Cylindroma of the Breast: A Rare Differential for Breast Cancer on Core Biopsies,Case Report and Review of Literature

Abstract

Breast cancers of either ductal or lobular pathology make up the vast majority of breast malignancies. Other cancers occur rarely in the breast. Benign pathology can at times mimic breast cancers on imaging and initial needle biopsies. We report a rare breast pathology of cylindroma. Cylindromas are usually benign, rare dermatologic lesions most commonly associated with head or neck locations. They more commonly occur as sporadic and solitary masses. Less commonly is an autosomal-dominant multi-centric form of this disease. Malignant cylindromas are very rare. We present a patient with findings of a cylindroma of the breast after excision. This was initially felt to be concerning for breast cancer on imaging and core biopsy. Treatment of cylindromas of the breast is excision. Sentinel lymph node dissection is not indicated, nor are adjuvant therapies when identified in the breast. This lesion needs to be included in the differential diagnosis for breast cancer. If cylindromas can be accurately diagnosed preoperatively, this would negate the need for consideration of axillary nodal surgery and adjuvant therapies.

National American College of Physicians April 2023

“Rare breast pathology with cylindroma of breast on surgical resection.” Dre Steinwehr, Toshi Ghosh, and Michael Bouton. National ACP Poster Contest. San Diego, CA.

Southeastern Surgical Congress February 2023

“Rare breast pathology with cylindroma of breast on surgical resection.” Dre Steinwehr, Toshi Ghosh, and Michael Bouton. National ACP Poster Contest. San Diego, CA.

Case Report

The patient is a 79-year-old woman who fell while walking up a flight of stairs. This resulted in an injury to the chest. Evaluation, including a chest computed tomography scan, revealed a mass in the left breast (Figure 1). Subsequent breast-specific imaging resulted in multiple left breast core biopsies (Figure 2). Two areas revealed fibroadenoid changes and were concordant. A 1.5-cm, upper inner left breast mass was interpreted to be an invasive ductal carcinoma with basaloid features on core biopsy. This was estrogen receptor low positive (1%), progesterone receptor negative, and human epidermal growth factor receptor 2 negative. The pathologic differential on the lesion on core biopsy included possible adenoid cystic carcinoma. She has a family history of breast cancer in her daughter. Co-morbidities included hypertension and morbid obesity. Her performance status was good.

Figure 1.

Computed tomography chest without contrast showing 15 mm nodular asymmetric soft tissue density in the left breast upper inner quadrant.

Figure 2.

Targeted ultrasound of the mass in the inner left breast was performed and demonstrates a 14 × 10 × 9 mm irregular hypoechoic mass with vascular flow at 11:00 axis 2 cm from the nipple.

With multidisciplinary planning, a left breast needle localization lumpectomy and axillary sentinel lymph node dissection were performed due to the initial diagnosis of cancer 58 days following initial imaging. The surgical pathology had 2 negative sentinel nodes. The final pathology on the breast mass revealed a 2.4-cm cylindroma, margins 5 mm or greater, as well as atypical ductal hyperplasia (size larger than initial imaging with time to surgery).

She recovered from the surgery well.

Pathology

On gross examination, a 24-mm firm, solid, overall circumscribed mass was identified. Histological sections demonstrated a biphasic neoplasm composed of densely packed, cytologically bland basaloid tumor islands surrounded by compact, eosinophilic basement membrane–like material, arranged in a “jigsaw” pattern (Figure 3). Although relatively circumscribed, some peripheral infiltration into adjacent tissue was present (Figure 3). Immunohistochemically, the neoplastic cells expressed GATA3 and p63, and showed patchy expression of smooth muscle myosin.

Figure 3.

Whole image of high magnification of biphasic nests displaying a dual population of smaller, darker blue cells with scant cytoplasm toward the periphery of the nests and larger, paler cells with slightly more abundant eosinophilic cytoplasm within the center.

