Subclonal analysis in a lobular breast cancer with classical and solid growth pattern mimicking a solid-papillary carcinoma

Solid papillary carcinoma (SPC) is considered a rare malignant breast tumor. Maluf and Koerner first reported this disease entity as a special type of ductal carcinoma in situ with several characteristic histopathological features, including low-grade cellular atypia, intracellular or extracellular mucin deposition, and solid papillary growth pattern, as well as neuroendocrine differentiation. The present paper describes a case of SPC with bcl-2 expression, which is known as a marker for malignancy of neuroendocrine tumors. Interestingly, despite bcl-2 expression being a poor prognostic indicator of neuroendocrine tumors, the patient with this tumor has achieved long-term survival (approximately 6 years) at the time of writing this report. Because previous investigators reported that bcl-2 expression might play a role in the inhibition of the development of breast cancer, we suggest that bcl-2 expression might reflect a good prognosis in patients with SPC, rather than being a poor prognostic indicator, as it is in several types of neuroendocrine tumor. However, to confirm this hypothesis, further investigation is required.

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PAPILLARY CARCINOMA OF MALE BREAST: AN UNCOMMON PATHOLOGY OF BREAST CANCER

10.26226/morressier.599bdc79d462b80296ca089d ◽

2017 ◽

Author(s):

Mona Rezgani

Keyword(s):

Breast Cancer ◽

Papillary Carcinoma ◽

Male Breast

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89Zr-atezolizumab PET Scan and Lobular Breast Cancer

Case Medical Research ◽

10.31525/ct1-nct04222426 ◽

2020 ◽

Author(s):

Keyword(s):

Breast Cancer ◽

Pet Scan ◽

Lobular Breast Cancer

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Clinical spectrum and pleiotropic nature of CDH1 germline mutations

Journal of Medical Genetics ◽

10.1136/jmedgenet-2018-105807 ◽

2019 ◽

Vol 56 (4) ◽

pp. 199-208 ◽

Cited By ~ 18

Author(s):

Joana Figueiredo ◽

Soraia Melo ◽

Patrícia Carneiro ◽

Ana Margarida Moreira ◽

Maria Sofia Fernandes ◽

...

Keyword(s):

Breast Cancer ◽

Gastric Cancer ◽

Genetic Alterations ◽

Tumour Suppressor Gene ◽

Diffuse Gastric Cancer ◽

Loss Of Function ◽

Lobular Breast Cancer ◽

Cancer Syndrome ◽

Risk Of Cancer ◽

E Cadherin

CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of CDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations in CDH1 mutation carriers.

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Invasive solid papillary carcinoma with neuroendocrine differentiation of the breast: a case report and literature review

Surgical Case Reports ◽

10.1186/s40792-020-00905-x ◽

2020 ◽

Vol 6 (1) ◽

Author(s):

Xue Lin ◽

Yoshiaki Matsumoto ◽

Tomomi Nakakimura ◽

Kazuo Ono ◽

Shigeaki Umeoka ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Papillary Carcinoma ◽

Neuroendocrine Differentiation ◽

Solid Papillary Carcinoma

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Extended gene panel testing in lobular breast cancer

Familial Cancer ◽

10.1007/s10689-021-00241-5 ◽

2021 ◽

Author(s):

Elke M. van Veen ◽

D. Gareth Evans ◽

Elaine F. Harkness ◽

Helen J. Byers ◽

Jamie M. Ellingford ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Detection Rate ◽

Gene Panel ◽

Lobular Breast Cancer ◽

Germline Variants ◽

Panel Testing ◽

Pathogenic Variants ◽

Gene Panel Testing ◽

Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

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