1.Orbital metastasis as a presenting feature of papillary thyroid carcinoma: Case report and literature review.
Armida L. SULLER-PANSACOLA ; Bea Therese D. BASCO ; Edwin Michael Joy B. PACIA ; Christine Joyce MINAS-SANTICRUZ ; Rolando A. LOPEZ ; Francis Paulo D. DIZON ; Alessa BATTISTINI-CASTILLO
Acta Medica Philippina 2025;59(Early Access 2025):1-14
A 61-year-old woman presented with a 2-month history of non-painful left eye proptosis. Imaging studies showed a superotemporal mass in the left orbit with intracranial extension. Surgical excision of the orbitocranial mass was performed and histopathologic examination revealed metastatic papillary thyroid carcinoma. She subsequently underwent total thyroidectomy. Orbital metastasis from thyroid carcinoma is rare and can be the initial manifestation of occult disease in 63% of cases.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Thyroid Neoplasms ; Thyroid Carcinoma ; Thyroid Cancer ; Papillary Thyroid Carcinoma ; Thyroid Cancer, Papillary
2.Hyalinizing clear cell carcinoma of the salivary gland in an elderly female: A case report supported by EWSR1 molecular studies.
Ariane Marielle F. VALLE ; Jose Louie D. REMOTIGUE ; Erick Martin H. YTURRALDE ; Jose M. CARNATE JR.
Acta Medica Philippina 2025;59(5):88-91
Hyalinizing clear cell carcinoma of the salivary gland is a rare neoplasm, accounting for only less than 1% of malignancies arising from the salivary gland. It is molecularly defined by the expression of the EWSR-ATF1 fusion oncogene. To date, there has been no previous studies published yet in the Philippines regarding the existence of this tumor. In this paper, we present a case of a 70-year-old elderly female who had a 10-year history of a gradually enlarging left lateral neck mass. Histopathologic examination showed a tumor arranged of cords, nests, and trabeculae of monomorphic round cells with abundant clear to lightly eosinophilic cytoplasm surrounded by thick hyalinized collagen bundles. Immunohistochemistry and molecular studies were done which revealed a positive p63 staining, negative SMA and S100, and an EWSR1 rearrangement in Fluorescence in situ hybridization (FISH), thus, confirming the diagnosis.
Human ; Female ; Aged: 65-79 Yrs Old ; Carcinoma ; Immunohistochemistry
3.Infiltrative basal cell carcinoma with nodal metastasis in a 74-year-old female: A case report
Reynaldo Gabriel Paulino ; John Ricardo Chua ; Karen Damian ; Erwin Gerard Geron ; Clarisse Veronica Mirhan
Philippine Journal of Pathology 2025;10(1):1-5
Basal cell carcinoma, the most common human malignancy, has a rare incidence of metastases ranging from 0.0028-0.55%. We report a case of a 74-year-old female with a 10-year history of an enlarging anterior thigh nodule. Wide resection and inguinal lymph node dissection revealed an infiltrative basal cell carcinoma with lymph node metastasis due to the presence of basaloid cells, limited peripheral palisading, loose stroma, extensive spread, perineural invasion and immunoreactivity to p40, BerEP4, and GATA3.
