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乳腺螺旋腺瘤:具有双细胞群体的实性基底样乳腺病变评估中的罕见诊断陷阱。

Spiradenoma of the breast: a rare diagnostic pitfall in the evaluation of solid-basaloid breast lesions with a dual cell population.

机构信息

Department of Pathology, Nakagami Hospital, Noborikawa, Okinawa City, Okinawa, 904-2195, Japan.

Genomics Unit, Keio Cancer Center, Keio University School of Medicine, Tokyo, Japan.

出版信息

Virchows Arch. 2021 Aug;479(2):401-405. doi: 10.1007/s00428-020-02958-7. Epub 2020 Nov 5.

DOI:10.1007/s00428-020-02958-7
PMID:33150535
Abstract

Breast spiradenoma is extremely rare, with only 4 cases reported previously. We describe an instructive case of breast spiradenoma resembling adenoid cystic carcinoma (AdCC). A 71-year-old woman underwent excisional biopsy of a breast mass after a conclusive diagnosis was unable to be obtained from core needle biopsy showing an AdCC-like pattern. Histopathologically, the lesion demonstrated solid and cribriform foci comprising basaloid cells, luminal cells, and eosinophilic hyaline material, reminiscent of solid-basaloid AdCC, alongside convoluted lumens, stromal edema, lymphocytic infiltration, and c-kit negativity. On molecular analysis, neither MYB fusion genes nor CYLD gene abnormalities were identified. These results were supportive of spiradenoma. Salivary gland- and skin adnexal-type tumors are challenging to diagnose due to morphological overlaps. This case, highlighting histopathological and molecular features, shows that breast spiradenoma can be a diagnostic pitfall among the differential diagnoses of AdCC.

摘要

乳腺螺旋腺瘤极其罕见,既往仅报道过 4 例。我们描述了 1 例具有腺泡状囊性癌(AdCC)特征的乳腺螺旋腺瘤。1 例 71 岁女性,在核心针活检提示 AdCC 样模式但无法明确诊断后,行乳房肿块切除术。组织病理学上,病变显示出实性和筛状灶,包含基底样细胞、腔细胞和嗜酸性透明物质,类似于实性基底样 AdCC,同时伴有迂曲的腔、间质水肿、淋巴细胞浸润和 c-kit 阴性。分子分析未发现 MYB 融合基因或 CYLD 基因异常。这些结果支持螺旋腺瘤的诊断。由于形态学重叠,涎腺和皮肤附属器肿瘤的诊断具有挑战性。本病例突出了其组织病理学和分子特征,表明乳腺螺旋腺瘤在 AdCC 的鉴别诊断中可能是一个诊断陷阱。

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本文引用的文献

1
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.ALK1 热点突变作为人类汗腺瘤和汗管癌的驱动因素。
Nat Commun. 2019 May 17;10(1):2213. doi: 10.1038/s41467-019-09979-0.
2
MYB Labeling by Immunohistochemistry Is More Sensitive and Specific for Breast Adenoid Cystic Carcinoma than MYB Labeling by FISH.与荧光原位杂交(FISH)检测MYB相比,免疫组织化学检测MYB对乳腺腺样囊性癌更敏感且特异。
Am J Surg Pathol. 2017 Jul;41(7):973-979. doi: 10.1097/PAS.0000000000000878.
3
Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing.
解决难题:基底样腺样囊性癌还是乳腺圆柱瘤?大规模平行测序的作用。
Histopathology. 2016 Jan;68(2):262-71. doi: 10.1111/his.12735. Epub 2015 Jun 29.
4
MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features.乳腺腺样囊性癌中的MYB-NFIB基因融合,特别关注具有基底样特征的实体变体。
Hum Pathol. 2014 Nov;45(11):2270-80. doi: 10.1016/j.humpath.2014.07.013. Epub 2014 Aug 7.
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The mutational landscape of adenoid cystic carcinoma.腺样囊性癌的突变全景。
Nat Genet. 2013 Jul;45(7):791-8. doi: 10.1038/ng.2643. Epub 2013 May 19.
6
The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma.MYB-NFIB 基因融合——腺样囊性癌和皮肤圆柱瘤之间的新的遗传联系。
J Pathol. 2011 Jul;224(3):322-7. doi: 10.1002/path.2909. Epub 2011 May 27.
7
Carcinosarcoma arising in eccrine spiradenoma of the breast. Report of a case and review of the literature.乳腺小汗腺螺旋腺瘤中发生的癌肉瘤。1例报告并文献复习。
Arch Pathol Lab Med. 1996 May;120(5):501-4.