Malaysian Journal of Pathology

Effect of microplastics and nanoplastics in gastrointestinal tract on gut health: A systematic review
Tan YH, Mokhtar N, Raja Ali RA and Gew LT
Microplastics (MPs) and nanoplastics (NPs) are pervasive environmental contaminants with growing concerns about their ingestion through food and water sources. Although animal studies suggest adverse health effects, direct mechanistic evidence in human gastrointestinal (GI) systems remains limited. In vitro models using human GI cell lines and organoids offer a physiologically relevant platform for investigating the effects of MPs and NPs on human health. However, existing findings are fragmented and lack systematic synthesis. This systematic review aims to consolidate and critically analyse current evidence on the biological effects of MPs and NPs in human GI in vitro studies.
Utilisation of the Malaysian BRCA variants database to construct a target panel for biosensor-based genetic breast cancer screening
Hamzah NF, Mohd Zain Z, Lai MI and Hussin H
Breast cancer remains a significant health concern, particularly in Malaysia, where it stands as the most prevalent cancer among women. The BRCA, implicated in inherited breast cancer syndromes, has garnered considerable attention due to its role in tumorigenesis. Utilising next-generation sequencing and bioinformatic tools, researchers have compiled a comprehensive database of BRCA variants specific to the Malaysian population. This article reviews the distribution of these variants across different ethnic groups in Malaysia and explores their implications for biosensor development. By leveraging this database, researchers aim to construct biorecognition elements for electrochemical biosensors, enabling affordable and accessible genetic screening for breast cancer mutations. The article underscores the importance of adhering to technical standards and considering ethnic diversity in selecting biorecognition elements. Ultimately, the integration of Malaysian BRCA variants into biosensor technology holds promise for enhancing early detection and improving clinical management of breast cancer in the Malaysian population.
Risk stratification of pT1b urothelial carcinoma based on spatial relationships between invasive tumour and muscularis propria on TURB specimens for predicting muscle-invasive urothelial carcinoma in radical cystectomy: A new proposal
Kim JM and Park S
In bladder cancer, the presence of lamina propria invasion (pT1) poses a significant clinical challenge due to varied tumour behaviours and risk of disease progression. Efforts to substage pT1 urothelial carcinoma (UC) using diverse systems have been made, but challenges persist in accurately predicting disease progression. This study introduces a novel risk stratification approach focusing on pT1b UC cases based on the spatial relationship between invasive carcinoma and the muscularis propria (MP) in transurethral resection of bladder (TURB) specimens.
A case of large renal angiomyolipoma resulted in hydronephrosis
Phang WM, Tan JWD, Goh EH, Goh LL, Wong YP and Tan GC
Renal angiomyolipoma is one of the members of the perivascular epithelioid cell (PEC) tumour family. It has a characteristic triphasic morphology featuring varying proportions of dysmorphic blood vessels, smooth muscle cells, and mature adipose tissue. Large angiomyolipomas pose a risk of haemorrhagic complications.
Diagnostic accuracy of high-sensitivity troponin I in an accelerated protocol to assess 30-day outcomes among chest pain patients in the emergency department
Hasan PNS, Zahari Sham SY, Thambiah SC, Samsudin IN, Ismail I, Abdul Aziz AF, Anthonysamy C and Omar R
In Malaysia, acute coronary syndrome is the leading cause of hospitalisation. Identification of patients with low 30-day risk of major adverse cardiac event (MACE) may facilitate an early and safe discharge from overcrowding emergency departments (ED). This study aimed to determine the diagnostic accuracy of high-sensitivity-cardiac-troponin-I (hs-cTnI) for ruling out 30-day MACE among chest pain patients in ED.
Analysis of demographic differences according to histomorphological subtypes of 1312 cases of ameloblastoma
Siriwardena BSMS, Goh YC and Tilakaratne WM
Ameloblastoma is a benign but locally aggressive odontogenic tumour broadly divided into conventional, unicystic, peripheral, adenoid and metastasising types. The first three entities compose the majority and especially the conventional type which has different histopathological subtypes such as follicular, plexiform, acanthomatous, granular cell, basal cell and desmoplastic have been described. We report the largest series of ameloblastoma in a single study to analyse the demographic characteristics according to histopathological subtypes of ameloblastoma.
