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Applied Immunohistochemistry & Molecular Morphology
Journal Prestige (SJR): 0.765  Citation Impact (citeScore): 1 Number of Followers: 13  Hybrid journal (It can contain Open Access articles)ISSN (Print) 1062-3345 - ISSN (Online) 1533-4058 Published by LWW Wolters Kluwer  [330 journals]
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- Comparison of Confirmed Cytology Smears and Cell Blocks for Epidermal
Growth Factor Receptor Mutation Testing in Non–Small Cell Lung Cancer-
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Authors: Liu; Chia-Hsing; Chang, Shu-Jyuan; Tsai, Min-Jan; Yang, Sheau-Fang
Abstract:
Introduction: Various cytologic specimens have been used to diagnose epidermal growth factor receptor (EGFR) gene mutations in non–small cell lung cancer (NSCLC). However, insufficient samples and lengthy DNA extraction procedures have led to inconsistent diagnostic results. To reduce manipulation losses and improve DNA extraction quality, we provide an improved procedure for DNA extraction from smear samples containing rare tumor cells in NSCLC.Patients and Methods: The effectiveness of this new method for DNA extraction and diagnosis was validated in 8 patients with pleural effusion smears and formalin-fixed paraffin-embedded cell blocks, and another with 2 smears. Smear samples with
PubDate: Mon, 09 Oct 2023 00:00:00 GMT-
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- From Death to Life/Back to the Future: Detailed Premorbid Clinical and
Family History Can Save Lives and Address the Final Diagnosis in Sudden
Unexplained Deaths With Negative Autopsy-
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Authors: Turkgenc; Burcu; Baydar, Cetin L.; Deniz, Idris; Akcay, Arzu; Ergoren, Mahmut Cerkez; Sag, Sebnem Ozemrı; Yakicier, Mustafa C.; Temel, Sehime G.
Abstract:
Sudden cardiac death is a sudden, unexpected death developed by one of the many different causes of cardiac arrest that occur within 1 hour of the onset of new symptoms. Sudden unexplained death (SUD) comprises a normal heart at postmortem examination and negative toxicological analysis. SUD often arises from cardiac genetic disease, particularly channelopathies. Channelopathies, or inherited arrhythmia syndromes, are a group of disorders characterized by an increased risk of sudden cardiac death, abnormal cardiac electrical function, and, typically, a structurally normal heart. They share an underlying genetic etiology where disease-causing genetic variants may lead to the absence or dysfunction of proteins involved in the generation and propagation of the cardiac action potential. Our study aimed to evaluate the importance of next-generation sequencing in the postmortem investigations of SUD cases. In this study, 5 forensic SUD cases were investigated for inherited cardiac disorders. We screened a total of 68 cardiac genes for the sibling of case 1, as well as case 2, and 51 genes for cases 3, 4, and 5. Of the 12 variants identified, 2 likely pathogenic variants (16.7%) were the TMEM43_ c.1000+2T>C splice site mutation and the SCN5A_ p.W703X nonsense mutation. The remaining 10 variants of uncertain significance were detected in the TRPM4, RANGRF, AKAP9, KCND3, KCNE1, DSG2, CASQ1, and SNTA1 genes. Irrespective of genetic testing, all SUD families require detailed clinical testing to identify relatives who may be at risk. Molecular autopsy and detailed premorbid clinical and family histories can survive family members of SUD cases.
PubDate: Thu, 05 Oct 2023 00:00:00 GMT-
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- High TEAD4 Expression is Associated With Aggressive Clear Cell Renal Cell
Carcinoma, Regardless of YAP1 Expression-
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Authors: Park; Min A.; Lee, Yeong Heon; Gu, Mi-Jin
Abstract:
Yes-associated protein 1 (YAP1) and transcriptional coactivator TEA domain transcription factor 4 (TEAD4) are the main effectors of the Hippo signaling pathway. Deregulation of the Hippo signaling pathway significantly impacts tumorigenesis and tumor progression. We evaluated the mRNA expression level of YAP1 and TEAD4 using the Gene Expression Profiling Interactive Analysis database and investigated the roles of YAP1 and TEAD4 in 349 surgically resected clear cell renal cell carcinoma (CCRCC) samples through immunohistochemical analysis. High YAP1 and TEAD4 expression were observed in 57 (16.3%) and 131 (37.5%) cases, respectively. High YAP1 expression was associated with a low nuclear grade only. High TEAD4 expression was significantly associated with large tumor size, high nuclear grade, lymphovascular invasion, advanced pT classification, advanced clinical stage, sarcomatous differentiation, and metastasis. CCRCC with YAP1-low/TEAD4-high expression was significantly associated with aggressive clinicopathological variables and poor outcomes. For CCRCC, higher tumor stage, sarcomatous differentiation, and metastasis were the independent prognostic factors for overall survival (OS) and disease-free survival (DFS). High TEAD4 expression was significantly associated with short OS and DFS but was not an independent prognostic factor. High TEAD4 and YAP1-low/TEAD4-high expression significantly correlated with adverse clinicopathological factors and worse OS and DFS in patients with CCRCC. YAP1 expression was not significantly associated with clinicopathological factors or patient survival. Therefore, TEAD4 plays a critical role in CCRCC tumor progression independent of YAP1 and may be a potential biomarker and therapeutic target for CCRCC.
