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CytoJournal 2023The objectives of this study were to review the transbronchial brushing cytology and histological specimens of endobronchial tuberculosis (EBTB) and to explore the...
OBJECTIVES
The objectives of this study were to review the transbronchial brushing cytology and histological specimens of endobronchial tuberculosis (EBTB) and to explore the morphological features, diagnostic pitfalls, and dilemmas.
MATERIAL AND METHODS
Transbronchial brushing cytology and concurrent biopsy specimens obtained between July 2017 and June 2020 were reviewed. EBTB was confirmed based on the clinical response to the anti-TB treatment in addition to the positive findings of at least one of the following methods: Acid-fast bacilli stain (AFB), auramine-rhodamine stain (A-R), detection of TB bacterial DNA (TB-DNA) by polymerase chain reaction, T-cell spot test (T-spot), and typical pathologic changes of TB on cytology or bronchoscopy biopsy. A total of 72 confirmed cases were studied.
RESULTS
Of the 72 patients, 42/72 (58.3%) and 30/72 (41.7%) were female and male patients, respectively. Bronchoscopic findings revealed five subtypes of EBTB, including inflammation infiltration, ulceration necrosis, granulation hyperplasia, cicatrices stricture, and tracheobronchial malacia. AFB, A-R, TB-DNA, and T-spot were positive in 39, 26, 33, and 46 cases, respectively. The detection rate of necrosis in the cytological specimens (90.3%) was significantly higher than that in the biopsy specimens (77.8%; < 0.01). The percentage of Langhans giant cells detected by cytology (13.9%) was significantly lower than that detected by the pathological examinations of the tissues (38.9%) ( < 0.01). The detection rates of metaplastic squamous cells and epithelioid cells showed no significant difference with respect to the cytology and biopsy findings. In addition to the two patients who had concurrent carcinomas, atypical cells were reported in nine patients through cytopathological diagnosis, among them two were suspected to have carcinomas, two were with the impression that spindle cell neoplasms could not be excluded, and the other five were considered as reactive atypia. Moreover, one biopsy could not rule out the well-differentiated squamous cell carcinoma.
CONCLUSION
Some morphological variations may cause challenges in cytological evaluation. Moreover, diagnostic dilemmas can occur even in the assessments of tissue pathology.
PubMed: 38213510
DOI: 10.25259/Cytojournal_35_2023 -
Cancers Dec 2023Metaplastic breast cancer (BC-Mp) presents diagnostic and therapeutic complexities, with scant literature available. Correct assessment of tumor size by ultrasound (US)...
Discrepancy between Tumor Size Assessed by Full-Field Digital Mammography or Ultrasonography (cT) and Pathology (pT) in a Multicenter Series of Breast Metaplastic Carcinoma Patients.
UNLABELLED
Metaplastic breast cancer (BC-Mp) presents diagnostic and therapeutic complexities, with scant literature available. Correct assessment of tumor size by ultrasound (US) and full-field digital mammography (FFDM) is crucial for treatment planning.
METHODS
A retrospective cohort study was conducted on databases encompassing records of BC patients (2012-2022) at the National Research Institutes of Oncology (Warsaw, Gliwice and Krakow Branches). Inclusion criteria comprised confirmed diagnosis in postsurgical pathology reports with tumor size details (pT) and availability of tumor size from preoperative US and/or FFDM. Patients subjected to neoadjuvant systemic treatment were excluded. Demographics and clinicopathological data were gathered.
RESULTS
Forty-five females were included. A total of 86.7% were triple-negative. The median age was 66 years (range: 33-89). The median pT was 41.63 mm (6-130), and eight patients were N-positive. Median tumor size assessed by US and FFDM was 31.81 mm (9-100) and 34.14 mm (0-120), respectively. Neither technique demonstrated superiority ( > 0.05), but they both underestimated the tumor size ( = 0.002 for US and = 0.018 for FFDM). Smaller tumors (pT1-2) were statistically more accurately assessed by any technique ( < 0.001). Only pT correlated with overall survival.
CONCLUSION
The risk of underestimation in tumor size assessment with US and FFDM has to be taken into consideration while planning surgical procedures for BC-Mp.
