• Role of Micro RNA Expression as Biomarker in Breast Cancer.
    3 months ago
    The most common cancer in women is breast cancer (BC). MicroRNA-21 was one of the first oncomiRs to be found at elevated levels in a number of malignancies, including gliomas, BC, and colorectal cancer (miR-21). MiRNA is associated with processes such as apoptosis, invasion, metastasis, and proliferation, which are known features of cancer. This study aimed to investigate the molecular basis and clinical significance of miR-21 in BC, as microRNAs play a critical role in this disease.

    MiR 21 was then analyzed by the quantitative polymerase chain reaction (qPCR) using the Taq-Man probe. The thermal profile included 5 min of denaturation at 95°C, then 40 cycles of denaturation at 95°C for 20 s, annealing at 52°C for 20 s, and extension at 72°C for 30 s. Two separate runs of real-time polymerase chain reaction and reverse transcription (RT) were then performed. Relative quantification of the gene expression levels (fold change) based on computed tomography values was used to examine the data from RT-qPCR for miR-21 and Glyceraldehyde-3-phosphate dehydrogenase (Livak and Schmittgen).

    The mean fold change in serum miR-21 levels was significantly higher in cases (8.17 ± 2.49) than in controls (1.02 ± 0.23). The mean fold change in serum miR-21 levels in Stages III, IV and lymph nodes were significantly higher than in Stages I and II. The mean fold change in serum miR-21 gene expression was significant with the changes in different Ki67 levels.

    Our results demonstrate the importance of miR-21 plasma level as a diagnostic and prognostic biomarker for BC.
    Cancer
    Care/Management
    Policy
  • Sunitinib and TB lymphadenitis: An unexpected link in oncological therapy: a case report.
    3 months ago
    Gastrointestinal stromal tumors (GIST) are neoplasms that originate from the interstitial cells of cajal located in the muscular layer of the gastrointestinal tract. Surgery is the primary treatment options; however, if resection is not feasible, or in cases of metastatic or recurrent GIST, systemic chemotherapy can be considered as an alternative. Sunitinib, a multi-targeted tyrosine kinase inhibitor, is indicated as an essential second-line treatment for GIST following disease progression or intolerance to imatinib mesylate. It works by slowing down or stopping the growth of tumor cells through the inhibiting tyrosine kinases, including KIT and PDGFRα. Commonly reported side effects of sunitinib include hypertension, fatigue, neutropenia, and dermatologic reactions such as rash.

    A patient diagnosed with relapsed malignant gastrointestinal stromal tumors (GIST) was treated with sunitinib for 15 months following the failure of imatinib treatment. The patient presented with neck pain and a fever of up to 38.8°C.

    Upon evaluation, a palpable lymph node was biopsied, and pathology results confirmed tuberculosis (TB) lymphadenitis. Subsequently, TB medication was initiated, and 2 months after starting the treatment, significant improvement in lymphadenopathy was observed on the computed tomography scan. However, the patient experienced side effects during the treatment, including hepatotoxicity, visual disturbances, and a decreased platelet count, which led to discontinuation and a change in medication.

    The treatment lasted for a year, which was longer than that initially planned. Despite switching to third-line therapy for GIST, the disease progressed, and the patient eventually died.

    Owing to the anti-angiogenic effect of sunitinb, infectious complications are very rare, and cases of tuberculosis-related side effects associated with sunitinib are almost unheard of. This case illustrates that TB lymphadenitis can occur as a rare adverse effect of sunitinib treatment.
    Cancer
    Care/Management
  • Multimodality treatment approach in a patient with EGFR-mutated NSCLC and leptomeningeal metastases: A case report and literature review.
    3 months ago
    Leptomeningeal metastases in pulmonary adenocarcinoma patients carrying epidermal growth factor receptor mutations present a critical therapeutic dilemma. However, there is no established standard therapy following drug resistance. Novel treatment modalities are urgently needed.

    We report a 62-year-old nonsmoking man who presented with multiple bilateral pulmonary nodules and underwent left lower lobectomy in October 2012.

    Pathological examination confirmed poorly differentiated adenocarcinoma with neuroendocrine differentiation, classified as clinical stage IV.

    The patient was initially treated with oral osimertinib; however, resistance developed after 6 months. Genetic analysis revealed an epidermal growth factor receptor exon 21 mutation. After a comprehensive treatment plan that included targeted therapy, radiotherapy, chemotherapy, and concurrent therapies. The patient achieved a total survival time of 28 months following the diagnosis of leptomeningeal metastases.

    The multimodality treatment method described in this case, incorporating whole-brain radiotherapy, intrathecal chemotherapy (dose escalation), and concurrent therapies, prolonged the patient's survival.

