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The latest medical research on Pathology

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Granulomatous panuveitis following prolonged silicone oil tamponade - A Clinicopathological study.

Indian Journal of Pathology and

An enucleated specimen of a silicone oil-filled globe, showing migration of oil globules into the intraretinal, choroidal, and ciliary body areas, ...

Correlation of tumor budding with a novel and other established prognostic parameters in patients with invasive breast carcinoma.

Indian Journal of Pathology and

Breast cancer is the most common malignancy among women. Established prognostic markers in breast carcinomas include tumor size, histologic grade, nodal status, lymphovascular invasion, perineural invasion, hormone receptor status, HER-2 status, and age.

To correlate peripheral tumor budding (pTB) with stromal tumor-infiltrating lymphocytes (sTILs) and established prognostic factors in invasive breast carcinoma.

Fisher exact test and Chi-square test were used.

We found that high tumor budding was seen in 34 cases and low tumor budding in 66 cases. There was a statistically significant association between high tumor budding and tumor size (P = 0.007), lymphovascular invasion (P < 0.001), perineural invasion (P = 0.004), tumor staging/pT (P = 0.006), nodal staging/pN (P = 0.001), and low sTILs (P < 0.001). However, the association of high tumor budding with parameters like age (P = 0.979), histological type (P = 0.243), tumor grade (P = 0.052), DCIS (P = 0.478), and ER (P = 0.633), and PR (P = 0.544), HER2Neu status (P = 0.171) was not significant.

This study suggests tumor budding score can be used as a prognostic indicator for breast cancer.

A rare case of PDGFRA-positive chronic eosinophilic leukemia.

Indian Journal of Pathology and

Chronic eosinophilic leukemia (CEL) is a clonal proliferation of eosinophilic precursors resulting in a persistently elevated number of eosinophils...

EBV-triggered secondary macrophage activation syndrome in the backdrop of lupus in an adult.

Indian Journal of Pathology and

Macrophage activating syndrome (MAS) is a potentially life-threatening condition falling under the spectrum of secondary hemophagocytic lymphohisti...

Foreign body pulmonary vessel embolism and granulomatosis in intravenous drug abuse: An autopsy study.

Indian Journal of Pathology and

The abuse of illicit drugs causes a myriad of systemic complications. Intravenous (IV) injection of such drugs poses various additional threats, pr...

Unveiling bone marrow cryptococcosis in an immunocompetent child: A rare case presentation.

Indian Journal of Pathology and

Cryptococcal infection is less common in immunocompetent hosts and almost always occurs in the setting of HIV disease. Disseminated Cryptococcosis ...

Application of electrospray triple quadrupole mass spectrometry in assessing thalassemia in a population.

Indian Journal of Pathology and

Thalassemia is widely prevalent in Asian countries and the Middle East region of the world. While the prevalence of α thal is around 5-20% in the population, the incidence of β thal is around 3-4%. The available data on thalassemia in Indians is based on chromatographic or electrophoretic techniques. The present study demonstrates the utility of mass spectrometry in detecting thalassemia in a small, healthy population from Tiptur, Karnataka.

The study included a population of 315 individuals, spanning both children and adults, with ages ranging from 4 to 76 years. EDTA whole blood was collected after obtaining their written consent. The intensities of various globin chains were measured using a triple quadrupole mass spectrometer. The ratio of the peak areas of globin chains (α/β, δ/β (%)) served as biomarkers to detect thalassemia. Thirty random samples of α thalassemia were analyzed using GapPCR.

The prevalence of a thal is 21.65% (68/314) based on α/β (< =0.8) and the prevalence of β thal is 3.8% (12/314) based on δ/β (%) (> =11.0). GapPCR detected three heteromutants of α deletion, one mutation in the HBA1 gene, and one a triplication (16.7%, 5/30). One sample was excluded from the analysis due to the presence of a variant.

The utility of mass spectrometry for screening thalassemia in a population is demonstrated. The higher occurrence of α-thalassemia in the studied population underscores the importance of screening for thalassemia in regions with reportedly high prevalence rates.

Rupture of liver myelolipoma in a patient who underwent mitral valve replacement 16 years ago: A case report.

Indian Journal of Pathology and

Myelolipoma is a rarely encountered benign tumour of the liver. Patients may be asymptomatic or may present with clinical signs such as silent hepa...

The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis.

Indian Journal of Pathology and

The co-occurrence of lung adenocarcinoma and brain metastasis remains a significant cause of morbidity and mortality despite advancements in cancer treatment. The activity of neurofibromin, the product of Neurofibromatosis Type 1 gene (NF1), is crucial in regulating the RAS/MAPK pathway. The NF1 somatic mutations are significant in conditions such as melanoma, lung cancer, breast cancer, neuroblastoma, and central nervous system tumors.

