Neonatal autopsy-is it relevant in today's era?

Autopsy of infants can provide vital information about the cause of death and contributes to the detection of diagnostic errors, especially in a low- or middle-income country. To observe the clinicopathological agreement in neonatal deaths in neonatal intensive care units (NICU) and comment on the additional information retrieved by autopsy. A retrospective observational study was conducted in the NICU from January 2020 to December 2022. Neonatal deaths were analyzed, and clinical details and autopsy findings were collected. Both clinical and pathological diagnoses were classified according to the Goldman classification. Twenty-two newborn infants were enrolled. The mean gestational age was 33.5 (±4.38) weeks, and the median birth weight was 1510 (1005-2100) g. There was complete concordance between clinical and pathological diagnosis in 11 (50%) cases. Major diagnostic errors occurred in 41% of cases. Respiratory system disorders (lung infections, airway anomalies) accounted for six (54%) cases of missed diagnosis. Our study showed that the diagnosis was revised after autopsy in about one-third of cases, and newer findings were identified in one-fifth of cases.

Congenital Intraoral Dermoid and Epidermoid Cyst with Orocutaneous Fistula Presenting with Life-threatening Airway Obstruction in an Infant.

Dermoid cysts and epidermoid cysts in the floor of the mouth are rare in the pediatric age group. In this case report, we have discussed the presentation, management, and literature review of a 6-month-old female child presenting with both dermoid and epidermoid cysts in the floor of the mouth with an orocutaneous fistula.

Biliary Cystadenoma in a Child: A Rare Entity.

Biliary cystadenoma, a rare potentially malignant hepatic cystic lesion, is characterized by multiloculations and septations. It is common in middle-aged females (about 5% of nonparasitic liver cysts); only 12 cases are described in children. We report a rare case of hepatic biliary cystadenoma in a 3-year-old girl, with a gradually increasing lump in the right upper abdomen. Complete excision with a healthy liver margin was done.

Determination of target genes for classified molecular subtypes of triple-negative breast cancer form microarray gene expression profiling: An integrative in silico approach.

BACKGROUND: Highly heterogeneous triple-negative breast cancer (TNBC) has tough clinical features, which were gradually solving and improving in diagnosis by the molecular subtyping of TNBC. AIM: Presently, this study was focused on analyzing the genetic makeup of TNBC subtypes. SETTINGS AND DESIGN: This study explored the MicroArray expression profiling of differentially expressed genes in molecular subtypes BL1, BL2, IM, luminal androgen receptor, M, and mesenchymal stem-like of TNBC by analyzing the Gene Expression Omnibus dataset GSE167213. Various gene ontologies-based protein-protein interaction (PPI) networks were subtyped TNBC genes. The effect of genetic alteration on TNBC cases was also interpreted. MATERIALS AND METHODS: The MicroArray gene expression profiling was done through R programming and subjected to functional annotation through the database for annotation, visualization, and integrated discovery. The PPI networking of functionally associated genes was interpreted by STRING. The survival analysis was done through cBioPortal. STATISTICAL ANALYSIS USED: The t -test was used through R programming to generate the P values for a test of the significance of expressed genes. RESULTS: A total of 54,613 significant probes were analyzed in the TNBC MicroArray dataset. The functional PPI networks of BL1, BL2, and IM upregulated genes showed significant associations. The survival analysis of differentially expressed genes showed the significant prognostic effect of 32 upregulated genes of different subtypes on TNBC cases with genetic alterations, whereas the remaining genes showed no significant effects. CONCLUSION: The output of the present study provided significant target gene panels for different TNBC subtypes, which would add an informative genetic value to TNBC diagnosis.

Currarino syndrome with immature teratoma: A case report with review of literature.

ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.

Syringoid eccrine carcinoma of the nipple in a male patient with lymph node metastasis: A case report.

