PDF(Pubmed)
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.
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.
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.
摘要：
背景：乳腺圆柱瘤是一种罕见的良性肿瘤。自2001年首次描述以来，文献中已报道了20例。
结果：我们报告了另一例60岁女性的这种罕见肿瘤，并显示了潜在的分子改变。组织学上,肿瘤表现出典型的“拼图”模式，具有三阴性表型的双重细胞群。通过全外显子组测序检测CYLD基因突变的致病基因突变。圆柱瘤显示与腺样囊性癌的实性基底样变体的形态重叠，这使得鉴别诊断变得困难。然而,区分这两个病变是最重要的，自从圆柱瘤以来，与腺样囊性癌的实性基底细胞样变体相反，表现得完全良性。
结论：仔细评估有丝分裂图和细胞异型性等形态学特征对于三阴性乳腺病变的诊断检查至关重要。重要的是要记住圆柱瘤作为腺样囊性癌的固体-基底样变体的陷阱和可能的鉴别诊断。CYLD基因突变的分子检测有助于组织学模糊的病例。有了这个病例报告,我们的目标是有助于更好地了解乳腺圆柱瘤，并促进这种罕见实体的诊断。
结果：我们报告了另一例60岁女性的这种罕见肿瘤，并显示了潜在的分子改变。组织学上,肿瘤表现出典型的“拼图”模式，具有三阴性表型的双重细胞群。通过全外显子组测序检测CYLD基因突变的致病基因突变。圆柱瘤显示与腺样囊性癌的实性基底样变体的形态重叠，这使得鉴别诊断变得困难。然而,区分这两个病变是最重要的，自从圆柱瘤以来，与腺样囊性癌的实性基底细胞样变体相反，表现得完全良性。
结论：仔细评估有丝分裂图和细胞异型性等形态学特征对于三阴性乳腺病变的诊断检查至关重要。重要的是要记住圆柱瘤作为腺样囊性癌的固体-基底样变体的陷阱和可能的鉴别诊断。CYLD基因突变的分子检测有助于组织学模糊的病例。有了这个病例报告,我们的目标是有助于更好地了解乳腺圆柱瘤，并促进这种罕见实体的诊断。
