Isolated embryonal rhabdomyosarcoma of the anterior petrous bone in a young child: Focusing on the intra-operative diagnosis and differentials.

OBJECTIVE: Rhabdomyosarcoma is a common soft tissue tumor, but isolated involvement of anterior portion of petrous bone is exceedingly rare. Here, we present a case of embryonal rhabdomyosarcoma involving the anterior petrous without involvement of the mastoid and middle ear. PATIENT: A 6-year-old boy presented with a progressive right side lower motor neuron facial paresis for 1-month duration along with headache and recurrent vomiting episodes. Radiology showed a contrast-enhancing lesion involving the right petrous apex. He underwent craniotomy and excision of the lesion. Based on the frozen section, a diagnosis of rhabdomyosarcoma was rendered, and gross total resection could be achieved. Postoperative course was uneventful. CONCLUSION: Isolated petrous bone involvement of embryonal rhabdomyosarcoma is a rare presentation. Intra-operative frozen section plays a key role in decision making regarding the extent of excision. Hence, a prompt and accurate diagnosis is essential in managing these cases.

Clinical study of steroid receptors in nonmuscle invasive bladder cancer: A domain worth revisiting.

Introduction: The prognostic significance of steroid receptors in bladder cancer remains controversial. This study was designed to determine the expression status of androgen receptor (AR), estrogen receptors (ERα and Erß), and its potential role in predicting survival in patients with nonmuscle invasive bladder cancer (NMIBC). Methods: Sixty patients of NMIBC were screened and 57 (41 males and 16 females) were included in our study. The tissue microarray slides were evaluated by pathologists blinded to the clinical information. Association of distribution of steroid receptors with stage, grade, progression, and recurrence was seen. Results: The mean age of the population was 60.9 ± 9.3 years. Pathologically, majority of the patients were Ta (Ta: T1 stage 61.4% vs. 38.6%). Nine (15.8%) of the tumors stained positive for AR while one (1.8%) tumor stained positive for ERα and 36 (63.2%) tumors stained for ERß. A higher proportion of male NMIBC stained positive for AR (19.5% vs. 6.2%, P = 0.420) while ERß positivity was higher in females (58.5% vs. and 75%,P = 0.247). AR-negative tumors showed higher recurrence (20/48%-42%) as compared to AR-positive tumors (2/9%-22%). ERß-positive tumors showed higher recurrence (15/36%-42% vs. 7/21%-33%, P = 0.179). Progression-free survival (PFS) was found to be significantly lower for ERß-negative group (log-rank test P = 0.035). Conclusion: AR and ERß positivity is found in NMIBC patients while ERα shows minimal staining in NMIBC patients. Although it did not reach a statistical significance, a higher proportion of AR-negative and ERß-positive tumors recurred as compared to AR-positive and ERß-negative patients. PFS was significantly lower in ERß-negative group. Further exploratory studies on larger sample sizes are required to validate these findings in NMIBC patients.

Effect of functional variant rs11466313 on breast cancer susceptibility and TGFB1 promoter activity.

PURPOSE: This study aimed to investigate whether genetic polymorphisms in TGFB1 contribute to breast cancer (BC) susceptibility, and explore the mechanism of action. METHODS: A total of 7 tagging SNPs (tSNPs) were genotyped in 1161 BC cases and 1337 age-matched controls among Chinese Han population. Bioinformatics analysis was used to predict functional SNP closely linked to tSNPs. Luciferase gene reporter assay was performed to determine the effect of genetic variants on promoter activity. DNA pull-down assay and mass spectrometry were used to identify the differentially binding proteins to genetic variants. RESULTS: Genotyping analysis showed that rs1800469 (C>T) in the 5' regulatory region of TGFB1 was associated with reduced BC risk. Bioinformatics analysis predicted that rs11466313 (-2389_-2391 Del/AGG) in the 5' regulatory region of TGFB1, was closely linked to tSNP rs1800469 and could be functional. The genotyping of rs11466313 by PCR-SSCP showed that rs11466313 also conferred decreased BC risk. Luciferase assays demonstrated that rs11466313 minor allele reduced over ninefold of promoter activity compared with its major allele (p < 0.001). DNA pull-down assay and mass spectrometry revealed that rs11466313 minor allele lost the binding ability with FAM98B and HSP90B. Knocking down FAM98B but not HSP90B, the enhanced promoter activity driven by TGFB1 rs11466313 major allele was attenuated. CONCLUSIONS: This study elucidates the impact of functional polymorphism rs11466313 in the regulatory region of TGFB1 on breast cancer susceptibility and gene expression, and could be helpful for future research to determine the value of this TGFB1 variant in the clinical setting.

