Increased Gene Expression of C1orf74 Is Associated with Poor Prognosis in Cervical Cancer.

C1orf74, also known as URCL4, has been reported to have higher expression and be associated with poor prognosis in lung adenocarcinoma patients, and its role in regulation of the EGFR/AKT/mTORC1 pathway has been recently elucidated. In the current study, we used publicly available data and experimental validation of C1orf74 gene expression and its association with prognosis in cervical cancer patients. qRT-PCR was performed using RNA from cervical cancer cell lines and twenty-five cervical cancer patients. Data from TNMplot revealed that mRNA expression of the C1orf74 gene in primary tumor tissues, as well as metastatic tissues from cervical cancer patients, was significantly higher compared to normal cervical tissues. HPV-positive tumors had higher expression of this gene compared to HPV-negative tumors. qPCR analysis also demonstrated higher expression of C1orf74 in HPV-positive cervical cancer cell lines and most cervical cancer patients. The promoter methylation levels of the C1orf74 gene in cervical cancer tissues were lower compared to normal cervical tissues (p < 0.05). Collectively, our study indicates that higher expression of the C1orf74 gene caused by hypomethylation of its promoter is associated with poor overall survival in cervical cancer patients. Thus, C1orf74 is a novel prognostic marker in cervical cancer.

Multifocal intraosseous pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma: A rare presentation of an uncommon tumor.

ABSTRACT: Pseudomyogenic hemangioendothelioma (PHE) is an uncommon mesenchymal neoplasm of intermediate malignant potential showing endothelial differentiation. Around 20 cases of primary osseous PHE have been reported to date. A 16-year-old boy presented with complaints of pain in his right leg. Imaging revealed multifocal intramedullary and cortical-based lytic lesions involving long and small bones. Microscopic examination revealed plump, spindled cells arranged in fascicles and admixed "epithelioid" and "rhabdoid" cells sans vasoformative areas. By immunohistochemistry, the lesional cells were reactive for AE1/AE3, CD31, Erg, Fli1, and SMA, while immunonegative for CD34, myogenin, and S100. Nuclear expression of the INI1/SMARCB1 protein was retained. PHE is a rare entity, more so as a primary osseous lesion; therefore, awareness of the presence of this entity in the bone is the key to making a diagnosis. We discuss its clinicopathological features, differential diagnosis, and an attempt a short review of the literature.

Clinical profile, diagnosis, treatment, and outcome of patients with tubercular versus nontubercular causes of spine involvement: A retrospective cohort study from India.

Background: In tuberculosis (TB) endemic areas, other pyogenic causes of spine involvement may be missed. The study aimed to describe TB and non-TB causes of spine involvement and identify features that can help in differentiating them. Methods: A retrospective cohort study was conducted to screen the clinical records of all admitted patients (Kasturba Hospital, Manipal) in 2018-20 for a diagnosis of spondylitis and/or sacroiliitis. The clinical features, radiological findings, laboratory parameters, treatment details, and outcomes were compared among those diagnosed with confirmed TB, confirmed brucellosis, or confirmed pyogenic infection. A scoring system was also developed to differentiate spondylodiscitis due to tuberculous and pyogenic causes. The qualitative variables were compared using the Chi-square test, while quantitative variables were compared using the one-way analysis of variance test. Results: Of 120 patients with spine infections, a total of 85 patients were confirmed with the microbiological diagnosis of interest. Involvement of the thoracic spine, longer duration of illness, and caseous granulomatous reaction on histopathology was more common in TB patients. Male gender, involvement of lumbar vertebra, and neutrophilic infiltrate on histopathology were more common in brucellosis patients. Male gender, diabetes mellitus, involvement of lumbar vertebra, neutrophilic infiltrate on histopathology, leukocytosis, and increased C-reactive protein were more commonly seen in patients with pyogenic infection. The scoring system had a sensitivity and specificity of 75% and 91%, respectively, when used to differentiate TB from pyogenic infection. Conclusions: In resource-limited settings, suggestive findings can be used to decide empiric therapy.

