breast carcinomas
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Author(s):  
Yasemin Sahin ◽  
Ibrahim H. Erdogdu ◽  
Merih Guray Durak ◽  
Duygu Gurel ◽  
Aysegul A. Sahin
Keyword(s):  

2021 ◽  
Vol 59 (244) ◽  
pp. 1320-1322
Author(s):  
Sulochana Neupane ◽  
Sanam Dhakal ◽  
Shripad Walawalakar ◽  
Surya Bahadur Parajuli ◽  
Sulav Sapkota

Primary neuroendocrine carcinomas of the breast are rare of all breast carcinomas. They may be welldifferentiated, poorly differentiated, or invasive breast cancers with neuroendocrine differentiation. They are staged and treated similarly to conventional breast cancer. Herein, we report a case of invasive ductal carcinoma with neuroendocrine differentiation of the breast in a 73 years female with a history of breast lump initially in the lower inner quadrant of left breast and a month later, similar lump at the same site in right breast. Patient underwent Modified Radical Mastectomy bilaterally followed by adjuvant chemotherapy based on Carboplatin and Etoposide regimen.


Author(s):  
Natalia Bednarz-Knoll ◽  
Marta Popęda ◽  
Tomasz Kryczka ◽  
Barbara Kozakiewicz ◽  
Katarzyna Pogoda ◽  
...  

2021 ◽  
Vol 67 (5) ◽  
pp. 658-664
Author(s):  
Svetlana Aleksakhina ◽  
Aglaya Ievleva ◽  
Anna Sokolenko ◽  
Sofia Baskina ◽  
Ajgul Venina ◽  
...  

Background. CHEK2-associated neoplasms account for a significant proportion of hereditary breast cancer (BC) in Russia. The phenomenon of somatic deletion of the normal allele of a gene affected by a hereditary mutation, or loss of heterozygosity (LOH), is a frequent mechanism of complete inactivation of the corresponding protein, which is realized during the development of hereditary breast carcinomas. The contribution of the LOH phenomenon to the pathogenesis of CHEK2-dependent tumors is poorly understood, and almost all available data concern only one type of mutations - CHEK2 1100delC. The aim of the study was to characterize the frequency of LOH in breast tumor tissues from carriers of the three types of CHEK2 alterations: CHEK2 1000delC, CHEK2 IVS2+1G>A, and CHEK2 del5395. Materials and methods. LOH analysis was performed in a group of 50 breast cancer cases from women carrying CHEK2 1000delC (n = 19), CHEK2 IVS2+1G>A (n = 12), and CHEK2 del5395 (n = 19) mutations. Detection of LOH was carried out using a combination of methods that directly analyze the mutation locus (allele-specific PCR, Sanger sequencing, digital droplet PCR), and assess the status of single nucleotide polymorphisms surrounding the CHEK2 gene (digital droplet PCR).Results. The frequency of the LOH phenomenon in the studied cohort reached 27/50 (54%). Loss of heterozygosity was observed in 10/19 (52.6%) CHEK2 1000delC-associated, 6/12 (50%) CHEK2 IVS2+1G>A-associated, and 11/19 (57.9%) CHEK2 del5395-associated tumors. In one carcinoma from a carrier of the CHEK2 IVS2+1G>A alteration, the loss of mutated allele was confirmed. The main clinical and pathological characteristics were compared between tumors with loss and retention of heterozygosity. This comparison did not reveal any significant differences.Conclusion. Loss of heterozygosity is observed in about half of breast carcinomas arising in CHEK2 mutation carriers; the frequency of this phenomenon does not differ between three types of CHEK2 genetic defects.


2021 ◽  
Vol 27 ◽  
Author(s):  
Sándor Turkevi-Nagy ◽  
Ágnes Báthori ◽  
János Böcz ◽  
László Krenács ◽  
Gábor Cserni ◽  
...  

Introduction: A subset of breast neoplasia is characterized by features of neuroendocrine differentiation. Positivity for Neuroendocrine markers by immunohistochemistry is required for the diagnosis. Sensitivity and specificity of currently used markers are limited; based on the definitions of WHO Classification of Tumours, 5th edition, about 50% of breast tumors with features of neuroendocrine differentiation express chromogranin-A and 16% express synaptophysin. We assessed the applicability of two novel markers, syntaxin-1 and insulinoma-associated protein 1 (INSM1) in breast carcinomas.Methods: Hypercellular (Type B) mucinous carcinomas, solid papillary carcinomas, invasive carcinomas of no special type with neuroendocrine features and ductal carcinomas in situ of neuroendocrine subtype were included in our study. The immunohistochemical panel included chromogranin A, synaptophysin, CD56, syntaxin-1 and INSM1. The specificity of syntaxin-1 and INSM1 was determined using samples negative for chromogranin A, synaptophysin and CD56.Results: The sensitivity of syntaxin-1 was 84.7% (50/59), with diffuse positivity in more than 60% of the cases. Syntaxin-1 also had an excellent specificity (98.1%). Depending on the definition for positivity, the sensitivity of INSM1 was 89.8% (53/59) or 86.4% (51/59), its specificity being 57.4% or 88.9%. The sensitivities of chromogranin A, synaptophysin and CD56 were 98.3, 74.6 and 22.4%, respectively.Discussion: Syntaxin-1 and INSM1 are sensitive and specific markers of breast tumors with neuroendocrine features, outperforming chromogranin A and CD56. We recommend syntaxin-1 and INSM1 to be included in the routine neuroendocrine immunohistochemical panel.


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