Subareolar sclerosing ductal hyperplasia shows PI3K pathway alterations

IF 3.9 2区医学 Q2 CELL BIOLOGY

Histopathology Pub Date : 2025-01-30 DOI:10.1111/his.15416

Baris Boyraz, Brian Robinson, Neal Lindeman, Syed A Hoda, James P Solomon

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Abstract

Aims

Subareolar sclerosing ductal hyperplasia (SSDH) is a distinct type of complex sclerosing hyperplastic lesion first described by Rosen in 1987. There have been rare studies investigating SSDH; however, no genetic study has been performed to date.

Methods and results

Seven SSDH cases, diagnosed between 2013 and 2024, were identified. All were subjected to next-generation sequencing (523 genes). Patient ages ranged from 40 to 74 years (median = 46). All lesions were located in the subareolar region. Each showed the characteristic appearance of the lesion, as described in the seminal study, with usual ductal hyperplasia in a densely sclerotic background imparting an ‘infiltrative’ appearance. None of the cases showed atypical hyperplasia or carcinoma. DNA sequencing identified PI3K pathway alterations in all seven cases: PIK3CA (n = three, one with two alterations), PIK3R1 (n = three) and PIK3C3 (n = one, with concurrent FAT1 mutation).

Conclusion

SSDH shows PI3K pathway alterations similar to those seen in other non-atypical and atypical proliferative lesions as well as benign and malignant neoplasms of the breast. This finding may explain the rare association of SSDH with atypical hyperplasia, in-situ and invasive carcinoma.

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乳晕下硬化性导管增生显示PI3K通路改变。

目的：乳晕下硬化性导管增生（SSDH）是一种独特类型的复杂硬化性增生性病变，Rosen于1987年首次描述。很少有研究调查SSDH；然而，到目前为止还没有进行基因研究。方法与结果：选取2013 - 2024年间确诊的SSDH病例7例。所有样本均进行了下一代测序（523个基因）。患者年龄40 ~ 74岁（中位46岁）。所有病变均位于乳晕下区。每一个都表现出病变的特征性外观，如精囊检查所描述的，在致密硬化背景下常见的导管增生赋予“浸润”外观。未见不典型增生或癌。DNA测序在所有7例病例中发现PI3K通路改变：PIK3CA （n = 3, 1例有2个改变），PIK3R1 （n = 3）和PIK3C3 （n = 1，并发FAT1突变）。结论：SSDH的PI3K通路改变与乳腺其他非典型、非典型增生性病变及良恶性肿瘤相似。这一发现可以解释SSDH与不典型增生、原位癌和浸润性癌的罕见关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Histopathology 医学-病理学

CiteScore

10.20

自引率

4.70%

发文量

239

审稿时长

1 months

期刊介绍： Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ histopathological methods. Our primary purpose is to publish advances in pathology, in particular those applicable to clinical practice and contributing to the better understanding of human disease.