Microglandular adenosis is an advanced precursor breast lesion with evidence of molecular progression to matrix-producing metaplastic carcinoma

Schwartz, Christopher; Dolgalev, Igor; Yoon, Esther; Osman, Iman; Heguy, Adriana; Miera, Eleazar C. Vega-Saenz de; Nimeh, Diana; Jour, George; Darvishian, Farbod

doi:10.1016/j.humpath.2018.10.021

Cited by 12 publications

(12 citation statements)

References 32 publications

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“…Schwartz et al suggested a plausible role of ZNF862 in matrix-producing metaplastic carcinoma. 28 Peng et al reported ZNF862 associated with IgE-mediated type-I hypersensitivity in children. 29 The WES-identified heterozygous variant (p.A938T) in our study located close to and upstream of the Dimer_Tnp_hAT (hAT family C-terminal dimerization region) domain of ZNF862 protein (Figure 1D).…”

Section: Resultsmentioning

confidence: 99%

“…ZNF862 is expressed ubiquitously across tissues ( Fagerberg et al, 2014 ), it may play various roles under different physiological condition. Schwartz et al, 2019 , suggested a plausible role of ZNF862 in matrix-producing metaplastic carcinoma. Peng et al, 2018 , reported ZNF862 associated with IgE-mediated type-I hypersensitivity in children.…”

Section: Resultsmentioning

confidence: 99%

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A novel gene ZNF862 causes hereditary gingival fibromatosis

Chen

Huang

et al. 2022

eLife

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Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis which is featured as a localized or generalized overgrowth of gingivae. Currently two genes (SOS1 and REST), as well as four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15), have been identified as associated with HGF in a dominant inheritance pattern. Here we report thirteen individuals with autosomal-dominant HGF from a four-generation Chinese family. Whole-exome sequencing followed by further genetic co-segregation analysis was performed for the family members across three generations. A novel heterozygous missense mutation (c.2812G>A) in zinc finger protein 862 gene (ZNF862) was identified, and it is absent among the population as per the Genome Aggregation Database. The functional study supports a biological role of ZNF862 for increasing the profibrotic factors particularly COL1A1 synthesis and hence resulting in HGF. Here for the first time we identify the physiological role of ZNF862 for the association with the HGF.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

A novel gene ZNF862 causes hereditary gingival fibromatosis

Chen

Huang

et al. 2022

eLife

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“…The presence of TP53 mutation thus may indicate a risk of progression or presence of unsampled or undiagnosed associated invasive carcinoma. A case study by Schwartz et al 6 showed presence of stop-gain TP53 R213X mutation in MGA and associated carcinoma by sequencing, but p53 immunohistochemical staining was negative. The abovementioned mutation may alter/truncate TP53 protein, and thus is only reliably detected by sequencing.…”

Section: Molecular Featuresmentioning

confidence: 99%

“…Recent next-generation sequencing studies showed that MGA is clonally related to atypical MGA and associated basal-like or triple-negative (estrogen receptor [ER], progesterone receptor [PR], and HER2/neu [HER2] negative) breast carcinoma (TNBC); therefore, MGA is currently considered to be a nonobligate precursor of TNBC. 5,6 CLINICAL FEATURES Microglandular adenosis is a very rare breast lesion and is present in less than 0.1% of breast biopsies. To date MGA has been reported only in female patients.…”

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confidence: 99%

Microglandular Adenosis and Associated Invasive Carcinoma

Kravtsov

Jorns

2019

Archives of Pathology &Amp; Laboratory Medicine

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Context.— Microglandular adenosis is a rare borderline neoplastic lesion of the breast composed of haphazardly located small, round tubules with a single cell layer interspersed within breast stroma and/or adipose tissue. Microglandular adenosis is devoid of a myoepithelial cell layer, and has a characteristic immunophenotype, being positive for S100 and negative for estrogen receptor, progesterone receptor, and HER2/ neu. When associated with cancer, microglandular adenosis and associated invasive carcinoma share the same molecular alterations, including TP53 mutation; therefore, microglandular adenosis is considered a nonobligate precursor of triple (HER2/ neu, estrogen and progesterone receptors)–negative breast carcinoma. Microglandular adenosis is an important diagnostic pitfall as it can be easily mistaken for a low-grade invasive carcinoma. Objective.— To provide a review of the clinicopathologic features of microglandular adenosis and associated invasive carcinoma, with emphasis on key features separating entities in the differential diagnosis. Data Sources.— Review of current literature on microglandular adenosis and associated invasive carcinoma and personal experience of authors. Conclusions.— Microglandular adenosis can mimic breast carcinoma; attention to key features, including morphologic-immunophenotypic correlation, is essential in establishing the diagnosis.

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“…In some occasions, MPC has been associated with microglandular adenosis [6]. Schwartz et al have recently reported a case of microglandular adenosis with evidence of molecular progression to MPC [7].…”

Section: Discussionmentioning

confidence: 99%

Matrix-producing Breast Carcinoma: A Rare Subtype of Metaplastic Breast Carcinoma

Koufopoulos

Kokkali

Antoniadou

et al. 2019

Cureus

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Matrix-producing carcinoma (MPC) is a rare subtype of metaplastic breast carcinoma (MBC) that was first described in 1989 by Wargotz and Norris. It accounts for less than 1% of breast carcinomas and has distinctive clinical, morphological, and immunohistochemical features. Histologically it consists of invasive carcinoma of no special type with transition to cartilaginous or osseous matrix without a spindle cell component. Data on this entity are limited with the literature consisting mostly of case reports and a small number of case series. We report a case of matrix-producing breast carcinoma, with excellent clinical outcome. We also discuss the histogenesis, imaging, histological, and immunohistochemical characteristics, treatment, and focus on the differential diagnosis of this rare tumor.

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Microglandular adenosis is an advanced precursor breast lesion with evidence of molecular progression to matrix-producing metaplastic carcinoma

Cited by 12 publications

References 32 publications

A novel gene ZNF862 causes hereditary gingival fibromatosis

A novel gene ZNF862 causes hereditary gingival fibromatosis

Microglandular Adenosis and Associated Invasive Carcinoma

Matrix-producing Breast Carcinoma: A Rare Subtype of Metaplastic Breast Carcinoma

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