Human ; Female ; Aged: 65-79 Yrs Old ; Carcinoma, Basal Cell ; X-ray
4.Atypical metastatic presentation of sporadic clear cell renal cell carcinoma: Anindolent unilateral intranasal mass in a 60-year-old male with recurrent epistaxis
Eldimson Bermudo ; Jon Paolo Tan ; Randell Arias ; Al-zamzam Abubakar
Philippine Journal of Pathology 2025;10(1):37-42
Renal cell carcinoma (RCC) is notorious for its propensity to metastasize even after a prolonged period of remission following nephrectomy. The metastatic spread can occur months or even years after initial treatment, which necessitates a heightened level of clinical awareness and vigilance in patients with a history of renal malignancy, particularly who present with new or unexplained nasal symptoms. Although RCC most commonly metastasize to the lungs, bones and liver, its involvement in the nasal cavity is exceedingly rare, posing significant diagnostic challenges due to the non-specific nature of symptoms. We describe a case of metastatic renal cell clear cell carcinoma presenting with recurrent epistaxis and unilateral nasal obstruction. Immunohistochemistry studies play a crucial role in confirming the diagnosis and ruling out potential differential diagnoses, along with a comprehensive clinical history of the patient.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Clear Cell Renal Cell Carcinoma ; Carcinoma, Renal Cell ; Metastasis ; Neoplasm Metastasis ; Nasal Cavity ; Epistaxis
5.Familial adenomatosis polyposis associated papillary thyroid carcinoma- cribriform morular variant: A case report
Jennifer A. Winter ; Michelle C. Payagen ; Mathew B. Bawayan
Philippine Journal of Surgical Specialties 2025;80(1):20-23
Familial Adenomatous Polyposis (FAP) is a multi-tumoral syndrome that includes neoplasms in the duodenum, brain, pancreas and thyroid. The Cribriform Morular Variant (CMV) is a rare form of Papillary Thyroid Cancer seen in patients with FAP. Presented here is a 32 year old female who initially presented with an anterior neck mass followed years later by a rectal mass. She was diagnosed with FAP and colorectal adenocarcinoma and underwent total proctocolectomy with end ileostomy. She subsequently underwent a total thyroidectomy which revealed CMV Papillary Thyroid Carcinoma (CMV-PTC). Since FAP can have diverse presentations, a high index of suspicion is needed in order to make an earlier diagnosis to reduce potential morbidity and mortality. Papillary thyroid carcinoma can predate colonic polyposis. Identifying CMV-PTC early on can serve as an opportunity diagnose FAP early.
Human ; Female ; Adult: 25-44 Yrs Old ; Familial Adenomatous Polyposis ; Adenomatous Polyposis Coli ; Thyroid Cancer, Papillary ; Papillary Thyroid Carcinoma
6.Case report: Metastatic mucinous carcinoma of the appendix in a 33-year-old female.
Elvie Zeril Dr. ANTIOQUIA ; Nicole Allyson A. CHUA ; Regina Socorro L. BAGSIC
Philippine Journal of Internal Medicine 2025;63(2):161-166
BACKGROUND
Primary cancers of the appendix are rare, with an incidence of approximately 1.2 cases per 100,000 people per year and this tumor is difficult to diagnose preoperatively. The purpose of this paper is to present a rare case of metastatic mucinous carcinoma of the appendix and to provide a high index of suspicion to patients presenting with the same history, signs, and symptoms.
CASE SUMMARYWe present a case of a 33-year-old Filipina who reported abdominal pain and right lower quadrant mass. Following several preoperative diagnostic tests, a colonoscopy revealed synchronous tumors in various locations, prompting the need for an exploratory laparotomy to evaluate the abdomen. Histopathological examination was performed to confirm the final diagnosis which revealed primary mucinous carcinoma of the appendix. The tumor had extended into adjacent structures, including the cecal colon, ileum, and right ureter. Metastatic lesions were also identified in the descending and sigmoid colon. The disease was classified as stage IVC (T4b, N1c, M1c), indicating advanced progression with both extensive local invasion and distant metastasis.
CONCLUSIONHistopathology remains the gold standard for cancer diagnosis. Given the rarity and complexity of appendiceal mucinous carcinoma, a multidisciplinary approach is also essential. This collaborative strategy from various specialties is vital not only for achieving an accurate diagnosis but also for developing and implementing an effective, individualized treatment plan that addresses the distinct challenges of this uncommon malignancy.
Human ; Female ; Adult: 25-44 Yrs Old ; Neoplasm Metastasis ; Adenocarcinoma, Mucinous
7.Comparative copy number variation profiling of GL01, an immortalized non-small cell lung cancer cell line derived from a Filipino patient, and A549 lung adenocarcinoma cells.
Treena Rica D. TEH ; Kim Claudette J. FERNANDEZ ; Maria Katrina Diana M. CRUZ ; Patrick Gabriel G. MORENO ; Ruel C. NACARIO ; Gladys C. COMPLETO ; Francisco M. HERALDE III
Acta Medica Philippina 2025;59(10):37-51
BACKGROUND AND OBJECTIVES
Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease. However, commercially available cell lines are typically of Caucasian origin and may be less representative of the local genetic background. To address this, our lab previously immortalized cells from pleural fluid of a Filipino non-small cell lung cancer (NSCLC) patient via CDK4 transduction. Copy number variations (CNVs) are a type of genetic variation which may affect physiology and disease by disrupting gene function or altering gene expression, and in cancer, these may be associated with patient outcomes. CNV profiling can be valuable for understanding the biology of our immortalized cells and identifying genes that could serve as potential targets for diagnostic, prognostic, and therapeutic interventions. This study aimed to characterize previously immortalized NSCLC-derived cells, GL01, in comparison with an established lung adenocarcinoma (LUAD) cell line, A549, through whole-genome microarray-based copy number profiling.