    Integrating a multimodal treatment plan that includes whole-brain radiotherapy and intrathecal administration of pemetrexed disodium could offer a promising treatment option for lung cancer patients with leptomeningeal metastasis.
    Cancer
    Chronic respiratory disease
    Care/Management
  • Distinct genetic abnormalities in cerebrospinal fluid versus tumor tissue and plasma in a SCLC patient with leptomeningeal metastasis: A case report.
    3 months ago
    Leptomeningeal metastasis (LM) in small cell lung cancer is rare, and the application of next-generation sequencing in these cases remains limited.

    This study presents a case of a small cell lung cancer patient who developed LM despite achieving a partial response in extracranial tumors. Notably, next-generation sequencing analysis of tumor tissue, blood, and cerebrospinal fluid (CSF) uniquely revealed an increased copy number of cyclin-dependent kinase 4 specifically in the CSF.

    A lumbar puncture was performed, and pathological examination of the CSF confirmed small cell carcinoma.

    The patient received intrathecal methotrexate therapy and was scheduled promptly for whole-brain radiation therapy.

    Unfortunately, the patient passed away at home 3 days after discharge.

    This case underscores the importance of prompt diagnosis of small cell lung cancer with suspected LM through CSF cytology obtained via lumbar puncture. It also highlights the potential of CSF as a valuable liquid biopsy medium for tracking disease progression and treatment response in central nervous system malignancies, providing a basis for the development of targeted therapeutic strategies.
    Cancer
    Chronic respiratory disease
    Care/Management
    Advocacy
  • Direct dacryoendoscopic probing and endonasal dacryocystorhinostomy for treatment of acquired dacryocystocele: A case series.
    3 months ago
    Acquired dacryocystocele is a rare condition in adults and is often associated with distal and proximal lacrimal drainage obstructions. While proximal obstruction has generally been presumed to be functional, this assumption has not been definitively confirmed in previous studies. In this case series, we report for the first time the use of direct dacryoendoscopic probing as both a diagnostic and therapeutic adjunct to endonasal dacryocystorhinostomy (DCR) in the management of acquired dacryocystocele.

    Three patients (1 male and 2 females; age, 66-88 years) presented with unilateral epiphora and medial canthal swelling. Symptom duration ranged from 2 weeks to 2 years. One patient exhibited bluish discoloration over the medial canthus; another had a history of nasal surgery and concomitant frontal sinus mucocele with sinusitis.

    All patients were diagnosed with acquired dacryocystocele based on clinical examination and imaging. Dacryoendoscopy confirmed complete mechanical common canalicular obstruction in each case.

    Each patient underwent endonasal DCR combined with intraoperative direct dacryoendoscopic probing to relieve the canalicular obstruction, followed by bicanalicular intubation.

    All patients achieved complete symptom resolution and demonstrated a widely patent rhinostomy on endoscopic follow-up at 6 months. No intraoperative or postoperative complications or recurrences were observed.

    This series suggests that mechanical common canalicular obstruction may be a key mechanism in the pathogenesis of acquired dacryocystocele. Incorporating direct dacryoendoscopic probing during DCR enables real-time identification and treatment of proximal obstruction, potentially improving surgical success and minimizing recurrence.
    Cancer
    Care/Management
  • Diffuse Hemispheric Glioma, H3 G34-Mutant With Prominent Perivascular Invasion in a Middle-Aged Man: A Case Report and Literature Review of Middle-Aged and Elderly Cases.
    3 months ago
    Diffuse hemispheric glioma, H3 G34-mutant (DHG), is a newly defined pediatric-type tumor in the 2021 WHO classification of central nervous system (CNS) tumors. DHGs harbor missense mutations at codon 35 of H3F3A (H3.3 G35R/V mutations) and exhibit diverse histopathological features, such as glioblastomas or CNS embryonal tumors. Regardless of histological variation, they demonstrate uniform immunohistochemical and molecular findings: Olig2 negative, ATRX loss, p53 positive, and MGMT promoter methylated. These tumors occur predominantly in the cerebral hemispheres of adolescents and young adults, while they are extremely rare in middle-aged and elderly individuals. Here, we report a middle-aged case of DHG with prominent perivascular invasion. The tumor initially demonstrated a focal glioblastoma-like area, whereas the recurrent tumor predominantly showed perivascular spread of spindle cells. We reviewed previously reported DHG cases in middle-aged and elderly patients and compared their clinicopathological features with those of adolescents and young adults.
    Cancer
    Care/Management
  • Dedifferentiated Chordoma Harboring a Novel KRAS (G13D) Hot Spot Missense Mutation and an Additional Novel RPSAP52-HMGA2 Fusion: A Case Study.
    3 months ago
    Dedifferentiated chordoma (DDC) is a rare subtype of chordoma, having a biphasic appearance, and is characterized by conventional chordoma juxtaposed with a high-grade sarcoma. The high-grade component varies from pleomorphic to fibrosarcomatous type. Several studies have been published in the literature highlighting the genetic mutations associated with conventional and poorly differentiated chordoma, however only one study has been published in the literature that included four cases of DDCs and has shown genetic alterations in p53, PTEN, RB, CDKN2A, and TERT promoter genes. There is no further molecular data available regarding DDCs. Hence, we have tried sequencing in our case of DDC which included 109 sarcoma-related genes covering all SNVs, insertions-deletions, and fusions. In our case, it is found to have a G13D mutation in the KRAS gene and a novel RPSAP52-HMGA2 fusion. Though, the clinical significance of these alterations is yet to be proven, it may help to better understand this entity.
    Cancer
    Care/Management
  • O-arm navigated excision and vertebroplasty of pediatric aggressive vertebral hemangioma with compressive myelopathy: A case report.
    3 months ago
    Vertebral hemangioma (VH) is the most common angiomatous tumor usually asymptomatic and is incidentally noticed on MRI. The incidence of VH is rare in the pediatric population. The extraosseous extension is termed an Aggressive Vertebral Hemangioma (AVH) and these often need surgical management. Intraoperative stereotactic navigation for tumor excision helps in planning- localizing the tumor and delineating its margins.