PubMed: 38201615
DOI: 10.3390/cancers16010188 -
Cureus Dec 2023Metaplastic breast carcinoma represents a diverse category of invasive breast cancers distinguished by the transformation of neoplastic epithelial cells into squamous...
Metaplastic breast carcinoma represents a diverse category of invasive breast cancers distinguished by the transformation of neoplastic epithelial cells into squamous cells or cells with mesenchymal appearance. Matrix-producing breast carcinoma is a variant of metaplastic breast carcinoma, an exceedingly uncommon malignancy accounting for less than 1% of all breast tumors. The precise origin of this tumor remains elusive; some molecular research points to a potential derivation from myoepithelial cells, while other studies emphasize the possibility of neoplastic transformation originating from multipotent stem cells. We report a case of recurrent matrix-producing breast carcinoma. The patient presented with a breast mass. The tumor cells displayed a lack of reactivity for estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2), and exhibited a Ki-67 proliferation index of approximately 40%. Additionally, the tumor cells demonstrated significant reactivity for cytokeratins and S100. The patient underwent surgery, radiation, and chemotherapy and then developed metastasis to the lower lobe of her left lung, seven years after primary diagnosis. Diagnosis of metastasis was confirmed by comparing the metastasis to the primary tumor and staining with a panel of immunohistochemical stains. The patient is currently undergoing chemotherapy and immunotherapy.
PubMed: 38196420
DOI: 10.7759/cureus.50265 -
Cureus Nov 2023A 64-year-old woman presented to our institution with a palpable and painful left breast mass. She denied any other breast symptoms. Subsequent imaging classified it as...
A 64-year-old woman presented to our institution with a palpable and painful left breast mass. She denied any other breast symptoms. Subsequent imaging classified it as a US Breast Imaging-Reporting and Data System (BI-RADS) 4A lesion. A core needle biopsy was performed showing atypical proliferating fragments of squamous epithelium suspicious for malignant neoplasm. An excisional biopsy was recommended. Gross examination showed a well-circumscribed pink soft mass measuring 2.0 x 1.4 x 1.3 cm. The entire lesion was submitted for histologic evaluation, demonstrating a neoplasm with branching stroma and exuberant squamous differentiation. The lesion exhibited obvious cytologic features of malignancy like mitotic figures, prominent nucleoli, irregular nuclei, and multinucleation. Collagen IV stain ruled out invasion. The lesion was finally classified as squamous cell carcinoma (SCC) in situ with the configuration of an intraductal papilloma. The possibility of metastatic disease was suggested. A PET scan was negative, and no other foci of disease were found in the remainder of the specimen. The mass was also independent of nipple and skin. Based on the architectural features, we believe that this is a case of an intraductal papilloma that underwent complete squamous metaplasia with no residual adenomyoepithelial components and transformation into an SCC in situ demonstrated by stains. Papillomas can undergo reactive metaplastic changes, usually benign and in small foci. This is the first reported case of exuberant squamous epithelium that transformed into carcinoma in situ with papillary architecture in the breast.
PubMed: 38146557
DOI: 10.7759/cureus.49382 -
Cancer Innovation Oct 2023Metaplastic breast carcinoma (MBC) is a rare breast cancer subtype; most cases are triple-negative breast cancers (TNBCs) and are poorly responsive to conventional...
BACKGROUND
Metaplastic breast carcinoma (MBC) is a rare breast cancer subtype; most cases are triple-negative breast cancers (TNBCs) and are poorly responsive to conventional systemic therapy. Few potential diagnostic and prognostic markers for distinguishing between metaplastic TNBC and nonmetaplastic TNBC have been discovered. We performed bioinformatic analysis to explore the underlying mechanism by which metaplastic TNBC differs from nonmetaplastic TNBC and provides potential pathogenic genes of metaplastic TNBC.