METHODSDNA was extracted from GL01 and A549 cells using a commercially-available silica-based DNA extraction kit. DNA extracts were quantified and normalized for microarray analysis. Whole-genome copy number profiling was done using the OncoScan CNV Plus Assay following the manufacturer’s protocols, and data was analyzed using the Chromosome Analysis Suite software. Functional analysis of genes identified to be involved in copy number aberrations was done using the PANTHER Classification System.
RESULTSCopy number aberrations span 1,592,737,105 bp in GL01 and 1,715,708,552 bp in A549, with a high degree of concordance between the two. Large-scale and focal copy number aberrations previously identified to be recurrent in various LUAD cohorts were present in both GL01 and A549. Focal copy number aberrations associated with previously described lung cancer-related genes involve the PDE4D gene in GL01 and the SKIL and CDKN2A/CDKN2B genes in both GL01 and A549. PANTHER Pathway analysis of genes positively correlated with mRNA expression showed that the ubiquitin proteasome pathway was significantly overrepresented in both GL01 (FDR p = 0.000074) and A549 (FDR p = 0.000075), with 20 genes involved. Additionally, the KRAS:p.G12C/S:c.34G>T/A somatic mutation variant was detected in both GL01 and A549.
CONCLUSIONThis study provides a method for identifying potentially clinically-relevant genes associated with a sample’s copy number aberrations and the pathways they represent, providing personalized mechanistic, prognostic, and therapeutic insights into the cancer biology of our cells.
Human ; Carcinoma, Non-small-cell Lung ; Adenocarcinoma Of Lung
8.Effect of transarterial chemoembolization on the immediate health-related quality of life of patients with hepatocellular carcinoma in the Philippine setting.
Scott Riley K. ONG ; Glenn Marc G. IGNACIO ; Adovich S. RIVERA
Acta Medica Philippina 2025;59(10):30-36
BACKGROUND AND OBJECTIVE
Transarterial chemoembolization (TACE) is a locoregional therapy used in patients with unresectable intermediate-stage hepatocellular carcinoma (HCC). It has proven benefit on overall survival, but considerable side effects and potential complications may occur. Preservation of quality of life is a concern in many cancer-related therapies, and the same goal should apply in TACE. This study aimed to determine the effect of TACE on the immediate health-related quality of life (HRQoL) of Filipino patients with unresectable HCC.
METHODSA prospective observational survey study of 18 HCC patients who underwent TACE was conducted. HRQoL scores were measured using the validated EORTC QLQ-C30 and QLQ-HCC18 questionnaires, 1-2 days before and two weeks after TACE. Baseline clinical data, which included tumor characteristics, Child-Pugh score, and performance status score, were also obtained. Changes in HRQoL scores before and after TACE, and any association of demographic and clinical variables with HRQoL outcomes were assessed.
RESULTSPatients experienced overall decline in their global health status and functional scores with increase in their symptom scores after undergoing TACE. Statistically significant deterioration was observed in global health status (-13.9%), physical functioning (-23.0%), and role functioning (-31.4%). Alcohol users had lower global health status scores at baseline and follow-up, although there was no significant difference in the degree of decline in their post-TACE scores compared with non-alcohol users. Patients with BCLC stage C disease also had lower global health status scores at baseline, although scores were no longer significantly different from patients of other stages on post-TACE follow-up. Patients with BCLC stage B tumor experienced significant decline in their global health status scores. The presence of minimal ascites at baseline was associated with less deterioration in physical function scores after TACE. Largest and significant increases in symptomatology were seen for appetite loss (+41.1%), fever (+30.3%), fatigue (+28.5%), and general pain (+25.1%).
