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Mucinous cystadenocarcinoma of the breast with axillary lymph node metastasis: An entity with an unusual clinical course

Ma. Katherine Noelle Don ; Lara Mae Gonzales ; Elizabeth Ann Alcazaren ; Justine Alessandra Uy

Philippine Journal of Pathology.2024;9(1):46-51. doi:10.21141/PJP2024.09

This is a case of a 54-year-old, perimenopausal, Asian, woman, who presented with an enlarging left breast mass associated with whitish to bloody nipple discharge. A core needle biopsy, done in another institution, showed histologic findings of a mucinous carcinoma with triple negative “basal-like” biomarker status (ER, PR, HER2/neu). Six cycles of neoadjuvant chemotherapy were given after which the subsequent modified radical mastectomy revealed a centrally located, 10.0 cm, well-circumscribed, nodular, ovoid mass on gross examination. Microscopic findings showed tall columnar cells in stratification, tufts and papillary formations, with surrounding abundant extracellular mucin. The individual tumor cells exhibit enlarged, hyperchromatic, basally located nuclei with prominent nucleoli, abundant amphophilic and occasionally oncocytic cytoplasm which contains intracytoplasmic mucin. Based on the histologic features, “basal-like” biomarker expression, and additional immunohistochemical studies (positive CK7, negative CK20 and CDX2), this case demonstrates a pure mucinous cystadenocarcinoma of the breast. In addition to the rare histologic type, this case is exceptional since, despite multiple cycles of neoadjuvant chemotherapy, presence of extensive lymphovascular invasion and axillary lymph node involvement with extranodal extension remain evident.
Cystadenocarcinoma, Mucinous ; Breast Neoplasms

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Prevalence of Somatic BRCA1 and BRCA2 mutations in ovarian cancer among Filipinos using next generation sequencing.

Charles Joseph Bernardo ; Claire Anne Therese Hemedez ; Jose Jasper Anda ; Rubi Li ; Yancel Mascardo ; Alizza Mariel Espiritu ; Josephine Matudan Babida ; Daphne Ang

Philippine Journal of Pathology.2023;8(1):9-12. doi:doi.org/10.21141/PJP.2023.05

INTRODUCTION: Ovarian cancer is one of the leading causes of mortality in women. In 2020, 5,395 (6.2%) of diagnosed malignancies in females were ovarian in origin. It also ranked second among gynecologic malignancies after cervical cancer. The prevalence in Asian /Pacific women is 9.2 per 100,000 population. Increased mortality and poor prognosis in ovarian cancer are caused by asymptomatic growth and delayed or absent symptoms for which about 70% of women have an advanced stage (III/IV) by the time of diagnosis. The most associated gene mutations are Breast Cancer gene 1 (BRCA1) which is identified in chromosome 17q21 and Breast Cancer gene 2 (BRCA2) identified in chromosome 13. Both proteins function in the double-strand DNA break repair pathway especially in the large framework repair molecules. Olaparib is a first-line drug used in the management of ovarian cancer. It targets affected cells by inhibition of poly (ADP-ribose) polymerase (PARP) activity which induces synthetic lethality in mutated BRCA1/2 cancers by selectively targeting tumor cells that fail to repair DNA double-strand breaks (DSBs). OBJECTIVE: The study aims to determine the prevalence of pathogenic somatic mutations in BRCA1 and BRCA2 among patients diagnosed of having ovarian cancer, to characterize the identified variants into benign/ no pathogenic variant identified, variant of uncertain significance (VUS), and pathogenic, and to determine the relationship of specific mutations detected with histomorphologic findings and clinical attributes. METHODOLOGY: Ovarian cancer tissues available at the St. Luke’s Medical Center Human Cancer Biobank and formalin-fixed paraffin-embedded (FFPE) tissue blocks diagnosed as ovarian cancer from the year 2016 to 2020 were included. Determination of the prevalence of somatic BRCA1 and BRCA2 mutations using Next Generation Sequencing (NGS). RESULTS: A total of 60 samples were processed, and three samples were excluded from the analysis due to an inadequate number of cells. In the remaining 57 samples diagnosed ovarian tumors, pathogenic BRCA1/2 variants were identified in 10 (17.5%) samples. Among the BRCA1/2 positive samples, 3 (5.3%) BRCA1 and 7 (12.3%) BRCA2 somatic mutations were identified. CONCLUSION Identification of specific BRCA1/2 mutations in FFPE samples with NGS plays a big role in the management of ovarian cancer, particularly with the use of targeted therapies such as Olaparib. The use of this drug could provide a longer disease-free survival for these patients. Furthermore, we recommend that women diagnosed with ovarian cancer should be subjected to genetic testing regardless of the histologic subtypes or clinical features. Lastly, genetic testing should be done along with proper genetic counseling, especially for patients who are susceptible to these mutations.
ovarian cancer

