{"title":"Clinicopathologic Characterization of Double PIK3CA Mutated Advanced Breast Cancer: A Retrospective Cohort Study from a Single Institution","authors":"Zhan H","doi":"10.23880/cprj-16000155","DOIUrl":"https://doi.org/10.23880/cprj-16000155","url":null,"abstract":"Objectives: We aimed to characterize the clinicopathologic and molecular features of double PIK3CA mutated advanced breast cancer in a retrospective cohort study. Methods: This retrospective study included 196 advanced breast cancer patients who had the Oncomine next generation sequencing analysis. The clinicopathologic parameters were recorded for each individuals including age, tumor type, grade, ER, PR, HER2, and recurrence free survival. Results: PIK3CA mutations were detected in 77.5% (152/196) of advanced breast cancer patients, 129 (84.8%) of which contained single mutations, 20 (13.1%) of which contained double mutations, and 3 (2%) of which contained triple mutations. Double PIK3CA mutated tumors were mostly seen in postmenopausal women, had lower combined histologic grade, and were enriched in hormone receptor positive human epidermal growth factor receptor negative (HR+/HER2-) disease. Double PIK3CA mutations were more frequently associated with concurrent mutations of ESR1 (p=0.017) and ARID1A (p=0.054) compared to single PIK3CA mutations. No significant progression free survival differences were observed between PIK3CA mutated and wild-type groups and between double and single PIK3CA mutated groups when applied to all patients or HR+/ HER2- patients. Conclusion: Double PIK3CA mutated advanced breast cancer have similar clinicopathologic features as single mutated ones but demonstrate unique molecular features.","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135550765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cyto-Architectural Complexity of Dyshormonogenic Goitre can Closely Mimic a Thyroid Follicular Malignancy: A Case Report and Review of the Literature to Avoid Diagnostic Pitfall","authors":"Nishat Afroz","doi":"10.23880/cprj-16000160","DOIUrl":"https://doi.org/10.23880/cprj-16000160","url":null,"abstract":"A 13-year-old male child presented in the OPD with a midline 5x4cm thyroid swelling of 2 years duration with the chief complaint of difficulty in breathing. He also had growth and mental retardation since 3 years of age. His thyroid profile records revealed a severe degree of hypothyroidism and he was on thyroxine supplement since then. He underwent a right hemithyroidectomy for the right-sided nodular goitre causing on-and-off dyspnea. The gross specimen measured 5x4x3cm, which on cut section showed partially encapsulated multi-nodular solid areas. Microscopy yielded marked architectural complexity and prominent cellular and nuclear pleomorphism that mimicked a thyroid malignancy; for eg., a poorly differentiated papillary or follicular carcinoma. However, a thorough assessment of a range of histo-morphological features in the context of clinical history clinched the diagnosis of dyshormonogenetic goitre. One year postoperatively the patient is doing well on Thyroxine supplement. This case report reviews the literature about this rare benign entity of dyshormonogenetic goitre which closely mimics thyroid malignancy, notably a follicular malignancy on microscopy owing to its cytoarchitectural complexity and nuclear atypia. Hence, knowledge of its clinical presentation, gross and diverse microscopic features is extremely important to avoid misdiagnosis and thereby clinical management.","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135551007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparative Analysis between Absolute Neutrophil Count and Absolute Monocyte Count as a Predictor of Haematopoietic Recovery in Patients with Acute Lymphoblastic Leukaemia","authors":"Yesmin MS","doi":"10.23880/cprj-16000159","DOIUrl":"https://doi.org/10.23880/cprj-16000159","url":null,"abstract":"Objectives: This study was aimed to find out the comparison between absolute neutrophil count and absolute monocyte count for haematopoietic recovery in acute lymphoblastic leukaemia (ALL) patients. Methods: In this study, a total of 50 patients of acute lymphoblastic leukaemia, aged between 8 months to 15 years were studied prospectively. Results: In the initial treatment phase (induction of remission phase), regularly increasing trends were seen in absolute neutrophil counts (ANC) prior to recovery of absolute monocyte counts (AMC). Of all the parameters, ANC recovered 1 day (≥0.5 x 109 /l) prior to recovery of AMC above (≥0.1 x 109 /l). Conclusion: ANC can be considered as an early predictor of haematopoietic recovery over AMC. These parameters can be used in conjunction with clinical conditions to decide about early discharge of leukaemia patients especially in developing countries where prolonged stay can result in hospital acquired infections.","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"99 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135549384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Performance of the Thyroid Gland is Affected by the Intellectual and Psychological Pressures that College Students Endure During Exam Time","authors":"Majid M Mahmood","doi":"10.23880/cprj-16000162","DOIUrl":"https://doi.org/10.23880/cprj-16000162","url":null,"abstract":"The thyroid gland is affected by many factors, such as age, gender, and ethnicity. The gland is also influenced by metabolism, stress, and psychological state. In this clinical scenario, establishing a reference period for TSH, T3, and T4 is critical for the diagnosis of thyroid functional disorders before and after screening. The aim of this study is to assess the effect of mental stress on the levels of TSH, T3, and T4 before and after the exam. The study was conducted from December until the end of February 2022 at the Middle Technical College, University of Baghdad. 