CONCLUSIONTACE can negatively affect the HRQoL of Filipino patients in the early phase after treatment, with significant deteriorations in global health status, physical, and role functioning, and increased severity in symptoms, especially appetite loss, fever, fatigue and pain. Knowledge of these changes should be used to improve patient care, compliance, and expectations.
Human ; Carcinoma, Hepatocellular ; Health-related Quality Of Life ; Quality Of Life
9.Malignant cardiac tamponade: A case report on rare initial presentation of non-small cell lung adenocarcinoma in a 59-year-old Filipino smoker.
Maria Karina PE ; Aura Kay GONZALES ; Erwin DIZON ; Jamie Lynn CO
Philippine Journal of Internal Medicine 2025;63(3):109-113
INTRODUCTION
Most cancer-related deaths globally are caused by lung cancer. The diagnosis is typically made following the evaluation of respiratory symptoms such as chronic cough or incidental finding of pulmonary lesions such as nodules and mass. Cardiac metastasis occurs in 2-18% of lung cancers, but cardiac tamponade complicating malignant pericardial effusion is an extremely rare and life-threatening initial presentation of non-small cell lung carcinoma.
CASE REPORTA 59-year-old-male with a smoking history of 72 pack-year presented at the emergency room with severe dyspnea and was assessed to be in cardiac tamponade. The patient arrested for 16 minutes but returned to spontaneous circulation after 650mL of serosanguinous fluid was removed by pericardiocentesis. The work-up for infectious and immunologic causes was negative. Chest CT scan with contrast did not reveal any pulmonary mass. However, the pericardial fluid cytology immunohistochemical stains pointed to a primary lung adenocarcinoma. PET scan was requested which confirmed hypermetabolic focus in the left lung base. included patients admitted at East Avenue Medical Center for DFU. The primary endpoint was major amputation of the lower extremities. Data were analyzed using Receiver Operating Characteristic (ROC) analysis and logistic regression.
CONCLUSIONThis case showed an extremely rare situation where life-threatening cardiac tamponade was the initial presentation of non-small cell lung adenocarcinoma, which highlights the need for vigilance in atypical presentation. Comprehensive diagnostic approach, including PET scans and cytologic analysis, must be done when standard imaging is inconclusive.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Cardiac Tamponade ; Adenocarcinoma Of Lung
10.Is non-contrast-enhanced magnetic resonance imaging cost-effective for screening of hepatocellular carcinoma?
Genevieve Jingwen TAN ; Chau Hung LEE ; Yan SUN ; Cher Heng TAN
Singapore medical journal 2024;65(1):23-29
INTRODUCTION:
Ultrasonography (US) is the current standard of care for imaging surveillance in patients at risk of hepatocellular carcinoma (HCC). Magnetic resonance imaging (MRI) has been explored as an alternative, given the higher sensitivity of MRI, although this comes at a higher cost. We performed a cost-effective analysis comparing US and dual-sequence non-contrast-enhanced MRI (NCEMRI) for HCC surveillance in the local setting.
METHODS:
Cost-effectiveness analysis of no surveillance, US surveillance and NCEMRI surveillance was performed using Markov modelling and microsimulation. At-risk patient cohort was simulated and followed up for 40 years to estimate the patients' disease status, direct medical costs and effectiveness. Quality-adjusted life years (QALYs) and incremental cost-effectiveness ratio were calculated.
RESULTS:
Exactly 482,000 patients with an average age of 40 years were simulated and followed up for 40 years. The average total costs and QALYs for the three scenarios - no surveillance, US surveillance and NCEMRI surveillance - were SGD 1,193/7.460 QALYs, SGD 8,099/11.195 QALYs and SGD 9,720/11.366 QALYs, respectively.
CONCLUSION
Despite NCEMRI having a superior diagnostic accuracy, it is a less cost-effective strategy than US for HCC surveillance in the general at-risk population. Future local cost-effectiveness analyses should include stratifying surveillance methods with a variety of imaging techniques (US, NCEMRI, contrast-enhanced MRI) based on patients' risk profiles.
Humans
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Adult
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Carcinoma, Hepatocellular/diagnostic imaging*
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Liver Neoplasms/diagnostic imaging*
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Cost-Effectiveness Analysis
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Cost-Benefit Analysis
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Quality-Adjusted Life Years
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Magnetic Resonance Imaging/methods*


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