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Baseline complete blood count and cell population data as prognostic markers for in-hospital mortality among COVID-19 patients admitted at the Philippine General Hospital from March 2020 to January 2022.

Bien Angelo Kuizon ; Karen Damian ; Emilio Villanueva III

Philippine Journal of Pathology.2023;8(1):13-20. doi:doi.org/10.21141/PJP.2023.04

INTRODUCTION: Complete blood count (CBC) and cell population data (CPD) are hematologic parameters used in several clinical scenarios including infection and neoplastic processes. In the setting of COVID-19 infection, there is relative paucity of data in their use as possible prognostic markers. OBJECTIVE: We aim to evaluate the utility of the baseline CBC and CPD as prognostic markers for in-hospital mortality among COVID-19 patients admitted in Philippine General Hospital from March 2020 to January 2022. METHODOLOGY: This is a case-control study. Expired patients served as cases, and recovered patients served as controls. Data from eligible patients including age, sex, admitting COVID diagnosis with severity, final disposition, baseline CBC and CPD results were collected from the hospital medical records and hematology section of the Department of Laboratories. Statistical analyses were done to determine the prognostic value of these parameters for in-hospital mortality. RESULTS: Among the different CBC and CPD parameters, the study shows total white blood cell (WBC) count, absolute neutrophil count (ANC), absolute eosinophil count (AEC), and neutrophil-lymphocyte ratio (NLR) were statistically significant predictors for in-hospital mortality. For total WBC count, at a cut off 9.9 x 10 9 /L, the sensitivity and specificity is 70.9% and 66.2%, respectively. For ANC, at a cut off of 7.3 x 10 9 /L, the specificity is 76.4% and the specificity is 68.2%. At a cut off of 7.62, the NLR shows a sensitivity of 76.4% and specificity of 70.1%. For AEC, at a cut off of 0.006 x 10 9 /L, the sensitivity is 53.3% and the specificity is 87.3%. AEC predicts towards the direction of survival rather than to the direction of in-hospital mortality. CONCLUSION The total WBC count, ANC, and NLR were statistically significant predictors for in-hospital mortality, while AEC predicts towards the direction of survival. The sensitivities and specificities of the cut off for these parameters were less than ideal. Correlation with clinical and other laboratory parameters is still recommended. For future studies, the authors recommend monitoring CBC and CPD parameters at different time points during the patients’ hospital course.
COVID-19 ; hematology ; blood cell count ; complete blood count ; prognosis

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Profiling of genetic mutations among adult Filipino patients diagnosed with Acute Myeloid Leukemia using fluorescence in situ hybridization from 2014 to 2021: A single-institution study.

Aaron Pierre Calimag ; Januario Antonio Veloso, Jr.

