Cytological and molecular characterization of secretory breast carcinoma

Carretero‐Barrio, Irene; Santón, Almudena; Casas, Tamara; Miranda, Elena; Reguero-Callejas, María Eugenia; Pérez-Míes, Belén; Benito, Amparo; Palacios, José

doi:10.1002/dc.24945

Cited by 4 publications

(1 citation statement)

References 30 publications

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“…It serves as a more cost-effective and rapid test than do ETV6 FISH or NGS-based assays. Similarly, Carretero-Barrio et al ( 62 ) also reported a case with recurrent SBC diagnosed by fine-needle aspiration based on the cytomorphological features and pan-TRK IHC on the cell block, and identified TRK overexpression, as a fusion surrogate, on the cytological sample. Furthermore, Remoué et al ( 56 ) found that only 1 of 339 invasive breast carcinomas was positive according to pan-TRK IHC staining and that other nonsecretory carcinomas do not harbor any TRK protein expression, showing negative for pan-TRK IHC.…”

Section: Histopathological and Genetic Characteristicsmentioning

confidence: 86%

Advancement of secretory breast carcinoma: a narrative review

Min¹,

Zhu²,

Liu³

et al. 2022

Ann Transl Med

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Background and Objective: Secretory breast carcinoma (SBC) is a rare breast malignancy. Most available studies on SBC are case reports or small case series, and the few large-sample studies available lack critical information due to database limitations. To improve the understanding of SBC and provide a reference for clinical practice, we systematically reviewed the demographic, clinical, pathologic, and genetic characteristics of SBC, as well as its treatment and prognosis.Methods: We conducted a PubMed search with the keywords "secretory breast carcinoma" or "juvenile breast carcinoma". Relevant English-language publications published from January 1966 to February 2022 were screened manually at 3 levels-title, abstract, and full text-to identify the articles that presented the demographic, clinical, pathologic, and genetic characteristics of SBC, as well as its treatment and prognosis.Key Content and Findings: SBC lacks specific clinical manifestations and has typical pathological and molecular characteristics, including intracellular and extracellular eosinophilic secretions, immune spectrum similar to hormone receptor-positive tumors, and the ETV6-NTRK3 fusion gene. Surgery remains the primary treatment for SBC. Postoperative radiotherapy is recommended by most researchers for adult SBC but not for pediatric patients. The evidence of chemotherapy and endocrine therapy is insufficient, and targeted therapy of the ETV6-NTRK3 fusion gene shows a good response. Most patients with SBC have a good prognosis except for a few patients who experience distant metastases. Future studies will be focused on the molecular characteristics of those patients with SBC who have a poor prognosis. Conclusions:The development of histopathology and molecular genetics has promoted the progress of the clinical diagnosis of SBC. The purpose of this review is to serve as a guide for the better clinical treatment of SBC, particularly in the areas of disease identification and prognosis classification for patients.

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Section: Histopathological and Genetic Characteristicsmentioning

confidence: 86%

Advancement of secretory breast carcinoma: a narrative review

Min¹,

Zhu²,

Liu³

et al. 2022

Ann Transl Med

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Cytological and molecular characterization of secretory breast carcinoma

Carretero‐Barrio

Santón

Casas

et al. 2022

Diagnostic Cytopathology

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Secretory breast carcinoma is a rare neoplasm, histologically well-characterized, and secondary to ETV6-NTRK3 gene fusion, whose cytological features are scarcely described in the literature. We report the case of a woman with a history of secretory breast carcinoma 8 years before, who presented a periareolar nodule.A recurrence was diagnosed by fine-needle aspiration based on the cytomorphological features and pan-TRK immunocytochemistry on the cell block, and the patient underwent a mastectomy. The histology and molecular studies performed on the surgical specimen (immunohistochemistry, FISH and NGS) confirmed the diagnosis. Cytological smears showed abundant epithelial cellularity, in groups and single cells. These cells showed moderate atypia, with abundant cytoplasm. We observed intracytoplasmic inclusions and extracellular metachromatic globules. Immunocytochemical and immunohistochemical studies showed a triple negative breast tumour. NTRK overexpression was demonstrated with immunocytochemistry against pan-TRK on the cell block, as well as with immunohistochemistry in the surgical specimen. NTRK3 rearrangement was proved by FISH. In the primary tumour and in the recurrence, we demonstrated ETV6-NTRK3 fusion by NGS. After conducting a literature review, we have found 26 articles describing the cytological features of secretory breast carcinoma in 33 patients. The smears were described as groups of epithelial cells with vacuolated cytoplasm, single signet ring cells and a globular extracellular secretion.In only two cases molecular confirmation of the diagnosis with ETV6-NTRK3 fusion was proven, although not in the cytological specimen, but in the subsequent biopsy. The distinct cytological features of secretory breast carcinoma can help in its diagnosis, thus guiding the molecular studies. This is the first reported case that proves TRK overexpression, as a fusion surrogate, in the cytological sample.

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NTRK fusion promotes tumor migration and invasion through epithelial–mesenchymal transition and closely interacts with ECM1 and NOVA1

Zeng,

Jiang,

et al. 2024

BMC Cancer

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Background The NTRK fusion gene is a rare cancer driver and a typical representative "diamond mutation". Its unique role in tumor progression is highly important for the clinical diagnosis and treatment of patients with tumors. We searched for NTRK fusion-positive patients in our hospital. As of August 2022, a total of 8 patients were affected. We discovered that NTRK fusion was associated with enhanced tumor invasion and migration ability. Previous reports also support this finding, but its underlying mechanism has not been elucidated. Methods We undertook a comprehensive exploration of the correlations between NTRK fusions and tumor invasion as well as migration by analysing clinical data, performing bioinformatics analysis via public databases, and conducting in vitro cell experiments. Results We ascertained that within the thyroid cancer (THCA) dataset and the pancancer dataset, ECM1 and NOVA1 were coexpressed with NTRKs. Additionally, they demonstrated a significant association with the activity of the epithelial‒mesenchymal transition (EMT) pathway. Furthermore, these genes are overexpressed in various cancers and are associated with advanced clinical stage and increased aggressiveness. Our in vitro study revealed that larolutinib potentially inhibited the invasion and metastasis ability of NTRK-fused cells. Interestingly, contrary to previous findings, the repression of ECM1 increased the migration and invasion ability of NTRK-fused tumor cells. Conclusions NTRK fusion tumors present heightened migratory and invasive potential in clinical settings. Further experiments confirmed the significant inhibitory effects of TRK inhibitors on the migration and invasion abilities of these cells. There is a complex relationship between ECM1, NOVA1 and NTRK fusion; however, further research is needed to determine whether NTRK fusion promotes tumor metastasis through these two genes. Supplementary Information The online version contains supplementary material available at 10.1186/s12885-024-13271-w.

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Cytological and molecular characterization of secretory breast carcinoma

Cited by 4 publications

References 30 publications

Advancement of secretory breast carcinoma: a narrative review

Advancement of secretory breast carcinoma: a narrative review

Cytological and molecular characterization of secretory breast carcinoma

NTRK fusion promotes tumor migration and invasion through epithelial–mesenchymal transition and closely interacts with ECM1 and NOVA1

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