Masquerading fungal bowel mass in an adolescent: a clinicopathological challenge.

Abdominal masses clubbed with weight loss in the paediatric age group can raise hairs, especially since malignancy is a differential. We present the case of an early adolescent male who presented with abdominal pain and was found to have a mass mimicking a malignancy. The resected surgical specimen revealed entomophthoromycosis of the jejunum and he made a complete recovery following surgery and adjuvant itraconazole. The diagnosis of a fungal aetiology in these cases requires a high index of suspicion and background knowledge of the risk factors, disease occurrence and mode of presentation. Gastrointestinal entomophthoromycosis has an impressive potential for cure if promptly diagnosed and treated.

Comparative histomorphologic study of basement membrane side staining and additional epithelial side staining of the anterior lens capsule with Trypan Blue.

PURPOSE: To compare the histomorphologic changes on the anterior lens capsule by both epithelial and basement membrane side staining to those of only basement membrane side staining of the anterior lens capsule with Trypan Blue (TB). METHODS: A cross-sectional study was done on 72 samples from patients who underwent cataract surgery between April 2021 and September 2022. After capsulorhexis of the TB-stained capsule, it was made into two halves externally and one half labeled as controls (sample A). The other half was immediately stained further with TB on the epithelial side and was taken as cases (sample B). Samples were analyzed for lens epithelial cells and basement membrane changes. RESULTS: The loss of intactness of lens epithelial cells, partial or complete detachment of lens epithelial cells, degeneration of lens epithelial cells, and basement edema were significantly higher in cases compared to controls, whereas intactness of the basement membrane did not show any statistical significance between the two groups. There was a statistically significant decrease in cell density in cases compared to controls. CONCLUSION: Staining the epithelial side of the capsular bag with TB is more detrimental to lens epithelial cells and paves the way for a further study of staining the capsular bag before intra-ocular lens implantation to reduce the incidence of posterior capsule opacification.

Poly (A)-specific ribonuclease deficiency impacts oogenesis in zebrafish.

Poly (A)-specific ribonuclease (PARN) is the most important 3'-5'exonuclease involved in the process of deadenylation, the removal of poly (A) tails of mRNAs. Although PARN is primarily known for its role in mRNA stability, recent studies suggest several other functions of PARN including a role in telomere biology, non-coding RNA maturation, trimming of miRNAs, ribosome biogenesis and TP53 function. Moreover, PARN expression is de-regulated in many cancers, including solid tumours and hematopoietic malignancies. To better understand the in vivo role of PARN, we used a zebrafish model to study the physiological consequences of Parn loss-of-function. Exon 19 of the gene, which partially codes for the RNA binding domain of the protein, was targeted for CRISPR-Cas9-directed genome editing. Contrary to the expectations, no developmental defects were observed in the zebrafish with a parn nonsense mutation. Intriguingly, the parn null mutants were viable and fertile, but turned out to only develop into males. Histological analysis of the gonads in the mutants and their wild type siblings revealed a defective maturation of gonadal cells in the parn null mutants. The results of this study highlight yet another emerging function of Parn, i.e., its role in oogenesis.

Detection of clinically-relevant EGFR variations in de novo small cell lung carcinoma by droplet digital PCR.

Targeted therapy that utilizes tyrosine kinase inhibitors (TKIs), specific to epidermal growth factor receptors (EGFR) has changed the landscape of treatment of non-small cell lung cancer (NSCLC). The success or failure of this approach depends on presence of certain variations in the tyrosine kinase domain of EGFR gene. Generally, patients diagnosed with Small cell lung cancer (SCLC) are considered ineligible for TKI therapy owing to the absence of EGFR variations. . However, there is evidence of these variations being detected in SCLCs, both in de-novo and in transformed SCLCs (TKI-treated adenocarcinomas). Despite the presence of clinically-relevant EGFR variations in SCLCs, the response to TKIs has been inconsistent.  Liquid biopsy is a well-established approach in lung cancer management with proven diagnostic, prognostic and predictive applications. It relies on detection of circulating tumor-derived nucleic acids present in plasma of the patient. In this study, a liquid biopsy approach was utilized to screen 118 consecutive lung cancer patients for four clinically-relevant variations in EGFR gene, which included three activating/sensitizing variations (Ex18 G719S, Ex19del E746-A750 and Ex21 L858R) and one acquired/resistance (Ex20 T790M, de novo) variation by droplet digital PCR, the most advanced third generation PCR technique. As expected, clinically-relevant EGFR variations were found in majority of the non-small cell lung cancer cases. However, among the handful of small cell lung cancer samples screened, sensitizing variations (Ex18 G719S and Ex21 L858R) were seen in almost all of them. Interestingly, Ex20 T790M variation was not detected in any of the cases screened.  The results of our study indicate that EGFR variations are present in SCLCs and highly sensitive liquid biopsy techniques like ddPCR can be effectively utilized for this purpose of screening EGFR variations in such samples.

Item analysis and optimizing multiple-choice questions for a viable question bank in ophthalmology: A cross-sectional study.