Philippine Journal of Pathology.2023;8(1):21-26. doi:doi.org/10.21141/PJP.2023.06

INTRODUCTION: Among patients with Acute Myeloid Leukemia (AML), the karyotype at diagnosis is an important prognostic indicator for predicting outcomes. Several studies have been done to identify the most common cytogenetic abnormalities seen in patients in other countries, however, limited studies have been done in our setting. OBJECTIVE: The study aims to determine the most common abnormalities present among patients with AML referred for Fluorescence in situ Hybridization (FISH) at the National Kidney and Transplant Institute. METHODOLOGY: The study included 131 adult patients with a mean age o 46. Fluorescence in situ Hybridization was used to identify the following cytogenetic abnormalities: t(8;21), 11q23 (MLL), 16q22 (CBFB-MYH11), t(15;17) (PML/RARA), t(9;22) (BCR/ABL), 7q31 deletion, and Monosomy 7. RESULTS: FISH was negative in 40% (n=53) of patients. 7q31 deletion is the most frequently identified cytogenetic abnormality among patients with a single abnormality (n=17, 13%) present and is the most frequently identified abnormality among patients with multiple abnormalities (n=26). 7q31 deletion is more frequently observed among patients between the ages 51 to 60 years old and among patients with AML with monocytic differentiation. 22% (n=29) of patients have multiple abnormalities, with the most common abnormalities to occur together are 7q31 deletion and t(8;21) (n=20, 15%). Patients with negative results and patients with multiple cytogenetic abnormalities are commonly seen within the 41 to 50 age group. CONCLUSION The current study provides a single-institution view of the cytogenetic abnormalities among adult Filipino patients with AML using FISH. Further investigation on the clinical history of these patients, with correlation with other methods, as well as epidemiologic studies are needed to better understand the similarities and differences seen from previously reported incidences.
acute myeloid leukemia ; fluorescence in situ hybridization ; cytogenetics ; profiling ; hematology ; Filipino

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Evaluation of the effectiveness of Lean Six Sigma Approach for SARS-CoV-2 RT-PCR Turnaround Time (TAT) improvement at a hospital-based tertiary laboratory.

Dian Lagamayo ; Rose Lou Marie Agbay ; Sarah Jane Datay-Lim

Philippine Journal of Pathology.2023;8(1):27-31. doi:doi.org/10.21141/PJP.2023.03

OBJECTIVES: This study aims to evaluate the effectiveness of the Lean Six Sigma approach in improving procedure for (TAT) of reverse transcriptase polymerase chain reaction (RT-PCR) for SARS-CoV-2 testing at The Medical City. Specific objectives of the study are to determine the following: 1) baseline sigma and average TAT (in hours); 2) post-implementation sigma and average TAT (in hours) 3) compare if there is a significant improvement between baseline and post-implementation sigma and average TAT (in hours) 4) effect on workflow efficiency. METHODOLOGY: Lean Six Sigma method for quality improvement was applied using DMAIC: Define, Measure, Improve, and Control. The root causes identified were lack of manpower, equipment, space, and manual and complex processes. Then, process wastes were identified, and corresponding proposed solutions were sustained in the control phase, such as standardization and the use of automation. Measurement of turn-around time and six sigma of the process were performed for evaluation. RESULTS: Results showed a significant improvement in the TAT in RT-PCR results, with most results released within 24 hours. The pre-Lean Six Sigma data on TAT were as ollows: 24.88% released within 24 hours; 65.14% released within 24-48 hours; 3.56% released within 48-72 hours, and 6.42% released in more than 72 hours. The post Lean Six Sigma TAT were as ollows: 95.32% released within 24 hours; 4.29% released within 24 to 48 hours; 0.13% released within 48-72 hours, and 0.12% released more than 72 hours. The computed sigma post-implementation was increased from 3.56 to 4.82. The p-value was calculated using the chi-square test, and the computed chi-square statistic is 1894.1021. The p-value is <0.00001 and the result is significant at p<.05. Although there is a significant decrease in the volume of samples post implementation due to the changing COVID-19 situation, real time TAT was improved. It also resulted to increased workflow efficiency with the use of lesser manpower with more appropriate utilization. CONCLUSION Applying the Lean Six Sigma method to improve quality processes in the laboratory is shown to be practical, cost-effective, and straightforward.
Lean Six Sigma ; SARS-CoV-2

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SARS-CoV-2 RT-PCR Ct Value and Laboratory Tests: Clinicopathologic characteristics among adult Filipino Inpatients diagnosed with COVID-19 in a tertiary medical center.

