Human Pathology Reports最新文献

Background

Hematological parameters are significantly affected by both immediate and prolonged exposure to smoking. The objective of this investigation is to evaluate the influence of cigarette smoking on hematological parameters among male students enrolled at Basrah University in Iraq.

Methods

The study comprised a total of seventy male participants, divided into two groups: smokers (n = 35) and nonsmokers (n = 35). Each participant provided a 5 ml venous blood sample to analyze the complete blood count using a hematology analyzer (Spinreact, Spincell 3).

Results

Cigarette smokers exhibit notably elevated levels of Red Blood Cells (RBC) counts, Hemoglobin (HGB), Red Cell Distribution Width-CV (RDW-CV), granulocytes%, and platelets%, whereas Mean Corpuscular Volume (MCV) and lymphocytes% are notably lower among smokers. On the other hand, Hematocrit percentage (HCT), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC), and White Blood Cells (WBC) counts show no significant difference between cigarette smokers and nonsmokers. In contrast, Red Cell Distribution Width-SD (RDW-SD), Mid-range cell percentage (MID%), Mean Platelet Volume (MPV), Distribution Width (PDW), Platelet Plateletcrit percentage (PCT), Platelet-Lymphocyte Cell Ratio (P_LCR) and Platelet-Lymphocyte Cell Count (P_LCC) demonstrate no substantial variance between the two groups at the statistical significance threshold.

Conclusion

This investigation concludes that tobacco cigarette smoking leads to detrimental alterations in hematological parameters, posing health risks.

SMARCA4-deficient neoplasms have been identified in several organs, including the lung, thorax, esophagus and ovary. In some cases, SMARCA4-deficient neoplasms are associated with specific histologic subtypes, such as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). These tumors are often high-grade and aggressive, with a propensity for early metastasis and poor prognosis. SMARCA4 (also known as BRG1) is a chromatin-remodeling protein that plays an important role in gene expression regulation. SMARCA4 loss results in altered expression of cell cycle regulators and DNA damage response genes, leading to genomic instability and oncogenesis. We describe the first clinical case of a SMARCA4-deficient carcinoma of the salivary glands, found in a rapidly growing parotid lesion. Initially, the tumor had ipsilateral cervical lymph node metastases without any distant metastases. After tumor surgery with total parotidectomy and neck dissection on the left side, adjuvant radiotherapy was performed. Shortly after completion of radiotherapy, re-staging by a CT scan showed metastases at multiple sites. Immunotherapy with a PDL1 inhibitor and additional palliative radiotherapy for the bony metastases was then initiated.

Urinothorax represents a very rare form of pleural effusion with significant clinical and laboratory variability making diagnosis difficult. We encountered a 63-year-old male who presented to the hospital for an elective right percutaneous nephrolithotomy for a staghorn calculus. Following this procedure, a novel right sided large pleural effusion was noted. Pleural studies were consistent with a pneumothorax and a likely urinothorax. Cloudy, amber, transudative pleural fluid was submitted for cytologic analysis. Cell morphology and immunohistochemical studies confirmed the clinical impression of urinothorax. This study shows that cytologic analysis with ancillary immunohistochemical stains is a convenient method for urinothorax diagnosis. Etiological identification of the pleural effusion is critical for patient management.

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy, but the spinal cord is rarely examined. Here we report a case of DMD with interesting spinal cord findings. In a 37-year-old man with DMD accompanied by hypoxic encephalopathy from the age of 32 years, autopsy showed amyotrophic lateral sclerosis-like pyramidal tract degeneration over the entire spinal cord, presumably due to hypoxic encephalopathy. Furthermore, anterior horn cells exhibited Wallerian degeneration-like changes. To investigate more about the pathogenesis, an immunohistochemical study using anti-synaptophysin, glutamic acid decarboxylase (GAD), postsynaptic density protein-95 (PSD-95) and choline acetyltransferase (ChAT) antibodies was performed. Immunostaining for synaptophysin showed that the number of synapses around anterior horn cell were decreased, contrary to the finding of teenage DMD, in which the number of synapses were increased, probably due to the reaction toward the reduced anterior horn cell activity. The decrease of synapses of the present case may be mainly due to hypoxic encephalopathy, based on the degeneration of the pyramidal tract. Another interesting finding is that GAD was strongly positive in the cytoplasm of anterior horn cells, which may be explained by Wallerian degeneration-like mechanism. Moreover, the expression of PSD-95 is increased in anterior horn cells. Compensation for postsynaptic damage can be considered, since dystrophin is necessary for maintaining the post-synaptic maintenance. There were no apparent differences in ChAT immunostaining. Further investigation is necessary whether these findings are characteristic of long-term surviving cases accompanied by hypoxic encephalopathy.

