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Radiol Case Rep
Radiol Case Rep
Radiology Case Reports
1930-0433
Elsevier

S1930-0433(24)00760-X
10.1016/j.radcr.2024.07.175
Case Report
Breast cylindroma: A rare and unexpected diagnosis
McGhee Kennedye a
Spethman Caroline b
Muhammad Hamad a
Woodard Stefanie DO swoodard@uabmc.edu
c⁎
Guo Hua MD d
Yalniz Ceren MD c
a The University of Alabama, Birmingham Marnix E. Heersink School of Medicine, 1670 University Blvd, Birmingham, AL 35233, USA
b College of Medicine, University of Nebraska Medical Center, 42nd and Emile Omaha, Nebraska 68198, USA
c Department of Radiology, JTN 444, 619 19th St S, Birmingham, AL, 35294, USA
d Department of Pathology, University of Alabama at Birmingham, P210 West Pavilion 619 South 19th Street, Birmingham, AL 35233-7331, USA
⁎ Corresponding author. swoodard@uabmc.edu
22 8 2024
11 2024
22 8 2024
19 11 51445148
21 7 2024
27 7 2024
29 7 2024
© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
2024

https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Cylindroma is a benign adnexal tumor histologically characterized by clusters of small basaloid cells arranged in a pattern resembling a jigsaw puzzle. Breast cylindromas are extremely rare with approximately 20 reported cases throughout literature. We present a case of a 71-year-old female with a slow growing cystic breast mass, originally identified 8 years prior to biopsy. Mammography and ultrasound demonstrated features of a simple cyst with circumscribed margins and anechoic internal echogenicity, respectively. Biopsy was performed due to increase in size, revealing the pathologic entity of cylindroma. The patient ultimately underwent surgical excision, which confirmed the diagnosis. We discuss the radiology, pathology and clinical course of breast cylindroma.

Keywords

Cylindroma
Breast cyst
Adenoid cystic carcinoma
Brook-Spiegler syndrome
Abbreviations

OCP oral contraceptive pills

IUD intrauterine device

BSS Brooke-Spiegler syndrome

LOH loss of heterozygosity

ACC adenoid cystic carcinoma

MRI magnetic resonance imaging
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pmcIntroduction

Cylindromas, are rare, benign tumors originating either from apocrine sweat glands or hair follicles [1]. However, their exact etiology is unknown. Cylindromas are more common in middle-aged or elderly females, often appearing in the head, neck, or scalp [2]. They rarely undergo malignant transformation. Cylindromas may occur as a single tumor, or as multiple tumors associated with the CYLD gene mutation or Brooke-Spiegler syndrome (BSS) [3,4]. Cylindroma of the breast is a very rare lesion. Since its first description in 2001, 20 cases of cylindromas of the breast have been reported in the literature [2].

Case presentation

A 71-year-old female presented to clinic with a pea-sized palpable breast mass. The patient notes that it has been present for many years. The patient had no prior history of breast cancer. She had no history of benign or atypical breast biopsies. Her past medical history was significant for 2 treated cancers, including primary squamous cell carcinoma of the nasal root and squamous cell carcinoma of the anus. Physical examination was otherwise unremarkable with no additional breast mass, tenderness, asymmetry, or nipple discharge.

An oval mass was identified in the lower inner quadrant posterior depth in the left breast on mammogram (Fig. 1), corresponding to a sonographic finding resembling a simple cyst (anechoic, circumscribed, posterior acoustic enhancement, no internal vascularity) adjacent to skin on ultrasound measuring up to 7 mm at 8 o'clock, 12 cm from the nipple (Fig. 2). Review of an MRI performed 8-years prior to presentation demonstrated a circumscribed oval homogeneously enhancing T2-hyperintense mass (Fig. 3). The patient underwent core needle biopsy using ultrasound guidance (Fig. 4). Pathology of core biopsy showed islands of epithelial cells composed of peripheral basaloid cells and central larger cells with oval vesicular nuclei, which surrounded by thickened membrane material and focally containing hyalin globules, consistent with a cylindroma (Fig. 5).Fig. 1 Left full-field 2-D craniocaudal (CC) mammographic views. (A) Current mammogram shows an asymmetry (arrow) in the medial breast posterior depth. (B) Prior mammogram performed 8 years later shows the finding as a mass (arrow) in the lower inner quadrant (MLO not shown), increased in size and density.

Fig 1

Fig. 2 Targeted breast ultrasound performed with a 15 mHz linear transducer. Images of the left breast show a hypoechoic oval mass measuring approximately 5 × 3 × 7 mm seen at 8 o'clock 12 cm from nipple in (A) power-doppler sagittal view with no internal vascularity and (B) transverse grayscale views.

Fig 2

Fig. 3 Biopsy associated images. (A) Prebiopsy ultrasound performed at 8 o'clock 12 cm from nipple, sagittal view with mass (arrow). (B) Ultrasound guided biopsy of the mass (long arrow) of the left breast with biopsy needle (short arrow) traversing the target. (C) Postbiopsy left craniocaudal mammogram with biopsy clip present at the site (arrow).

Fig 3

Fig. 4 Multiple axial MRI sequences performed on a 1.5 T magnet with 8-ch breast coil at the level of the cardiac apex. (A) axial T1 precontrast nonfat suppressed, (B) axial T1 precontrast (C) axial T1 postcontrast fat suppressed, and (D) axial T2 fat suppressed and (E) sagittal T1 subtraction first postcontrast sequences. Arrows indicate the T1 hypointense, T2 hyperintense homogeneously enhancing oval mass in the lower inner quadrant posterior depth.