METHODS
Differentially expressed genes (DEGs) in metaplastic tumors and nonmetaplastic tumors from TNBC patients were screened using GSE165407. The GSE76275 data set and The Cancer Genome Atlas (TCGA) database were used to screen DEGs in TNBC and non-TNBC. Metascape and DAVID were used for the Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis and Gene Ontology (GO) analysis of DEGs. Online databases, including UALCAN, GEPIA, HPA, Breast Cancer Gene-Expression Miner, and quantitative PCR and western blot, were used to examine messenger RNA and protein expression in breast cancer. Analysis of ‑associated genes was performed with TCGA data, and the LinkedOmics database was used to detect the genes co-expressed with . STRING (Search Tool for the Retrieval of Interacting Genes) and Cytoscape were used to screen for hub genes. Kaplan‑Meier plotter was used for survival analysis.
RESULTS
was identified among the DEGs in nonmetaplastic TNBC and metaplastic TNBC. The gene was overexpressed in nonmetaplastic TNBC but downregulated in metaplastic TNBC. KEGG and GO analyses revealed that epithelial-to-mesenchymal transition was a pathogenic mechanism in metaplastic TNBC and an important pathway by which and its associated genes and influence metaplastic TNBC progression. Prognosis analysis showed that only low expression of in metaplastic TNBC had clinical significance.
CONCLUSION
Our research indicated that may be a pivotal molecule with a key role in the mechanism of tumorigenesis in metaplastic TNBC.
PubMed: 38090381
DOI: 10.1002/cai2.96 -
Clinical Case Reports Dec 2023A rare form of invasive breast carcinoma, NOS, also known as matrix-producing carcinoma made up of epithelial and mesenchymal components. Usually, they are triple...
KEY CLINICAL MESSAGE
A rare form of invasive breast carcinoma, NOS, also known as matrix-producing carcinoma made up of epithelial and mesenchymal components. Usually, they are triple negative and clinically aggressive and respond poorly to neoadjuvant systemic therapy.
ABSTRACT
Metaplastic breast carcinomas (MBCs) are ductal carcinomas that undergo metaplasia to form nonglandular growth patterns. They are extremely rare, constituting less than 1% of all invasive breast carcinomas. Matrix-producing carcinoma is an exceedingly rare form of MBC distinguished by a ductal carcinomatous component with direct transition to areas of cartilaginous or osseous differentiation without the presence of an intervening spindle cell element. MBCs are clinically aggressive, but matrix-producing subtypes have a relatively better prognosis. The tumors are usually triple negative. Therefore, surgery and chemotherapy are the main therapeutic approaches. Our report describes this unique form of MBC with prominent osseous differentiation in a 33-year-old female patient. Its distinct histological features and peculiar clinical behavior necessitate a thorough understanding of this one-of-a-kind disease entity.
PubMed: 38089485
DOI: 10.1002/ccr3.8320 -
Asian Journal of Surgery Mar 2024
Topics: Female; Humans; Lactation; Breast Neoplasms; Carcinoma; Carcinoma, Ductal, Breast
PubMed: 38071093
DOI: 10.1016/j.asjsur.2023.11.151 -
Cancers Nov 2023Thymic epithelial tumors (TET) are rare and large molecular studies are therefore difficult to perform. However, institutional case series and rare multi-institutional... (Review)
Review
Thymic epithelial tumors (TET) are rare and large molecular studies are therefore difficult to perform. However, institutional case series and rare multi-institutional studies have identified a number of interesting molecular aberrations in TET, including gene fusions in a subset of these tumors. These gene fusions can aid in the diagnosis, shed light on the pathogenesis of a subset of tumors, and potentially may provide patients with the opportunity to undergo targeted therapy or participation in clinical trials. Gene fusions that have been identified in TET include rearrangements in 50% to 56% of mucoepidermoid carcinomas (), 77% to 100% of metaplastic thymomas (), and 6% of B2 and B3 thymomas (); rearrangements in NUT carcinomas (most commonly ); rearrangement in hyalinizing clear cell carcinoma (); and rearrangement in a thymoma (). This review focuses on TET in which these fusion genes have been identified, their morphologic, immunophenotypic, and clinical characteristics and potential clinical implications of the fusion genes. Larger, multi-institutional, global studies are needed to further elucidate the molecular characteristics of these rare but sometimes very aggressive tumors in order to optimize patient management, provide patients with the opportunity to undergo targeted therapy and participate in clinical trials, and to elucidate the pathogenesis of these tumors.