Hydatid Cyst in Liver Masquerading As Metastatic Deposits From Ovarian Carcinoma.

Metastatic deposits from primary ovarian malignancy can manifest as cystic masses in the liver. In endemic areas, hydatid disease is an important differential in all cases of cystic hepatic masses. We report a case of a 55-year-old lady who presented with progressive abdominal distension and was diagnosed with primary ovarian high-grade serous carcinoma. Imaging revealed concurrent lesions in the liver that were thought to be metastatic deposits but was later diagnosed as hydatid cyst based on radiologic features and serology. We report this rare case to highlight the importance of suspecting a hydatid cyst in endemic areas and its varied manifestations.

Disseminated Cryptococcosis in an Immunocompetent Child.

Disseminated cryptococcosis in children is a classic affliction associated with human immunodeficiency virus (HIV) infection or primary inherited immunodeficiency disorders (PID) with central nervous system being the most common site of dissemination. We report a rare case of disseminated cryptococcosis in an 11-year-old girl who presented with pulmonary involvement, hepatosplenomegaly, and generalized lymphadenopathy. No known inherited or acquired immune deficiencies were identified after a comprehensive laboratory work-up including genetic sequencing. She responded well to anti-fungal therapy (flucytosine and amphotericin followed by fluconazole) and is on regular follow-up.

Bilateral massive nephromegaly-A rare presentation of t-cell acute lymphoblastic leukemia.

INTRODUCTION: Renal infiltration by leukemia causing massive bilateral nephromegaly is an extremely rare presentation of T-cell acute lymphoblastic leukemia(T-ALL). CASE REPORT: 18-month-old female toddler presented with fever and progressive abdominal distension of 4-6 weeks duration. Imaging revealed bilateral massively enlarged kidneys with normal excretion. Peripheral blood counts and smear examination was unremarkable and immunophenotypic evaluation of marrow was consistent with T-ALL. Chest imaging was unremarkable. She was started on modified Indian Childhood Collaborative Leukemia Group (ICiCLe) ALL protocol. Even with the best anti-tumor lysis syndrome (TLS) prophylaxis the child required two sessions of hemodialysis. An end-induction morphological remission & end-consolidation negative minimal residual disease (MRD) could be achieved. CONCLUSION: Bilateral massive nephromegaly is an extremely rare presentation of T-ALL. This case emphasizes the unusual presentation, need for prompt remediation of TLS, and most importantly the use of early intensification with four drug anthracycline & dexamethasone-based therapy for the treatment of T-ALL in children.

Osteoarticular melioidosis: a retrospective cohort study of a neglected disease.

INTRODUCTION: Patients with melioidosis can present with a combination of fever, respiratory distress and focal involvement. Focal involvement of bone and joint is, however, rare in patients with melioidosis. This study aimed to characterize patients with osteoarticular melioidosis. PATIENTS AND METHODS: This was a retrospective review of records of all adult patients diagnosed with culture-positive osteoarticular melioidosis over three years. The clinical, laboratory and treatment details were recorded in a predefined case-record form and analyzed. RESULTS: Of the 11 patients with osteoarticular melioidosis, 55% (n=6) had concurrent pulmonary involvement. The patients were classified as isolated osteomyelitis (n=3), isolated arthritis (n=3), and both osteomyelitis and septic arthritis (n=5). Of eight patients with joint involvement, 87.5% had monoarthritis. A single bone was involved in 75% of the patients with bone involvement (n=8). Concomitant myositis was seen in 36.4% (n=4) of the cases. Local debridement of the involved bone or joint was done in 54.5% (n=6) of the cases. Combination therapy with ceftazidime/meropenem and cotrimoxazole was predominantly used as intensive therapy for a mean of 3+1.3 weeks. Monotherapy with cotrimoxazole was used as eradication therapy for a mean of 4.6+2 months. Except for one patient with recurrent disease and one death, all patients were declared cured at the end of therapy. CONCLUSION: Osteoarticular melioidosis should be suspected in high-risk individuals from endemic areas with single bone or joint involvement and surrounding myositis. Early diagnosis and prompt initiation of therapy is key to a favourable response.