Carolyn Marie Legaspi ; David Jerome Ong ; Jose Inigo Remulla ; Rose Lou Marie Agbay

Philippine Journal of Pathology.2023;8(1):32-40. doi:doi.org/10.21141/PJP.2023.07

INTRODUCTION: The role of the laboratory during the COVID-19 pandemic is not limited to just diagnosis of the disease, but also in clinical decision-making, by providing information on relevant laboratory biomarkers. Clinicians also use Ct value to guide patient management. There are limited studies available locally regarding the significance of Ct value and pertinent laboratory biomarkers in COVID-19 patients. This study aimed to assess the aforementioned laboratory data, along with the clinicopathologic characteristics of affected patients, and determined if this information may be useful for robust clinical decision-makin METHODOLOGY: In this retrospective analytic study, we identified 325 out of 1,049 adult Filipino inpatients diagnosed with COVID-19 and analyzed their Ct values and pertinent laboratory biomarkers such as neutrophil and lymphocyte count, platelet count, LDH, ferritin, procalcitonin, CRP, AST/SGOT, ALT/SGPT, PT/ INR, and D-dimer, and correlated them with the severity of the disease. RESULTS: Two hundred twenty (67.7%) patients had non-severe disease, while 105 (32.3%) had severe disease. Lower Ct values of ORF1ab (median = 26.4) and N (median = 24.8) genes were seen in the severe group compared to the non-severe group and were found to be significant (p<0.001). Laboratory markers (neutrophil, platelet counts, LDH, ferritin, procalcitonin, CRP, AST, PT/INR, and D-dimer) were associated with severe COVID-19. On the other hand, ALT was not associated with severe disease. CONCLUSION The laboratory biomarkers together with Ct value and overall clinical picture may provide valuable information to physicians for more robust clinical decision-making.
COVID-19 ; laboratory biomarkers ; SARS-CoV-2 ; RT-PCR

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RUNX1::RUNX1T1 Fusion in Pediatric Acute Myeloid Leukemia: A description of two cases.

Jill Jaime ; Ivy Mae Medalla ; Steffanie Charlyne Tamayo ; Qareem Pido ; Francisco Tria IV ; Ma. Luisa Enriquez ; Jean Kamil Sy ; Reynaldo De Castro Jr. ; Daphne Ang

Philippine Journal of Pathology.2023;8(1):42-48. doi:doi.org/10.21141/PJP.2023.02

RUNX1::RUNX1T1 is a core-binding factor driving fusion gene which arises from t(8;21)(q22;q22). It is one of the most common chromosomal rearrangements in both pediatric and adult Acute Myeloid Leukemia (AML) with a reported incidence o 15% in children and young adults. There are few case reports documenting RUNX1::RUNX1T1 translocation in pediatric AML. Although this is generally associated with a favorable prognosis, we report two (2) cases of de novo pediatric AML in the Philippines harboring a RUNX1::RUNX1T1 translocation, one eventually relapsed while the other attained remission but succumbed to sepsis.
Next Generation Sequencing ; RUNX1::RUNX1T1 fusion

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Ethical concerns and recommendations for sharing anatomic pathology images in online social media networks

Christine Mae Olivar

Philippine Journal of Pathology.2023;8(2):6-11. doi:https://doi.org/10.21141/PJP.2023.12