Fig 4

Fig. 5 Histology. (A) Low power shows a symmetrical, well-circumscribed lesion. (B) Intermediate power shows islands of epithelial cells composed of peripheral basaloid cells and central larger cells with oval vesicular nuclei. (C) High magnification of the cell nests surrounded by thickened membrane material and focally containing hyalin globules.

Fig 5

With the past history of 2 separate site of squamous cell carcinoma, the patient desired excision. Excision with clear margins was performed due to patient preference. Further immunohistochemical staining was performed on excision with ER negative, CK5/6, CK7, and GATA3 focally positive in the ductal cells, smooth muscle myosin focally positive in the palisading cells, and p63 positive in majority of the lesional cells, supporting cylindroma.

Discussion

Malignant cylindroma was initially identified by Ancell in 1842, when multiple members of a family exhibited numerous scalp tumors [5]. These lesions appear as smooth-surfaced nodules ranging in color from pink to purple and can be solitary or multiple, predominantly affecting middle-aged or older women [2]. The malignant transformation of these tumors is very rare, particularly in solitary forms compared to multiple variants. Multiple cylindromas are often linked to mutations in the CYLD gene or associated with BSS. The CYLD gene, found on chromosome 16, acts as a tumor suppressor and is involved in post-translational protein modification [2]. This gene plays a crucial role in various cellular processes, including DNA repair, endocytosis, proteasomal degradation, and the regulation of several cell signaling pathways [2]. Cylindromas is the most frequent manifestation of documented CYLD gene mutations [2]. The presence of a somatic CYLD mutation along with the loss of heterozygosity (LOH) of the wild-type allele at the CYLD locus is associated with sporadic mammary cylindroma. In contrast, a germline mutation in this gene usually results in familial cylindromatosis, multiple familial trichoepitheliomas, and BSS [2].

Breast cylindroma was initially documented in 2001 by Gokaslan et al. [6]. Mammary glands, or breasts, are essentially modified sweat glands influenced by hormonal stimulation, allowing them to develop various types of neoplasms similar to sweat gland tissue, including cylindroma of the breast [7]. Differentiating breast cylindroma from the solid-type adenoid cystic carcinoma of the breast is crucial but can be difficult due to their similar imaging features [8]. Nevertheless, there are distinct characteristics that can aid in distinguishing between these 2 conditions [9,10].

On mammography, breast cylindroma typically appears as a round or oval mass with circumscribed margins and has variable density. On ultrasound, cylindroma has been reported as a solid, hypoechoic mass with circumscribed margins and may have a variable internal echotexture but typically lacks cystic components or calcifications. On MRI, breast cylindroma may show low to intermediate signal intensity on T1-weighted images and variable signal intensity on T2-weighted images. Enhancement patterns can vary but typically demonstrate persistent enhancement. Cylindromas often have a ductal distribution pattern due to their origin from the apocrine glands.

In contrast, on mammography, ACC may also present as a circumscribed mass, often with irregular margins and associated microcalcifications. On ultrasound, ACC can appear as a hypoechoic or isoechoic mass with circumscribed or irregular margins and may contain cystic components, demonstrating posterior acoustic enhancement. ACC may demonstrate heterogeneous enhancement on dynamic contrast-enhanced MRI and can exhibit high signal intensity on T2-weighted images due to its cystic components. ACC may show more random or infiltrative growth patterns.

While both breast cylindroma and ACC can appear as circumscribed masses on mammography, cylindroma typically lacks microcalcifications and has a more consistent appearance with circumscribed margins, whereas ACC often has irregular margins and may present with microcalcifications. On ultrasound, cylindroma is generally solid and hypoechoic with circumscribed margins, while ACC can be hypoechoic or isoechoic with circumscribed or irregular margins and may contain cystic components. On MRI, cylindroma shows low to intermediate signal intensity on T1-weighted images and variable signal intensity on T2-weighted images with persistent enhancement, whereas ACC may show heterogenous enhancement and high signal intensity on T2-weighted images due to its cystic components. It is important to note that imaging characteristics alone do not definitively distinguish between these 2 entities, and histopathological analysis is often necessary for a conclusive diagnosis.

Pathologically, cylindroma is a benign adnexal neoplasm with a mosaic microscopic pattern. It usually consists of multiple aggregates of basaloid cells in a jigsaw-puzzle arrangement and surrounded by a prominent basement membrane. Ductal structure can also be seen. Cylindromas do not exhibit cytologic atypia or mitoses and do not infiltrate the adjacent breast tissue. Differential diagnoses of cylindromas include ACC and rarely basal cell carcinoma.

Conclusion

Radiologically, cylindromas of the breast can resemble other benign and malignant breast masses. They may be challenging to differentiate morphologically from similar tumors, such as solid-type ACC. Diagnostic mammography and ultrasound are the recommended initial imaging modalities. Biopsy is needed for diagnosis. Thus, radiologists should be familiar with imaging characteristics of rare mimickers of common breast pathologies, including cylindromas, as they may need to refer patients to a breast surgeon for definitive diagnosis and to rule out concurrent malignancy.

Patient consent

Written informed consent was obtained from this patient for publication. The patient's identity is concealed with information de-identified for maintaining privacy. A copy of the written consent is available for review if needed.

Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Dr. Woodard is the PI of an investigator-initiated, industry-sponsored study with BRACCO. Funding to be paid to the University of Alabama at Birmingham. April 1, 2021–December 31, 2022. Dr. Woodard is the PI of an investigator-initiated, internally-funded study through the Department of Radiology at UAB. Funding to be paid to the University of Alabama at Birmingham. July 1, 2023–July 1, 2024. All other authors declare no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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