PubDate: Mon, 02 Oct 2023 00:00:00 GMT-
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- GATA3 Expression in HPV-associated and HPV-independent Vulvar Squamous
Cell Carcinomas: Patterns of Expression and Prognostic Significance-
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Authors: Vaziri Fard; Elmira; Zare, Somaye Y.; Fadare, Oluwole
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Substantial diminution or loss of GATA3 expression is reportedly frequent in human papillomavirus–independent (HPVI), p53-mediated vulvar intraepithelial neoplasia. Herein, we study GATA3 expression in vulvar squamous cell carcinoma (VSCC) and assess its clinicopathologic significance. Eighty-six cases of VSCC diagnosed at a single institution were immunohistochemically assessed for their expression of GATA3, as well as any possible relationships with patient outcomes and other clinicopathologic parameters. Given that GATA3 expression pattern in the normal vulvar epidermis is typically strong basal staining with a uniform upward extension until at least the mid epidermal layers, VSCCs were scored using a previously reported tripattern system: pattern 0 (>75% tumor staining), pattern 1 (25% to 75% staining), and pattern 2 (
PubDate: Mon, 02 Oct 2023 00:00:00 GMT-
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- HepPar1 and GATA-3 Expression in Neuroendocrine Neoplasms: A Potential
Trap for Pathologic Diagnosis-
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Authors: Xu; Lin; Yu, Guohua; Jiang, Lei; Song, Xiao; Qu, Guimei; Luo, Jie; Cai, Li
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Objective: To investigate the expression and clinical significance of HepPar1 and GATA-3 in neuroendocrine neoplasms (NENs).Materials and methods: The expression of HepPar1 and GATA-3 in 144 cases of NENs was detected using immunohistochemistry, and the relevant literature was reviewed.Results: HepPar1 was localized in the cytoplasm, and the positive rate of HepPar1 was 6.25% (9/144) in 144 NENs, 9 of which were derived from gastrointestinal and pancreatic NENs, including 4 cases of neuroendocrine tumor, grade 1 (NET G1), 4 cases of NET G2, and 1 case of NET G3. GATA-3 was localized in the nucleus; the positive rate of GATA-3 was 7.62% (11/144), which was derived from 5 cases of gastrointestinal and pancreatic NENs, 2 cases of the lung, 2 cases of the liver, 1 case of the testis, and 1 case of the mediastinum. HepPar1 and GATA-3 were coexpressed in 4 cases: 2 cases of gastric NET G1, 1 case of gastric NET G2, and 1 case of pancreatic NET G3 with liver metastasis.Conclusions: HepPar1 and GATA-3 can be expressed in NENs, which are potential traps for the pathologic and differential diagnosis of tumors.
PubDate: Tue, 26 Sep 2023 00:00:00 GMT-
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- Prognostic Impact of FSTL3, ADAM12, and FAT4 in Patients of Colon Cancer:
Clinicopathologic Study-
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Authors: Ibrahim; Hanaa M.; Abdelrahman, Aziza E.; Elwan, Amira; Bakry, Adel; Fahmy, Moamna M.; Abdelhamid, Mohamed I.; Abdelwanis, Abdelfatah H.; Fouad, Enas M.