Transjugular Versus Percutaneous Liver Biopsy in Children: Indication, Success, Yield, and Complications.

BACKGROUND/OBJECTIVE: Percutaneous biopsy (PB) and transjugular liver biopsy (TJLB) are 2 main ways of obtaining liver tissue. We evaluated the indications, success rate, tissue yield, and complications of TJLB in comparison to PB in children. METHODS: Electronic records of children undergoing liver biopsy (LB) were reviewed. Clinico laboratory data including indication, type of biopsy, complications, and tissue yield (length and number of complete portal tracts [CPT]) were noted. RESULTS: Five hundred forty LB (indication: neonatal cholestasis [42.9%], chronic liver disease [43.7%], liver failure [3.7%], focal lesions [3.3%] and others [6.3%]) were done. Four hundred seventy-three were PB (317 boys, 14 [1--216] months) done by percussion (322 [68%]), real-time ultrasound guidance (125 [26.4%]), or plugged method [26 (5.5%)]. Sixty-seven (12.4%) were TJLB [38 boys, 140 (24--216) months], done in patients with contraindications for PB. Technical success (67/68 vs 473/473; P = 0.7) and complications (4 [6%]; vs 15 [3.3%]; P = 0.2) of TJLB and PB were similar. Major complications (0.5%) included supraventricular tachycardia (n = 1) in TJLB and hemoperitoneum (n = 2) in PB. Tissue yield of TJLB was poorer in terms of length (1.0 [0.2--2.0] vs 1.1 [0.4--2.1] cm; P < 0.001), CPT (4 [0--9] vs 5 [2--17]; P < 0.001) and adequacy for reporting (56/67 vs 459/473; P < 0.001). Biopsy yield of <6 CPT was predicted by cirrhosis at histology and TJLB. No factor identified risk of complications with LB. CONCLUSIONS: LB is a safe procedure and only 12% children require TJLB because of contraindications of PB. Technical success and complications are similar but tissue yield is poorer in TJLB than PB. Presence of cirrhosis and TJLB adversely affected tissue yield.

Cerebral phaeohyphomycosis: The 'Dark Side' of fungal infections.

PURPOSE: Cerebral phaeohyphomycosis is a rare and fatal fungal infection of the central nervous system (CNS) caused by dematiaceous fungi. The aim of this study was to analyse the clinico- radiological presentation, pathology and outcome of cerebral phaeohyphomycosis and discuss the relevant literature. PATIENTS AND METHODS: Data of 7 patients diagnosed with cerebral phaeohyphomycosis and managed at our institute between 2014 and 2020 was collected and reviewed retrospectively. The diagnosis was established after surgery on KOH mount, Sabouraud dextrose agar, frozen section or histopathology. The clinical, radiological and pathological characteristics along with outcomes were analysed. RESULTS: Three patients with underlying comorbidities [chronic renal failure-2 and haematological malignancy -1] presented with brain abscess. The remaining 4 had no comorbidities. Two of them mimicked cystic glioma and one patient presented as intraventricular tumour. Another patient on anti- tubercular treatment for suspected pulmonary tuberculosis presented with encephalitis. Histopathology in all patients showed diffuse micro abscesses with coarse and reactive gliosis in the adjacent brain parenchyma and chronic lymphomononuclear inflammation without angioinvasion or vasculitis. Four showed granuloma formation. Antifungals were started after diagnosis. Six out of seven patients died and one was lost to follow up. CONCLUSION: Cerebral phaeohyphomycosis presents as abscesses in immunocompromised patients and mimics tumours in immunocompetent patients. KOH mount and frozen section examination is simple yet effective tool for establishing early diagnosis. Overall, the prognosis is dismal. Administering antifungals early in the course of management along with aggressive surgical excision may improve outcomes.

A case of paraneoplastic hyperleukocytosis closely mimicking chronic neutrophilic leukemia.

Leukemoid reaction and myeloproliferative syndrome are close mimickers and frequently pose a diagnostic dilemma, particularly when the leukocyte count is very high. Leukocyte alkaline phosphatase score frequently aids in diagnosis but may or may not be contributory, especially in differentiating chronic neutrophilic leukemia. Herein, we document a case of leukemoid reaction with extensive hyperleukocytosis in a 46-year-old female with poorly differentiated carcinoma. The tumor itself as well as the associated leukocytosis portends a poor prognosis.