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Cylindroma of the breast with CYLD gene mutation: a case report and review of the literature. | LitMetric

AI Article Synopsis

  • Cylindroma of the breast is a rare benign tumor first described in 2001, with only 20 cases reported, including a new case in a 60-year-old woman that revealed a specific CYLD gene mutation.
  • The tumor displayed a distinct "jigsaw" pattern under microscopic examination and had a triple-negative phenotype, sometimes making it hard to distinguish from a similar cancer variant.
  • Accurate diagnosis is crucial, as cylindromas are benign while the solid-basaloid variant of adenoid cystic carcinoma is not; molecular testing can aid in clarifying ambiguous cases.

Article Abstract

Background: Cylindroma of the breast is a rare benign neoplasm. Since its first description in 2001, 20 cases have been reported in the literature.

Methods And Results: We report another case of this rare tumor in a 60-year-old woman with demonstration of the underlying molecular alteration. Histologically, the tumor showed the typical "jigsaw" pattern of a dual population of cells with a triple-negative phenotype. The pathognomonic mutation of the CYLD gene mutation was detected by whole exome sequencing. Cylindromas show morphological overlap with the solid-basaloid variant of adenoid cystic carcinoma, which renders this differential diagnosis difficult. However, distinction of these two lesions is of outmost importance, since cylindromas, in contrast to solid-basaloid variant of adenoid cystic carcinoma, behave in an entirely benign fashion.

Conclusions: Careful evaluation of morphological features such as mitotic figures and cellular atypia is crucial in the diagnostic work-up of triple-negative breast lesions. It is important to keep cylindroma in mind as a pitfall and possible differential diagnosis for the solid-basaloid variant of adenoid cystic carcinoma. Molecular detection of CYLD gene mutation is helpful in cases with ambiguous histology. With this case report, we aim to contribute to a better understanding of mammary cylindroma and facilitate the diagnosis of this rare entity.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10374682PMC
http://dx.doi.org/10.1007/s11033-023-08606-yDOI Listing

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