    A 14-year-old boy presented with thoracic myelopathy signs. The MRI scan suggests T1 and T2 hyperintense signals within the T6 vertebral body with extramedullary extradural space occupying the lesion. The CT scan showed a "polka dot" appearance. Preoperative endovascular embolization followed by surgical decompression with posterior instrumented stabilization under O-arm navigation and tumor excision was planned. Cystic extradural lesion excised and vertebroplasty done at T6 level. Histopathology slides confirmed hemangioma.

    The most common age of involvement is between 30 and 70 years it is rarely seen in the pediatric age group. To the best of our knowledge, fewer than 20 cases of pediatric aggressive vertebral hemangiomas have been reported. Based on a review of pediatric AVH only 4 patients have been treated with preoperative vascular embolization followed by surgical decompression and stabilization. O-arm navigated AVH excision and vertebroplasty has never been described in the literature; this being the first case. It also aids in the identification of tumor margins along with real-time monitoring of adequate resection.
    Cancer
    Care/Management
  • [How I treat pediatric chronic myeloid leukemia].
    3 months ago
    Pediatric chronic myeloid leukemia (CML) is more aggressive than adult CML, with unique molecular characteristics and a higher propensity for lymphoid blast crisis. The application of tyrosine kinase inhibitors (TKIs) has significantly improved the prognosis of pediatric CML. Based on international consensus and clinical experience, this article proposes standardized diagnosis and treatment recommendations for pediatric CML, covering initial therapy selection, efficacy evaluation, drug switching, and management of adverse effects. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is recommended only for patients with disease progression or failure of multiple lines of TKI therapy. For children newly diagnosed with CML in accelerated phase, high-dose imatinib or second-generation TKIs are recommended as first-line therapy. Those achieving optimal responses should continue maintenance therapy, while non-responders require switching to alternative TKIs and consider allo-HSCT. For blast-phase CML, induction therapy requires a combination of TKIs and chemotherapy, with allo-HSCT serving as the core curative intervention. This article highlights common but challenging problems (poor response, drug intolerance, and disease progression) in pediatric CML treatment using three typical cases, aiming to optimize treatment strategies. Furthermore, the goal of achieving treatment-free remission needs to be further addressed through multi-center clinical studies.
    Cancer
    Care/Management
  • Delayed diagnosis of advanced maxillofacial squamous cell carcinoma in a rural patient.
    3 months ago
    This case report discusses a female patient diagnosed with moderately differentiated squamous cell carcinoma (SCC) in the maxillofacial region. She presented with a persistent ulcer on the hard palate that had lasted for 1.5 years. The tumour showed extensive local and regional spread, affecting critical structures such as the orbit, infratemporal fossa and temporal lobe, along with significant bone destruction. Investigations revealed pulmonary involvement and mediastinal lymphadenopathy, making the tumour inoperable according to National Comprehensive Cancer Network guidelines due to the involvement of essential structures. Neoadjuvant chemotherapy was recommended for this patient. This case underscores the aggressive nature of advanced maxillofacial SCC and emphasises the need for early detection, timely evidence-based treatment and a multidisciplinary approach to enhance patient outcomes.
    Cancer
    Care/Management