Discussion

Cylindromas are a rare, usually dermatologic, neoplasm. These have been well documented in dermatologic literature. Typical occurrence is on the scalp, head, and neck regions. ¹ Most cylindromas present as a singular growth, though there are cases where multiple cylindromas of the scalp are present. This is termed a turban tumor. Some cases with multiple cylindromas can be associated with other conditions. These are described as Brooke-Spiegler syndrome or familial cylindromatosis.^2,3 Cylindromas have been described in other locations than the head and neck regions. They have been found in the lungs, salivary glands, kidneys, and breast. ⁴

Breast cylindromas were first described in 2001. ⁵ These were initially difficult to identify due to their close resemblance to eccrine cells. Common descriptions used for this pathology include the “jigsaw” pattern of nested cells. With the rarity of cylindromas outside of the dermatologic literature, there has been continued investigation into their differentiation. The extra-dermal locations all share ductal and myoepithelial structures that pose the possibility that these neoplasms may be variants of ductal differentiation. ⁶ An extensive review of the literature generated less than 20 case reports of breast cylindromas present from the original case report in 2001.^7,8

The literature suggests a possible close association with adenoid cystic carcinoma. Adenoid cystic carcinomas account for less than 1% of invasive breast cancers. ⁷ Cylindromas may be mistaken for adenoid cystic carcinoma. Initial pathological investigation of these two lesions can appear the same. New target points are being identified to differentiate these. Currently, some use MYB overexpression and CYLD gene mutations (positive in cylindroma) to differentiate these from other pathologies. ⁷

Cylindromas are described as benign.^4,9 Similar to our case, no metastases have been identified in any of the previous cases.^7,8 Although benign in nature, the possibility of synchronous carcinoma does also need to be considered. As was the case here the initial pathology on core biopsy resulted in treating this as a breast cancer including the lumpectomy and axillary sentinel lymph node dissection. Rare examples of malignant transformation have been reported for cylindromas. With the finding of breast cylindroma, the whole surgical specimen should be assessed for occurrence of synchronous carcinoma. In the literature, there have been 3 documented cases of synchronous carcinoma with a cylindroma. These include invasive ductal carcinoma^6,10 and invasive lobular carcinoma. ⁵

Recommended treatment of cylindromas involves resection to negative margins to minimize the chance of local recurrence. CO2 laser removal for smaller cylindromas has been described. ¹¹ If cylindromas can be accurately diagnosed preoperatively, this would negate the need for consideration of axillary nodal surgery and adjuvant therapies.

For review, cylindromas are a rare dermal benign neoplasm. These can be confused with invasive breast cancer clinically and on initial core biopsy pathology, especially when the tumor is located deeper in the breast tissue and is sampled through the center of the lesion without evaluation of peripheral borders on core biopsy. Current treatment recommendations are for complete surgical resection of the tumor. There are no recommendations for any adjuvant therapies. It is important to differentiate these cases of cylindroma from other breast tumors with basaloid morphology. On core biopsy, the diagnosis of cylindroma may be particularly challenging, as a small sampling through the center of the lesion without assessment of the overall architecture and tumor periphery may appear to represent a primary basaloid breast neoplasm, as in this case, including invasive ductal carcinoma with basaloid features and adenoid cystic carcinoma. All these pathologies are typically triple-negative. Furthermore, adnexal-derived neoplasms such as cylindromas may be immunoreactive for immunohistochemical markers that are expressed in breast ductal carcinomas, including GATA3 (such as in the current case) and mammaglobin. Given that the initial biopsy appeared to depict features of an invasive ductal carcinoma with basaloid features, our patient had an axillary sentinel lymph node dissection. However, on complete histopathological examination of the subsequent excision specimen, features such as relatively circumscribed growth pattern and the characteristic “jigsaw” configuration with basement membrane–like material became apparent, and a diagnosis of cylindroma was able to be rendered.