Multiplex ligation-dependent probe amplification (MLPA) assay: a single centre experience of MLPA assay for alpha thalassaemia diagnosis
Abdul Muttlib FA, Raja Sabudin RZA, Mohamed Ramli MH, Jalil N, Mohd Yasin N, Hassan S, Abdul Hassan FS, Alauddin H and Othman A
Individuals with alpha(α)-thalassaemia usually have evidence of microcytosis but showed normal haemoglobin A2 and F, except those with three or four gene deletions or those with abnormal Haemoglobin (Hb) such as Hb Constant Spring (HbCS). Definitive diagnosis requires molecular analysis. Multiplex amplification refractory mutation system (ARMS) and gap PCR are reliable for detecting common α-gene mutations; however, many rare or novel mutations remain unidentified. Using principle of primer-specific amplification, abnormality analysed is primer-dependent. This study aimed to compare the detection of HBA gene rearrangements by multiplex ligation-dependent probe amplification (MLPA) with multiplex PCR (ARMS and Gap).
Prevalence of lysosomal storage disease (LSD) in Malaysia
Omar A, Abdul Rahman S, Mohamed R, Amin Nordin FD, Mohamed Shakrin N, Mukhtaroh Nasohah S, Sallih NS, Abdul Azize NA, Abdul Wahab SA, Lua SH, Yakob Y, Mohamed WAS, Ahmad Noorden MS and Abdul Jalil J
Lysosomal storage disorders (LSD) are storage disorders involving the malfunction of degradation enzymes in the lysosome. This study aimed to calculate the birth prevalence and carrier frequency of LSDs in the Malaysian population, to compare our results with previously reported epidemiologic data from other populations, and to describe the mutation spectrum in Malaysia. Between 2008 and 2017, 2.1% (92/4338) of suspected patients were diagnosed with LSD. The prevalence of LSD and carrier frequency in Malaysia were 0.43 per 100,000 live births and 1 in 241, respectively. The combined prevalence of mucopolysaccharidoses (MPS) and its carrier frequency were 0.34 per 100,000 live births and 1 in 271, respectively. Among this MPS group, MPS II presented the highest calculated birth prevalence of 0.45 per 100,000 male live births with a carrier frequency of 1 in 236. Within the group of sphingolipidoses, the combined prevalence was 0.13 per 100,000 live births with a carrier frequency of 1 in 439. Fabry disease was the most common disorder with a calculated prevalence of 0.52 per 100,000 male live births and a carrier frequency of 1 in 220 followed by metachromatic leukodystrophy (MLD) (0.2 per 100,000 live birth and carrier frequency 1 in 352). MLD is more common among people of Iban ethnicity with a prevalence of 14.33 per 100,00 live births and a carrier frequency of 1 in 42. Pompe and mucolipidosis type II are the less common subtypes of LSD with a prevalence of 0.06 per 100,000 live births and a carrier frequency of 1 in 651 and 0.04 per 100,000 live births with carrier frequency of 1 in 747, respectively. Overall, although the prevalence of LSD in Malaysia may be underestimated, the prevalence of MPS is consistent with reports done in other Asian countries.
Subcortical bone marrow and deep marrow differences: A comparison in a series of 5 cases
Kahwash SB
This manuscript documents examples of bone marrow cores where subcortical spaces are significantly different in comparison with deep core spaces. The differences include significantly higher or lower cellularity in addition to discrepant involvement by malignant processes. While this phenomenon is generally familiar to practicing pathologists, it is not adequately illustrated in the medical literature. Publication of such illustrated examples may help generate more interest in this phenomenon as well as emphasise the constant need for adequate marrow specimens to avoid diagnostic pitfalls.
Podocyte infolding glomerulopathy: Clinical insights from two case studies in Malaysia
Che Jalil NA, Gnanasegaram HK, Mohamad Mokhtar E and Muhamad Hendri NA
Podocyte infolding glomerulopathy (PIG) is a rare glomerular disorder characterised by the infolding of podocytes into the glomerular basement membrane (GBM) with the presence of intramembranous cytoplasmic microspherules or microtubules. Most patients with PIG presented with nephrotic or subnephrotic proteinuria accompanied with microscopic haematuria. The condition is often associated with autoimmune diseases.