Background

Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal neoplasm with uncertain origin that is commonly seen in the lower extremities. Due to lack of specific clinical presentation, radio-pathologic and immunohistochemical (IHC) findings, the diagnosis of EMC is challenging.

Case report

Here we report a 60-year-old female presenting with a slow-growing tender mass on the right medial knee over the last 10 years. Histological evaluation of the resected specimen showed a subcutaneous multi-lobular lesion composed of uniform bland small oval to spindle shaped cells interconnected to arrange in cords and clusters in abundant myxoid matrix. Necrosis was identified in 10 % of the specimen. IHC staining showed that the tumor cells were weak and patchy positive for INSM1 and NSE and rarely positive for EMA. DNA and RNA next-generation sequencing reveal a dual gene rearrangement, including EWSR1::NR4A3 and HAPLN1::EDIL3 fusion. The combination of histopathologic and molecular findings supports the diagnosis of EMC.

Conclusion

This is the first reported case, to the best of our knowledge, of EMC with dual gene fusions. Although diagnostic and prognostic significance of HAPLN1::EDIL3 fusion and coexistence of HAPLN1::EDIL3 fusion and EWSR1::NR4A3 fusion in EMC remains unknown at this time, our hope that this case will be helpful to broaden the spectrum of known gene fusion variants in EMC, and augment the awareness and interest of researcher in investigating the impact of individual HAPLN1::EDIL3 fusion and dual gene rearrangement of HAPLN1::EDIL3 fusion and EWSR1::NR4A3 fusion on clinical behavior of EMC.

Papanicolaou (Pap) smear on cervical cells heralded the revolution of modern cytopathology in the middle of the 19th century, and cervical screening is now considered one of medicine’s greatest success stories. While routine cervical cytology has significantly reduced the incidence of cervical cancer worldwide, it is not without limitations. Although the specificity of Pap smear to detect high-grade intraepithelial lesion (HSIL)/cervical intraepithelial neoplasia (CIN) 2–3 is consistently high, the sensitivity ranges broadly from 34 % to 94 % [1]. Given the rapid evolution in understanding the etiologic role of high-risk human papillomavirus (hrHPV) in cervical cancer development, the clinical guidelines have transitioned from “evidence-based” to “risk-stratified” algorithms. Primary hrHPV testing as a more sensitive test for high-risk cervical lesion (CIN2+) detection is considered the preferred screening test in some guidelines, but due to its low specificity, a follow-up triage test is needed to reduce unnecessary colposcopy referrals. Candidates for the triage test include cytology, biomarkers such as P16/Ki67 dual stain (DS), and hrHPV genotyping. This review discusses the advantages and potential issues with primary hrHPV testing and dual stain, the current American Society of Colposcopy and Cervical Pathology (ASCCP) guideline with a focus on new endocervical curettage (ECC) guidelines, as well as the new World Health Organization (WHO) classification of endocervical adenocarcinoma and the impact on cervical cytopathology.

Secretory breast carcinoma is a rare form of breast cancer characterized by low-grade histology, presence of intracellular eosinophilic secretions, and ETV6-NTRK3 fusion. Although several studies have explored the histopathologic features of secretory carcinoma, limited attention has been given to the in situ component. We report 5 cases of secretory breast carcinoma with an extensive intraductal component and describe morphologic and biologic characteristics of the in-situ component of secretory breast carcinoma, along with a detailed review of the literature, and discuss potential diagnostic pitfalls in erroneously identifying the in situ lesion as florid hyperplasia.