Purpose: Multiple-choice questions (MCQs) are useful in assessing student performance, covering a wide range of topics in an objective way. Its reliability and validity depend upon how well it is constructed. Defective Item detected by item analysis must be looked for item writing flaws and optimized. The aim of this study was to evaluate the MCQs for difficulty levels, discriminating power with functional distractors by item analysis, analyze poor items for writing flaws, and optimize. Methods: This was a prospective cross-sectional study involving 120 MBBS students writing formative assessment in Ophthalmology. It comprised 40 single response MCQs as a part of 3-h paper for 20 marks. Items were categorized according to their difficulty index, discrimination index, and distractor efficiency with simple proportions, mean, standard deviation, and correlation. The defective items were analyzed for proper construction and optimized. Results: The mean score of the study group was 13.525 ± 2.617. Mean difficulty index, discrimination index, and distractor efficiency were 53.22, 0.26, and 78.32, respectively. Among 40 MCQs, twenty-five MCQs did not have non-functioning distractor; 7 had one, 5 had two, and 3 had three. Of the 20 defective items, 17 were optimized and added to the question bank, two were added without modification, and one was dropped. Conclusion: Item analysis is a valuable tool in detecting poor MCQs, and optimizing them is a critical step. The defective items identified should be optimized and not dropped so that the content area covered by the defective item is not kept of the assessment.

Primary mucinous carcinoma of buccal mucosa: a rare case report.

Minor salivary gland tumors of oral cavity are very rarely encountered in day-to-day practice. Mucinous adenocarcinoma is very rare, and is commonly seen in elderly males. Palate and buccal mucosa is the commonest site. Wide local excision is the treatment. Histology shows tumor cells floating in pools of mucin, compartmentalized by fibrous tissue. Metastasis is a close mimicker, however with an evidence of negative scan and minor salivary gland proliferation in adjacent tissue diagnosis can be made. Mucin stains and immunohistochemistry can be used to support the diagnosis in problematic cases. We are presenting a rare case of mucinous adenocarcinoma-cheek in a 54-year-old male who came with gradually progressive swelling in the left buccal mucosa since 3 months and after wide excision, no evidence of recurrence was noted in 1 year and 3 months of follow up period.

Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report.

Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells. It usually arises in various types of gonadal dysgenesis containing Y chromosome like pure or mixed gonadal dysgenesis. Occurrence in phenotypically and chromosomally normal women is very rare. We report here a case of gonadoblastoma with dysgerminoma in a 14-years-old girl who presented with a huge tumour, virilisation and normal 46XX karyotype. Association of dysgerminoma is seen in 50% cases of gonadoblastomas. Elevated tumour markers like hCG and alpha Fetoprotein may make the diagnosis challenging.

Immunohistochemical profile and morphology in triple - negative breast cancers.

BACKGROUND AND PURPOSE: Triple Negative Breast Cancer (TNBC) is defined by a lack of expression of the steroid hormone receptors (oestrogen and progesterone), and the human epidermal growth factor receptor-2 (HER-2). It is characterized by distinct molecular, histological and clinical features. It is a high risk breast cancer that lacks the benefit of a specific therapy. Our study was aimed at pathologically illustrating triple-negative breast carcinoma and at evaluating the expression of the Epidermal Growth Factor Receptor (EGFR) ,cytokeratin 5/6 (CK 5/6) and Ki-67 among triple-negative breast cancer cases. Further, we aimed to probe whether triple-negative phenotype could be a surrogate marker for the basal phenotype and to correlate the expression of the basal markers (CK 5/6 and EGFR) with the clinico-pathological prognostic parameters. METHODS: The expression of EGFR, CK 5/6 and Ki-67 were studied by immunohistochemistry (IHC) in 50 triple-negative breast cancer cases. STATISTICAL ANALYSIS: A statistical analysis was implemented by using the SPSS version 20.0. The Chi-square test was conducted to assess the relationship between the immunohistochemical markers and other variables. The Fischer exact test was used when the expected cell counts were less than 5. RESULTS: The women with triple-negative breast cancer were younger, with the adverse pathological characteristics of a high tumour grade, tumour necrosis, frequent nodal metastases and high proliferation. 37 (74%) of the 50 triple-negative breast carcinomas showed the expression of the basal markers (EGFR and /or CK 5/6). We observed a statistically significant association between the basal marker expression and the presence of tumour necrosis. CONCLUSION: The triple-negative breast cancers in our population harbour adverse pathobiological features and a five marker immunohistochemical panel can be reliably used to define the basal-like cancers. The "Triple-negative" status cannot be used as a surrogate for the "basal marker expression".

Uncommon manifestations of Endocervical Malignant Mixed Mullerian Tumor with Incidental Bilateral Fallopian Tube Carcinoma.

A 43-year-old perimenopausal lady presented with bleeding per vagina and lower abdominal pain. On evaluation, she had cervical polyp, which expelled spontaneously during the per speculum examination. Histopathology revealed malignant mixed Mullerian tumor. Extended hysterectomy with salphingo oophorectomy was carried out, which showed bilateral fallopian tube carcinoma and leiomyoma uterus. The patient was treated with carboplatin regime and found to be disease-free for 1 year. This case presented because of a rare combination of the lesions.

Disseminated cutaneous rhinosporidiosis.

Rhinosporidiosis is a granulomatous disorder caused by Rhinosporidium seeberi. It frequently involves the nasopharynx and occasionally affects the skin. We hereby report a case of 46-year-old male who presented with multiple cutaneous plaque-like lesions with nasal obstruction. On examination, multiple cutaneous lesions were found to be present on malar aspect, infraorbital and supraorbital region, right shoulder and over the back near the tip of scapula. Oral cavity revealed a polypoidal lesion, in the base of the tongue. Excision biopsy confirmed the lesions as disseminated cutaneous rhinosporidiosis. The patient was treated with excision and dapsone therapy. After 1 year of therapy, the patient has disease-free survival. We report this rare case of rhinosporidiosis with disseminated cutaneous involvement.