Fine Needle Aspiration Cytology of Breast Cylindroma in a Woman with Familial Cylindromatosis

Wang, Nancy; Leeming, Rosemary; Abdul‐Karim, Fadi W.

doi:10.1159/000326457

Cited by 14 publications

(15 citation statements)

References 14 publications

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“…Multiple cylindromas are seen in hereditary multiple cylindromatosis (Brooke-Spiegler syndrome), an autosomal dominant condition which is characterised by a germline mutation within the tumour suppressor gene CYLD1 [13,14]. Two out of the 14 cases of mammary cylindroma we reviewed occurred in patients known to suffer from the Brooke-Spiegler syndrome (table 1) [9,15]. The 3 patients in the present study had no family or past medical history of skin tumours.…”

Section: Discussionmentioning

confidence: 98%

Breast Neoplasms with Dermal Analogue Differentiation (Mammary Cylindroma): Report of 3 Cases and a Proposal for a New Terminology

et al. 2015

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Salivary gland-like and dermal analogue tumours of the breast are rare lesions that can be diagnostically challenging for pathologists. Data on the clinical behaviour and molecular characterisation of these mammary tumours are limited and their designation is mainly based on similar salivary gland or skin lesions. In this study, we present three cylindromatous breast tumours. These lesions were located within the breast, had ill-defined margins and were composed of nests containing a dual population of cytologically bland cells, surrounded at least partially by basement membrane-like material. The lack of cytological atypia and absence of mitoses led to the diagnosis of benign mammary cylindroma in 1 case. The expression of oestrogen receptor, focal absence of basement membrane material and the focal infiltrative nature together with patchy absence of peripheral basement membrane supported the diagnosis of malignancy in the other 2 cases. We discuss the morphological criteria, immunohistochemical profile and diagnostic pitfalls of these tumours. We also review the literature including previously reported cases of mammary cylindroma and differential diagnoses to be considered before making a diagnosis. We propose the term ‘mammary tumours with cylindromatous differentiation', implying their uncertain malignant nature, and propose management strategies.

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Section: Discussionmentioning

confidence: 98%

Breast Neoplasms with Dermal Analogue Differentiation (Mammary Cylindroma): Report of 3 Cases and a Proposal for a New Terminology

et al. 2015

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“…One of the differential diagnoses of the basaloid variant of AdCC of the breast is the even rarer breast cylindroma, which is a benign, adnexal‐type tumour . Only 11 cases of breast cylindromas have been reported in the English literature (Table ) . Although diagnosed more frequently in elderly women, cylindromas can affect younger women and may be part of hereditary syndromes, such as Brooke–Spiegler syndrome and familial cylindromatosis .…”

Section: Introductionmentioning

confidence: 99%

Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing

et al. 2015

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Aims The aims of this study were to perform a whole-exome sequencing analysis of a breast cylindroma and to investigate the role of molecular analyses in the differentiation between breast cylindroma, a benign tumor that displays MYB expression and CYLD gene mutations, and its main differential diagnosis, the breast solid-basaloid adenoid cystic carcinoma, a malignant tumor that is characterized by the presence of the MYB-NFIB fusion gene and MYB overexpression. Methods and Results A 66-year old female underwent quadrantectomy after an irregular dense shadow was discovered in the right breast at the screening mammogram. Histologically, the tumor displayed features suggestive of a solid-basaloid variant of adenoid cystic carcinoma with a differential diagnosis of cylindroma. Fluorescence in situ hybridization, reverse transcription PCR, immunohistochemistry and whole-exome sequencing revealed absence of the MYB-NFIB fusion gene, low levels of MYB protein expression and a clonal somatic CYLD splice site mutation associated with loss of heterozygosity of the wild-type allele. Conclusions The results of the histologic, immunohistochemical and molecular analyses were consistent with a diagnosis of breast cylindroma, providing a proof-of-principle that the integration of histopathologic and molecular approaches can help differentiate between a low-malignant potential and a benign breast tumor of triple-negative phenotype.

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“…Of these tumors, approximately 6% are reported to involve the ear, as in our patient 25,28 . In exceptional cases, cylindromas can also occur in even more unusual locations, such as the lung or the breast 29,30 …”

Section: Discussionmentioning

confidence: 57%

Brooke–Spiegler syndrome complicated by unilateral hearing loss

et al. 2008

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Brooke-Spiegler syndrome is an autosomal dominant tumor predisposition disorder. The disease is characterized by the occurrence of multiple skin appendage tumors, including cylindroma, trichoepithelioma, and spiradenoma. In some patients, tumors cover the entire head circumference, thereby causing disfigurement and other complications. Here, we report on a man with multiple cylindroma that were distributed in a turban tumor-like fashion. One of these neoplasms arose in the meatus externus of the right ear leading to unilateral hearing loss, a complication that has been documented only on few occasions in this disease.

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Fine Needle Aspiration Cytology of Breast Cylindroma in a Woman with Familial Cylindromatosis

Cited by 14 publications

References 14 publications

Breast Neoplasms with Dermal Analogue Differentiation (Mammary Cylindroma): Report of 3 Cases and a Proposal for a New Terminology

Breast Neoplasms with Dermal Analogue Differentiation (Mammary Cylindroma): Report of 3 Cases and a Proposal for a New Terminology

Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing

Brooke–Spiegler syndrome complicated by unilateral hearing loss

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