PubMed: 38067300
DOI: 10.3390/cancers15235596 -
The American Journal of Case Reports Dec 2023BACKGROUND Breast squamous cell carcinoma (SCC) is a subtype of metaplastic breast carcinoma (MBC), which is a rare malignancy and accounts for 0.1% of all invasive...
BACKGROUND Breast squamous cell carcinoma (SCC) is a subtype of metaplastic breast carcinoma (MBC), which is a rare malignancy and accounts for 0.1% of all invasive breast carcinomas. Guidelines on definitive management and treatment of breast SCC are not well established, given its rarity and diverse immunohistochemistry (IHC) profile, and lack of clinical data. Most cases of breast SCC are triple-negative breast cancer - negative for estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). This case report outlines the clinicopathological profile of a pure breast SCC case with a rare IHC profile; HER2 and ER positive. CASE REPORT A 41-year-old woman presented with a right breast mass that had been growing for 2 months. Biopsy confirmed breast SCC, a rare malignancy with IHC profile as follows: HER2 overexpression, ER positive, and PR negative. She underwent neoadjuvant chemotherapy for 3 months followed by right mastectomy with axillary clearance, adjuvant radiotherapy, and oral tamoxifen therapy. Unfortunately, she did not receive anti-HER2 therapy. She developed early locoregional recurrence at 2 months postoperatively, which was treated with excision of the right chest wall and transverse rectus abdominis musculocutaneous (TRAM) flap. She developed liver and lung metastasis and succumbed to her disease at 15 months post-diagnosis. CONCLUSIONS Breast SCC is a rare and aggressive tumor with heterogeneous clinicopathological features. Available guidelines do not outline the definitive treatment for breast SCC, given its rarity and heterogenous IHC profile, leading to a general lack of clinical data. Hence, due to the challenges in managing this rare condition, treatment modalities need to be individualized.
Topics: Female; Humans; Adult; Breast Neoplasms; Receptors, Estrogen; Receptors, Progesterone; Mastectomy; Carcinoma, Squamous Cell; Triple Negative Breast Neoplasms
PubMed: 38048289
DOI: 10.12659/AJCR.941448 -
Case Reports in Oncology 2023Metaplastic breast carcinoma (MBC) is a rare histologic subtype of breast carcinoma, which is usually negative for estrogen receptor, progesterone receptor, and HER2....
INTRODUCTION
Metaplastic breast carcinoma (MBC) is a rare histologic subtype of breast carcinoma, which is usually negative for estrogen receptor, progesterone receptor, and HER2. HER2-positive MBC is therefore extremely rare. Most MBCs have poor response to chemotherapy. HER2-targeted neoadjuvant chemotherapy (NAC) is widely performed and has high efficacy in treating HER2-positive breast cancer. We report an atypical case of HER2-positive breast cancer that had poor response to NAC and was diagnosed with MBC after the surgery.
CASE PRESENTATION
A 73-year-old woman noticed a mass in her right breast and visited our hospital. The mass was diagnosed as hormone receptor-negative, HER2-positive invasive ductal carcinoma, T2N0M0 stage IIA. She received HER2-targeted NAC comprising trastuzumab + pertuzumab + docetaxel. Despite three courses, we observed disease progression. The next NAC regimen was composed of two courses of epirubicin + cyclophosphamide, but the cancer continued to grow. She stopped receiving NAC and underwent a unilateral mastectomy and sentinel lymph node biopsy. Although the preoperative pathological result of core needle biopsy specimen showed invasive ductal carcinoma, the postoperative pathological result of the surgical specimen was MBC.
CONCLUSION
In this case, when the patient had undergone three courses of trastuzumab + pertuzumab + docetaxel, it would have been appropriate to review the result of the core needle biopsy with pathologists or to perform vacuum-assisted breast biopsy. This case suggests the importance of considering the possibility of special histologic subtypes such as MBC when a tumor with the diagnosis of invasive ductal carcinoma is resistant to NAC.
PubMed: 38028581
DOI: 10.1159/000534847