45 healthy young students, ranging in age from 19 to 23 years, were included in this study. The results found a significant difference between T4 levels in pre- and post-exam in males when compared with females, and there was also a difference between the levels of T3 and TSH in pre- and post-exam. Conclusion: Mental stress affects thyroid hormones by affecting the central regulation of TSH levels.","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135550748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Rare Torsion Case of Polycystic Ovarian Syndrome: A Natural Course with Laparoscopic, Cytological and Pathological Findings","authors":"Kenji Niwa","doi":"10.23880/cprj-16000157","DOIUrl":"https://doi.org/10.23880/cprj-16000157","url":null,"abstract":"Polycystic ovary (PCO) syndrome cases with adnexal torsion in a natural cycle without ovarian induction are rare, and many torsion cases in PCOs involve pelvic masses, such as uterine fibroids. A 37-year-old woman, gravida two para two, came in an emergency because of lower abdominal pain for 2 or 3 days. PCO was followed in a previous hospital. At a visit in her Douglas pouch, a 7.3 x 4.5 cm mass that was consistent with the point of tenderness was detected by ultrasonography and magnetic resonance images. The patient underwent a semi-emergent laparoscopic surgery for a diagnosis of torsion of the left adnexa. At an abdominal exploration, the left ovary was swollen to approximate 7 cm in size and twisted 360°clockwise. The intraoperative imprint cytology showed the presence of fibrous cells alone, thus the malignancy denied. Histologically, fibrously thickened cortex and multiple follicular cysts due to atretic follicles were found, compatible with PCO. As the patient did not desire to have children and less likely to twist the right ovary, she wanted having low dose pills.","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135551010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ectopic Pregnancy in the Cervix-A Case Report with Review of Literature","authors":"Pranjal Shah","doi":"10.23880/cprj-16000161","DOIUrl":"https://doi.org/10.23880/cprj-16000161","url":null,"abstract":"Cervical ectopic pregnancy is a rare type of ectopic pregnancy with an evidence of less than 0.1% of all ectopic pregnancies. It is associated with high morbidity and mortality and may lead to massive hemorrhage, which may require hysterectomy to save the patient. We report a case of ectopic pregnancy in cervix in a 27-year-old female patient with a previous history of lower segment caesarean section (LSCS). The current pregnancy was complicated with a massive hemorrhage, hence leading to hysterectomy","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135549394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Serpentine Aneurysm of the Placenta with Good Fetal Outcome","authors":"Leila Haghi","doi":"10.23880/cprj-16000152","DOIUrl":"https://doi.org/10.23880/cprj-16000152","url":null,"abstract":"We report an exceedingly rare case of placental serpentine aneurysm. A 21-year-old gravida 3 para 1-0-1-1 with the history of a prior C-section presented at 35 weeks of gestation with the complaint of decreasing or absent fetal movements, previously there were no complications during her pregnancy. She underwent an emergent C-section due to non-reassuring fetal heart tones and delivered a female infant weighing 2145 grams without malformation and Apgar scores of 6 and 8 at 1 and 5 minutes. The premature neonate was admitted to the neonatal intensive care unit (NICU) and was discharged a few days later in good health and has done well since. The placenta weighed 768 grams with a three-vessel umbilical cord. The fetal surface was blue-gray and had multiple markedly dilated tortuous vessels (ranging in diameter from 0.5-1.4 cm) which were attached to a single area on the fetal surface. A Verhoeff-Van Gieson stain was negative for elastic fibers. The placental disc had a 7.1 cm peripheral infarct involving approximately 10% of the disc. There have been 3 cases reported previously in which two were associated with intrauterine growth restriction and one with molar transformation. In conclusion, placental serpentine aneurysm is a rare finding and unlike prior cases was associated with prematurity, decreased fetal movements, and nonreassuring fetal heart tones; a good outcome occurred because of prompt medical intervention.","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135551011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A novel NGS-based diagnostic algorithm for classifying multifocal lung adenocarcinomas in pN0M0 patients","authors":"Xin Zhang, Xiaoxi Fan, Changbo Sun, Liang Wang, Yuan Miao, Liming Wang, Peng Yang, Yang Xu, Xue Ren, Xue Wu, Shun Xu","doi":"10.1002/cjp2.306","DOIUrl":"10.1002/cjp2.306","url":null,"abstract":"<p>The classification of multifocal lung adenocarcinomas (MLAs), including multiple primary lung adenocarcinomas (MPLAs) and intrapulmonary metastases (IPMs), has great clinical significance in staging and treatment determination. However, the application of molecular approaches in pN0M0 MLA diagnosis has not been well investigated. Here, we performed next-generation sequencing (NGS) analysis in 45 pN0M0 MLA patients (101 lesion pairs) who were initially diagnosed as having MPLA by comprehensive histologic