Anatomic pathology is a field that relies on visual examination to provide diagnosis. Photos of specimens and microscopic slides play an important role in pathology education. With the internet, sharing and seeing images from different patient cases has become efficient and accessible. However, ethical concerns may be raised since patient images are used for academic purposes in a public setting. Proper de-identification, informed consent and setting professional guidelines for sharing pathology images are suggested.
Pathology ; Social Media ; Ethics ; Policy

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Impact of the COVID-19 pandemic on blood supply: A comparative cross-sectional study of the pre-pandemic and pandemic era

Johnmerson Yap ; Ma. Theresa Fedoc-Minguito

Philippine Journal of Pathology.2023;8(2):1-6. doi:https://doi.org/10.21141/PJP.2023.11

Objective: The study aimed to determine the impact of the COVID-19 pandemic on local blood supply management in the Davao Region, Philippines from 2019 to 2021 through the analysis of trends in blood supply in Davao Region, Philippines. Methodology: Secondary data from two blood centers in the Davao Region for the years 2019 to 2021 were used to determine the trends on blood donation supply. To evaluate trends, the overall number of blood donors and the quantities of various types of blood components in whole blood, packed red blood cells (PRBCs), fresh frozen plasma (FFPs) and platelet concentrate have been compared between pre-pandemic, pandemic periods and as restrictions eased. Results: A substantial decrease of 51.6% in the number of blood donors was seen during 2021 in comparison with 2019. The trend in collection by blood components also showed a significant trend from 2019 to 2021, whole blood (200.8%), packed RBCs (37.1%), fresh frozen plasma (113.6%). While the platelet concentrate supply declined by 34.9% from 2019 to 2020, an increase of 10.7% was noted onwards to 2021. Conclusion The results demonstrate that during the COVID-19 pandemic, there was a major reduction in donation and supply of blood. The challenges faced by blood banks in ensuring a stable and sufficient blood supply are highlighted by the decrease in the number of donors and by the different trends in the supply of blood components. The targeted efforts to promote blood donation and enhance the resilience of the blood supply during and after the pandemic is important.
Blood Donors ; Philippines ; Plasma

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Needs assessment for establishment of telepathology in the Philippines

Christine Mae Olivar ; Godofredo II Inciong ; Paul Fontelo

Philippine Journal of Pathology.2023;8(2):18-24. doi:https://doi.org/10.21141/PJP.2023.16

Objective: The Philippines has more than a hundred ten million population with a very limited number of general pathologists and subspecialist pathologists. Consultation of pathologists with other pathologists is important to ensure accurate results for difficult cases. However, pathologists are not always accessible to review slides. Telepathology can provide access to other pathologists by sending microscopic images through the internet. This study explores the needs of pathologists for consultation in their practice that may be aided by telepathology. The status of current pathology practice and subspecialty consultations across the different regions in the Philippines were determined and the readiness of pathologists for telepathology was identified. Methodology: This is a cross-sectional descriptive study using an 18-item online survey questionnaire based on the World Health Organization guidelines on needs assessment for medical devices. The survey was distributed among anatomic pathologists practicing in the Philippines. Results: One hundred forty (140) pathologists responded and were included in this study. 5-10% of cases of respondents required subspecialty referral. Diagnostically challenging cases and confirmation of malignancy are the most common reasons for consultation. Respondents practicing outside the National Capital Region (NCR) have fewer subspecialist pathologists available for referrals within their region. Turnaround times for signing out challenging cases are longer outside NCR (>7 days) compared to NCR (4-7 days). Most respondents have access to the basic equipment to perform telepathology, which includes, an internet link, a smartphone with high-resolution camera and a computer. Almost all respondents will use telepathology if it is available. Conclusion A hub-and-spoke telepathology network can provide access to subspecialty consultation to reduce the diagnostic turnaround time and to increase the accuracy of results for challenging cases. The availability of the minimum telepathology infrastructure and the positive attitude of the pathologists towards telepathology may be indicators of readiness for a local telepathology system in the Philippines.
Telepathology ; Philippines ; Pathology ; Needs Assessment ; Telemedicine

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