence of recurrence 13 months after surgery.



Neurofibromas are benign peripheral nerve sheath tumors (BPNSTs) derived from an admixture of Schwann, perineurial-like, and fibroblastic cells [4]. They mostly happen in the patients of 20–30 years old with no sex predilection. They are commonly found either as solitary lesions or part of neurofibromatosis type 1 (NF-1). The NF-1 is an inherited autosomal dominant disease with the mutation of NF-1 gene, and can occur in the dermis or subcutis evenly

Case report on giant solitary neurofibroma in the breast distributed over the body surface [5,6]. The solitary neurofibromas and NF-1 are regarded as two different disease processes, although present the same pathologic features, histologically. Most neurofibromas occur as solitary lesions with no any other evidence of NF-1, such as Café au lait patches in the skin. Solitary neurofibromas of the breast are rare and only a few cases have been reported in the English language literature [4,7–11]. Neurofibromas in breast usually involve the skin of the breast and nipple-areolar complex. Here, we are interested to report a giant solitary neurofibroma arising in the subcutis of neck area which mainly situated centrally within the breast. Solitary neurofibromas commonly occur in the head and neck area associated with the 5th and 7th cranial nerves [3]. In present case, the pedicle of the mass was attached to the subcutis of the upper margin of the right breast. When pulling the pedicle downwards in the surgery, the attached skin can form a fake “dimple sign” in the neck region. The neurofibroma was well circumscribed and encapsulated, polypoid in shape. Microscopically, neurofibromas contain interlacing bundles of cells with elongated, wavy nuclei and slender cytoplasmic processes. Most are immunoreactive for S-100 protein and in keeping with their benign behavior, lacking significant mitotic activity and necrosis [12]. With no evidence of NF-1 and malignancy, the patient received no adjuvant treatment (chemotherapy, radiotherapy, hormone therapy or other) in our case. Some kinds of neurofibromas may progress to malignant peripheral nerve sheath tumors (MPNSTs) [13], and an earlystage MPNST was reported to arise from a solitary neurofibroma in the literature [14]. Meamwhile, solitary neurofibromas may be the cardinal manifestation of NF-1. With the mutation of NF-1 gene, individuals with NF1 may have 15% additional risk of malignancy, and which is 5-fold for breast cancer [15–17]. Many kinds of breast cancer in patients with NF1 had already been reported in the literature [18,19]. The possibility of recurrence after long-term intervals should be borne in mind, therefore, an extended period of long-term follow-up is mandatory.



Here, we have described a special case of neurofibroma in the breast, in which all the major imaging techniques (ultrasonography, mammogram and MRI) have not made an accurate diagnosis before the surgery. Above all, human being is heterogeneous and the breast is a fantastic organ. It is important to keep in mind for our clinicians that a careful physical examination, multiple screening imaging modalities and even surgery biopsy should be used in the treatment of patients with unusual breast diseases.

Conflict of interest The author(s) declare that we have no competing interests.

Authors' contributions Shao Chao and Zhang Jingjing drafted the manuscript, Ling Feihai carried out data and picture acquisition, Fu Jianhua

21 designed the study, Huang Zhihua performed the histological assessments. All authors participated in the editing and have read and approved the final manuscript. Drs Shao Chao and Zhang Jingjing contributed equally to this work and should be regarded as first co-authors.

Acknowledgments Supported by ‘Medicine Research Fund of Zhong Shan (No. 2013J040)’and ‘Science and Technology Plan Project of Zhongshan (No. 20132A083)’. Written consent has been obtained from the patient for publication of this case report.

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