Therefore, this research aims to uncover the profile of NF1 mutations and co-mutations in patients with brain metastases from lung adenocarcinoma, shedding light on their role in the pathophysiology of metastatic lung cancer.

In this study, a total of 131 (31 females, 90 males) patients diagnosed with metastatic lung adenocarcinoma who were examined in the Molecular Pathology Laboratory between 2019 and 2022 were retrospectively analyzed. The NF1 somatic mutations and co-mutations were evaluated using the NGS lung panel on the MiniSEQ NGS platform.

The average age of the 131 patients (31 females, 90 males) retrospectively examined in the study was 62.05 years. The ages of the cases included in the study followed a normal distribution according to Kolmogorov-Smirnov test (P = 0.200). Lymph node metastasis was detected in 48 patients (36.6%), while distant organ metastasis was observed in 81 patients (61.83%). Metastases were more frequently seen in males. No statistically significant difference was found between metastases and gender (P > 0.05). Distant organ metastasis (n = 26, 19.8%) and NF1 mutations (n = 8/26, 30.77%) were most commonly observed in the brain. The most common NF1 pathogenic variants in brain metastases were c.2325 + 3A > G (p.M1205fs*12) (n = 6/26, 23.07%) and c.1400C > T (p.T4671) (n = 5/26, 19.23%). There was no statistically significant relationship observed between patients' age, gender, brain metastasis, and NF1 mutation types (respectively, P = 0.98, P = 0.63, and P = 0.87). The mutations that showed the most association with NF1 mutations in brain metastases were PTEN and TP53.

Somatic NF1 mutations and co-mutations can play a critical driving force in metastatic lung adenocarcinoma and may contribute to treatment resistance. The mutational landscape of somatic NF1 mutations and co-mutations can provide new insights into the pathophysiology of metastatic lung cancer, especially those that have metastasized to the brain.

Clinico-pathological association of BCL2 in invasive breast carcinoma: A study from tertiary care health centre in Northern India.

Indian Journal of Pathology and

B-cell lymphoma 2 (Bcl-2) is an antiapoptotic protein and an important clinical breast cancer prognostic marker. The aim of this study was to evaluate the relationship between the BCL2 expression and clinico-pathological parameters in breast cancer.

Present study is observational cross-sectional study of 100 biopsy proven cases of breast cancer, and cases with resection specimens were included. IHC analyses for ER, PR, Her2neu, Ki67 and Bcl2 were performed in each case.

Bcl2 expression was seen in 52% cases. BCL2-positive expression was associated with lower histological grade (0.026), low Ki-67 level (<14%, P < 0.001), hormone receptor positivity (P < 0.001) and luminal breast cancer (P < 0.001) but no association with tumour size, lymphovascular invasion, perineural invasion and TNM stage.

Expression of Bcl-2, an antiapoptotic protein, is associated with low-grade, slowly proliferating, luminal A-type BC. IHC analysis of Bcl-2 is simple, inexpensive, readily available test to stratify early-stage hormone-positive patients who can be included in clinical trials for Bcl-2 inhibitors.

The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review.

Indian Journal of Pathology and

BCOR-rearranged sarcomas (BRS) constitute relatively newly described sarcomas, which, within the musculoskeletal sites, usually occur in the bones,...

Primary tumor lymphangiogenesis in oral squamous cell carcinoma with N0 neck is the key determinant of its therapeutics.

Indian Journal of Pathology and

Vascular Endothelial Growth Factor-C (VEGF-C) plays a critical role in tumor growth and invasion through lymphangiogenesis and helps to identify the variability of lymphatic potential of oral squamous cell carcinoma (OSCC) cases with or without lymph node metastasis.

A total of 65 cases of OSCC were included. The clinical details were obtained from patient records. The cases were grouped as N0 versus any N categories. All the cases were immunohistochemically evaluated for VEGF-C within the primary tumor using a standard protocol. An average of 5 lymph nodes were dissected from all neck dissection specimens and were evaluated histopathologically. The data obtained were statistically evaluated at 95% confidence interval and P ≤ 0.05.

100% cases in our study showed VEGF-C immunopositivity. The immunoreactivity increased linearly with advancing grades. A total of 31 out of 40 N0 OSCC revealed score 2 (26%-50%) of VEGF-C immunoreactivity. Eighteen cases were false negative clinically.

Recognition of locoregional spread may empower clinicians for correct therapeutic decisions in N0 versus any N case.