assessment (CHA). Five additional patients with intrathoracic metastases were used as positive controls, while 197 patients with unifocal lung adenocarcinomas (425 random lesion pairs) were used as negative controls. By utilizing a predefined NGS criterion, all IPMs in the positive control group could be accurately classified, whereas 13 lesion pairs (3.1%) in the negative control cohort were misdiagnosed as IPMs. Additionally, 14 IPM lesion pairs were diagnosed in the study group, with at least 7 misdiagnoses. We thus developed a refined algorithm, incorporating both NGS and histologic results, that could correctly diagnose all the known MPLAs and IPMs. In particular, all IPMs identified by the refined algorithm were diagnosed to be IPMs or suspected IPMs by CHA reassessment. The refined algorithm-diagnosed MPLAs patients also had significantly better progression-free survival than the refined algorithm-diagnosed IPMs (<i>p</i> < 0.0001), which is superior to conventional NGS or CHA diagnoses. Overall, we developed an NGS-based algorithm that could accurately distinguish IPMs from MPLAs in MLA patients. Our results demonstrate a promising clinical utility of NGS to complement traditional CHA-based MLA diagnosis and help determine patient staging and treatment.</p>","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"9 2","pages":"108-120"},"PeriodicalIF":4.1,"publicationDate":"2022-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/81/CJP2-9-108.PMC9896159.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10730314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuehua Li, Chengjiang Wei, Wei Wang, Qingfeng Li, Zhi-Chao Wang
{"title":"Tropomyosin receptor kinase B (TrkB) signalling: targeted therapy in neurogenic tumours","authors":"Yuehua Li, Chengjiang Wei, Wei Wang, Qingfeng Li, Zhi-Chao Wang","doi":"10.1002/cjp2.307","DOIUrl":"10.1002/cjp2.307","url":null,"abstract":"<p>Tropomyosin receptor kinase B (TrkB), a transmembrane receptor protein, has been found to play a pivotal role in neural development. This protein is encoded by the neurotrophic receptor tyrosine kinase 2 (<i>NTRK2</i>) gene, and its abnormal activation caused by <i>NTRK2</i> overexpression or fusion can contribute to tumour initiation, progression, and resistance to therapeutics in multiple types of neurogenic tumours. Targeted therapies for this mechanism have been designed and developed in preclinical and clinical studies, including selective TrkB inhibitors and pan-TRK inhibitors. This review describes the gene structure, biological function, abnormal TrkB activation mechanism, and current-related targeted therapies in neurogenic tumours.</p>","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"9 2","pages":"89-99"},"PeriodicalIF":4.1,"publicationDate":"2022-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/61/41/CJP2-9-89.PMC9896160.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10731137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Magdalena Skoworonska, Annika Blank, Irene Centeno, Caroline Hammer, Aurel Perren, Inti Zlobec, Tilman T Rau
{"title":"Real-life data from standardized preanalytical coding (SPREC) in tissue biobanking and its dual use for sample characterization and process optimization","authors":"Magdalena Skoworonska, Annika Blank, Irene Centeno, Caroline Hammer, Aurel Perren, Inti Zlobec, Tilman T Rau","doi":"10.1002/cjp2.305","DOIUrl":"10.1002/cjp2.305","url":null,"abstract":"<p>The standardized preanalytical code (SPREC) aggregates warm ischemia (WIT), cold ischemia (CIT), and fixation times (FIT) in a precise format. Despite its growing importance underpinned by the European <i>in vitro</i> diagnostics regulation or broad preanalytical programs by the National Institutes of Health, little is known about its empirical occurrence in biobanked surgical specimen. In several steps, the Tissue Bank Bern achieved a fully informative SPREC code with insights from 10,555 CIT, 4,740 WIT, and 3,121 FIT values. During process optimization according to LEAN six sigma principles, we identified a dual role of the SPREC code as a sample characteristic and a traceable process parameter. With this preanalytical study, we outlined real-life data in a variety of organs with specific differences in WIT, CIT, and FIT values. Furthermore, our FIT data indicate the potential to adapt the SPREC fixation toward concrete paraffin-embedding time points and to extend its categories beyond 72 h due to weekend delays. Additionally, we identified dependencies of preanalytical variables from workload, daytime, and clinics that were actionable with LEAN process management. Thus, streamlined biobanking workflows during the day were significantly resilient to workload peaks, diminishing the turnaround times of native tissue processing (i.e. CIT) from 74.6 to 46.1 min under heavily stressed conditions. In conclusion, there are surgery-specific preanalytics that are surgico-pathologically limited even under process optimization, which might affect biomarker transfer from one entity to another. Beyond sample characteristics, SPREC coding is highly beneficial for tissue banks and Institutes of Pathology to track WIT, CIT, and FIT for process optimization and monitoring measurements.</p>","PeriodicalId":48612,"journal":{"name":"Journal of Pathology Clinical Research","volume":"9 2","pages":"137-148"},"PeriodicalIF":4.1,"publicationDate":"2022-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://pathsocjournals.onlinelibrary.wiley.com/doi/epdf/10.1002/cjp2.305","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9295781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}