Abstract:
There is a cellular crosstalk between Wnt/β-catenin and Hippo/Yes-related protein 1 signaling paths in colon cancer (CC) which promotes EMT processes that mediate the metastatic progression of CC. We aimed to evaluate follistatin-like 3 (FSTL3), ADAM12, and FAT4 expressions in CC. A statistical analysis was done to establish how disease-free survival, overall survival (OS), and relapse all performed a prognostic role. High FSTL3 was detected in 68% of CC and significantly related to left-sided tumors (P = 0.002) and the advanced tumor features, such as metastasis (P = 0.010), pT (P = 0.006), high grade (P = 0.005), lymph node contribution (P = 0.013), and advanced stage (P = 0.003). Positive ADAM12 expression was observed in 60% and significantly related to left-sided tumors (P = 0.001) and significantly common in high grade (P = 0.028), lymph node involvement (P < 0.001), and advanced stage (P = 0.004). Low FAT4 expression was recognized in 76% and linked with the right-sided tumors (P = 0.036). FAT4 expression was contrariwise linked with CC grade (P < 0.001). Furthermore, FAT4 expression was inversely correlated with lymph node involvement (P = 0.002), metastasis (P = 0.046), and advanced stage (P = 0.002). During the follow-up, 14 cases were relapsed and positively associated with high FSTL3 expression (P = 0.001) and ADAM12 expression (P < 0.001), but negatively linked with FAT4 expression (P = 0.003). Shorter disease-free survival was substantially correlated with positive ADAM12, extreme FSTL3, and low FAT4 expression (P < 0.001, P = 0.002, P = 0.003, consecutively). Moreover, Kaplan-Meier curves demonstrated a significant correlation between shorter OS with extreme FSTL3, positive ADAM12, and low FAT4 (P = 0.004,
PubDate: Tue, 26 Sep 2023 00:00:00 GMT-
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- The Role of Morphology in Predicting Fumarate Hydratase–deficient
Uterine Leiomyomas in Young Women-
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Authors: Bayram; Aysel; Bagbudar, Sidar; Sozen, Hamdullah; Onder, Semen; Yavuz, Ekrem
Abstract:
Hereditary leiomyomatosis and renal cell carcinoma is caused by germline mutations in the fumarate hydratase (FH) gene and is associated with an increased incidence of leiomyomas and a potentially aggressive variant of renal cell carcinoma. Pathologic evaluation of uterine leiomyoma can provide an opportunity for early recognition of the syndrome. We reviewed all archived slides of the cases to identify the characteristic morphologic features described for FH-deficient leiomyomas. We performed immunohistochemistry on whole sections of patients with uterine leiomyoma to evaluate for both FH and 2-succinocysteine (2SC) expression. Of the 106 cases, 19 showed the characteristic eosinophilic nucleoli with perinuclear halos, and 24 revealed a characteristic eosinophilic cytoplasmic inclusion consisting of pink globules present within the cytoplasm. Both of these morphologic findings were present together in 15 cases, and hemangiopericytomatous vessels were detected in 23 cases. The loss of FH protein expression was detected in 14 out of 106 cases (13%), and 13 out of 106 cases (12%) were positive for 2SC. We detected 10 cases with both 2SC-positive and FH expression loss. The presence of eosinophilic nucleoli with perinuclear halos and eosinophilic cytoplasmic inclusion was associated with both loss of FH protein expression and 2SC positivity (P < 0.001). These findings underscore the importance of hematoxylin and eosin–based predictive morphology in FH-deficient uterine leiomyomas. Therefore, morphologic assessment of uterine leiomyomas for features of FH deficiency can serve as a screening tool for hereditary leiomyomatosis and renal cell carcinoma syndrome, allowing patients to be divided according to their hereditary risk assessment.
PubDate: Mon, 25 Sep 2023 00:00:00 GMT-
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- Nonossifying Fibroma Involving Epiphysis of Long Bone—Case Report
and Review of the Literature-
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Authors: Serinelli; Serenella; Enniss, Brent A.; Damron, Timothy A.; Stock, Harlan; de la Roza, Gustavo L.
Abstract:
Nonossifying fibroma (NOF) is a common benign bone neoplasm and is usually observed in the first 2 decades of life. Most NOFs occur in the metaphysis of long bones of the lower extremities and migrate toward the diaphysis during skeletal maturation. Epiphyseal involvement by NOF has been rarely reported, with only one case found in the English literature. The authors report the second case of NOF involving the epiphysis of a long bone, the proximal tibia of a 21-year-old woman. Clinicians and pathologists should be aware of the rare possibility of epiphyseal involvement of long bones by this condition. Pathologists should select appropriate immunohistochemistry markers to rule out alternative diagnoses.
PubDate: Mon, 25 Sep 2023 00:00:00 GMT-
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- Histopathologic Changes in Congenital Corneal Stromal Dystrophy: Report of
4 Cases in 2 Families-
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Authors: Colino Gallardo; Ana M.; De la Torre Serrano, Montserrat; Alarcón García, Lorenzo; Casado Fariñas, Isabel; De Pablo Velasco, David; Martínez-Useros, Javier; Barderas, Rodrigo; Fernández-Aceñero, María J.
Abstract:
Corneal dystrophies are hereditary diseases affecting the corneal tissue; they are bilateral, symmetrical and unrelated to environmental or systemic conditions. Congenital corneal stromal dystrophy is a very rare autosomal dominant dystrophy that is caused by a mutation in the DCN gene that encodes decorin (a proteoglycan of the extracellular matrix). We herein report 4 cases of congenital stromal corneal dystrophy in 2 families, highlighting the previously undescribed histopathologic features, the possible differential diagnosis of this entity and the key role played by decorin staining in its diagnosis.
PubDate: Wed, 20 Sep 2023 00:00:00 GMT-
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