Silent killer - a case of sudden death linked to lymphocytic thyroiditis
Mohd Mussadik UKF, Zaki HS, Hasim HS and Chng KL
Sudden unexpected death (SUD) in a healthy young adult presents a challenging scenario that forensic pathologists often encounter. Although they are rare, thyroid diseases such as hyperthyroidism, hypothyroidism, and lymphocytic thyroiditis can contribute to SUD. Comprehensive investigations, including thyroid histological evaluation, are critical to identify underlying causes. This report discusses a rare case of lymphocytic thyroiditis in a young male who died unexpectedly, highlighting the forensic value of thyroid pathology in SUD cases.
AI-generated scientific papers: Is it acceptable?
Tan GC, Wong YP and Cheong SK
Causes of neonatal deaths in Malaysian neonatal intensive care units in 2015-2020: A descriptive study
Boo NY, Ang EBK and Ang EL
To investigate the major causes of neonatal deaths in Malaysian neonatal intensive care units (NICUs).
Abstracts of the International Convention of Forensic Medicine and Science (ICFMS) 2025: Forensic Anthropology, Odontology, and Radiology: Interdisciplinary Approach in Forensic Pathology, 2nd to 4th of July 2025, at Bayview Hotel, Georgetown, Penang
In Vitro multinucleated giant cell-like cells formation: An observation
Kok WX, Cheong SK and Leong PP
The formation of multinucleated giant cells (MGCs), is known to occur during chronic inflammations. However, the molecular mechanisms and cell signalling pathways by which they adhere are largely unknown. Most studies concerning the development of MGCs involve the stimulation of isolated monocytes or macrophages with infectious pathogens. However, such in vitro studies are limited, and the resulting MGCs do not accurately mimic MGC observed in vivo. In this report, we discuss an observation of the emergence of MGCs derived from umbilical cord blood in a modified methylcellulose culture.
The pattern of injuries in homicidal deaths: A retrospective study
Wan Razali WNH, Mohd Nor F and Shafee MS
Homicide is the deliberate act of causing death or injury, leading to the unlawful demise of an individual, with 464,000 homicide cases worldwide in 2017. In Malaysia, there is a lack of information on homicidal statistics and patterns, with most studies focusing on medicolegal autopsy practices. This research aims to study demography and fatal injury patterns.
Reduced dense granules in platelet by electron microscopy in a patient with abnormal platelet aggregation with ADP and arachidonic acid: A case report of delta storage pool disorder
Yusof N, Yousuf R, Othman NI, Abdul Aziz S, Mohd Pauzy LH and Abdul Aziz DA
Delta storage pool disease (δ-SPD) is a platelet function disorder due to the decreased number and contents of dense granules causing bleeding symptoms. Diagnosis of δ-SPD is a complex procedure due to the variability of test results in platelet aggregometry and also it requires specialised tests. Electron microscopy (EM) is a promising tool to help in the diagnosis of this disorder. We report here a rare case of δ-SPD confirmed by EM.
A benign appearing metastatic breast carcinoma to the mandible: A case report
Ibrahim N, Mahamad Apandi NI, Rosli N and Ramli R
Metastasis of breast carcinoma to the oral cavity is extremely rare as compared to metastasis to the lung and liver. The non-specific presentation of metastatic lesions clinically and radiographically also pose a diagnostic challenge. We present an interesting case of metastatic carcinoma to the right mandible which was provisionally diagnosed as a benign lesion of the alveolar ridge.
Evaluation of variant calling methods of sequencing data for BCR::ABL1 kinase domain mutation detection
Abu Seman Z, Ahid F, Kamaluddin NR, Mohd Sahid EN, Esa E, Muhamed Said SS, Azman N, Wan Mat WKD, Abdullah J, Ali NA and Mat Yusoff Y
Abstracts of the National Pathology Conference 2024: Towards Dynamic and Excellent Pathology Services, organised by the Negeri Sembilan Pathology Services, 2nd - 3rd October 2024, Klana Resort, Seremban, Negeri Sembilan
Abstracts of the 11th National Transfusion Medicine Conference 2024: Breaking Barriers and Empowering Changes, held on 13th to 15th September 2024 in Kota Kinabalu, Sabah