ABSTRACT: Syringoid eccrine carcinoma of nipple is an extremely rare neoplasm of adnexal origin with variable clinical appearance and diverse histologic findings. Syringoid eccrine carcinoma (SEC) is often a diagnostic dilemma due to its morphology and presentation. Usually, these malignancies arise as non-ulcerated nodules or plaques in the head & neck region including the trunk. They are locally aggressive and have an infiltrative growth pattern with a propensity for metastasis. SEC is characterized by syringoma-like tadpole morphology with ductular differentiation and predominant desmoplasia. Immunostaining in SEC is variable and this variability is believed to arise from the tumor's ability to differentiate along multiple routes including sweat secretory and or ductal differentiation. Here we present a rare case of SEC/ syringomatous carcinoma of nipple in a 51-year-old male breast with associated axillary lymph node metastasis. As per English literature, this is the second case of SEC in nipple of male patient.

Primary invasive squamous cell carcinoma of the nipple in an adult male: A case report and brief review of literature.

This is a case report of a rare and uncommon primary invasive squamous cell carcinoma (SCC) of the nipple in a male patient. The patient presented with an ulcerated growth over the left nipple for the last 20 years, which progressed over the last 6 months. He underwent wide local excision with level II axillary lymph node dissection, and one out of 42 lymph nodes harvested showed metastatic deposit. The patient was planned for follow-up with no adjuvant treatment, and had no evidence of local-regional or distant recurrence at 24 months follow-up. The primary invasive SCC of male nipple is very rare, and its diagnosis is challenging as it can be confused with other clinical conditions. However, a histopathological examination with immunohistochemistry can differentiate primary SCC nipple from other differential diagnoses. The treatment options for cutaneous SCC include surgical excision, cryotherapy, electrosurgery, topical ointments, definitive radiation therapy, and photodynamic therapy. Regional lymph node dissection in SCC nipple could potentially have therapeutic and prognostic significance.

An unreported case of intraoperative frozen section diagnosis of a sclerosing stromal tumor of the ovary- A report with a review.

ABSTRACT: Sclerosing stromal tumor is a benign sex cord-stromal tumor, that commonly occurs in the second and third decades of age. Intraoperative diagnosis of this entity poses a great challenge because of the rare occurrence and can mimic malignant lesions. A 15-year-old female presented with a right ovarian mass. Serum markers were within normal limits. The radiological evaluation showed a large heterogeneously enhancing solid cystic abdominopelvic mass of size 16 × 14 × 9 cm with non-visualization of both ovaries separately and a few areas of calcification with mild ascites. An open cystectomy was performed. A part of the cyst wall was sent for an intraoperative frozen section. It was reported as sclerosing stromal tumor, and the post-operative specimen also confirmed the same. Areas of calcification and ossification were also identified as additional findings. We reported this case because of the uncommon occurrence, highlighting additional histological features, and also did a literature review, especially focussing on the intra-operative diagnosis.

A Novel Report of mycetoma with Spinal Spread due to Madurella fahalli from India.

Eumycetoma caused by Madurella fahalii, a drug-resistant fungus, has never been reported in India. Here, we describe a fatal case of eumycetoma with spinal involvement due to M. fahalii for the first time in India.

Correlation of multiparametric MRI with histopathological grade of peripheral zone prostate carcinoma.

BACKGROUND: Prostatic cancer is the second most common malignant tumor in men. Preoperative grading of prostate cancer is important for its management. Our objective is to compare individual and combined detection rates of T2-weighted imaging (T2WI), diffusion weighted imaging (DWI), dynamic contrast enhanced-magnetic resonance imaging (DCE-MRI), and magnetic resonance spectroscopy (MRS) for prostate cancer with histopathological diagnosis as its golden standard. METHODS: Forty-four patients with positive digital rectal examination (DRE) findings and elevated prostate specific antigen (PSA), underwent multiparametric MRI (Mp-MRI). T2WI, DWI, DCE-MRI and MRS were done in all the patients. Cognitive magnetic resonance-transrectal ultrasound (MR-TRUS) fusion biopsy was done in all the patients. Sensitivity and specificity of T2WI, DWI, DCE-MRI, and Prostate Imaging - Reporting and Data System PIRADS version 2 was obtained. Apparent diffusion coefficient (ADC) value and choline/citrate ratio were obtained for each lesion and correlated with histopathological grade. RESULTS: The mean age of the patients was 68.7 ± 10.1 years, and the mean serum PSA level was 58.1 ± 22.4 ng/dL. Of the 38 lesions in peripheral zone, 33 (87%) had histopathologically proven prostate cancer. T2WI had a sensitivity and specificity of 75.8% and 80% and DWI had a sensitivity and specificity of 90.9% and 80%, respectively, for detection of malignant prostatic lesion. The mean ADC values for prostate cancer, prostatitis, and normal prostatic parenchyma were 0.702 ± 0.094 × 10-3 mm2/sec, 0.959 ± 0.171 × 10-3 mm2/sec, and 1.31 ± 0.223 × 10-3 mm2/sec, respectively. Type 3 curve has lower sensitivity (45.5%) but high specificity (80%) for diagnosing prostate cancer. CONCLUSION: DWI can be useful to differentiate benign from malignant prostatic lesions, and low-grade from high-grade prostate carcinoma. ADC value has a positive correlation with histopathological grade of prostate cancer.

Giant epidermal inclusion cyst of the thyroid: a rare occurrence

Epidermal inclusion cyst (EIC) of the thyroid is extremely rare in the clinical practice. A handful of cases have been documented in the past in the world literature. A giant EIC of the thyroid is hitherto unreported. This lesion may arise from the squamous metaplasia of the thyroid follicular cells. Though non-neoplastic, giant forms can cause compression of the vital structures of the neck. In the present case, we have described a giant epidermal inclusion cyst successfully managed with surgical management.

Intraconal orbital dermoid cyst: a rare location

Intraconal dermoid cysts are very unusual in routine clinical practice. Clinical symptoms depend upon the site and extension of the lesion. Though rare, proptosis, diplopia, and orbital pain are the presenting symptoms encountered in patients with an intraorbital dermoid cyst. Although radiology can be diagnostic, a complete correlation with the final histopathology is always mandatory for its confirmation. Endoscopic excision of the cyst ensures a complete cure for the disease without any intraoperative/postoperative complications.

Primary malignant giant cell tumor of the sternum

Primary malignant giant cell tumor (PMGCT) is a diagnosis based on the presence of a high-grade sarcomatous component along with a typical benign giant cell tumor (GCT). We report the first case of PMGCT of the sternum in a 28-year-old male with painless swelling over the manubrium sterni. The differential diagnoses of PMGCT and giant cell-rich osteosarcoma were considered. Surgical resection was performed, and the reconstruction was done with a neosternum using polymethyl methacrylate and prolene mesh. At 30 months follow-up, the patient is disease-free.

Elastosis Perforans Serpiginosa: a D-penicillamine induced dermatoses in a patient with Wilson's disease

Long term use of D-penicillamine for Wilson's disease can be associated with many adverse reactions and systemic side effects. We report the case of a 28-year-old male patient diagnosed with Wilson's disease presenting with a serpiginous raised violaceous skin lesion in the anterior aspect of the neck over the last six months and two small papules with central umbilication during the last month. Histopathological examination of skin lesions demonstrated transepidermal perforating channel, and the Verhoeff's-van Gieson stain showed marked increase number of irregular serrated elastic fibers suggesting the diagnosis of D- penicillamine induced elastosis perforans serpiginosa.

Warthin-like mucoepidermoid carcinoma of the parotid gland: a diagnostic and therapeutic dilemma

Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor. Although the parotid gland is the most common site of involvement, other major salivary glands and the minor salivary glands­most commonly of the palate­also can be involved. The management of mucoepidermoid carcinoma depends on the grade of the tumor and the adequacy of resection. We present the case of a 56-year-old female presenting a painless progressive cheek mass over 2 months. Imaging and fine-needle aspiration cytology provided the diagnosis of Mucoepidermoid carcinoma. A superficial parotidectomy was done, and the histopathology revealed a predominantly cystic tumor with a bilayered epithelium of oncocytic and basal cells. Moderate nuclear pleomorphism with infiltration of atypical squamous cells in few glandular cysts was seen. Special staining revealed the presence of intracellular mucin. A diagnosis of Warthin-like variant of MEC was made, based on these findings. After the surgical procedures, the patient is disease-free at 8 months of follow-up. The Warthin-like variant is a rare variant of MEC with fewer than 10 cases described in the English literature. Various differential diagnoses include the malignant transformation of Wartin tumor (WT), squamous metaplasia of WT, and metastasis from a distant primary. We emphasize the role of routine microscopy in identifying rare variants of common malignancies. Even though translocation studies are helpful in diagnosis, the typical histopathological findings should confirm it.