Malaysian Journal of Pathology最新文献

Background: Ubiquitously Transcribed Tetracopeptide Repeat on X Chromosome (UTX) and Jumonji Domain-Containing Protein 3 (JMJD3) are histone H3 lysine 27 (H3K27) demethylases that are found to play tumour suppressor or oncogenic roles in many cancers. However, their roles in urothelial carcinoma (UC) have not been well studied.

Objective: This study investigated UTX and JMJD3 protein expression patterns in UC and assess their clinical significance.

Patients and methods: Immunohistochemistry (IHC) method was performed on formalin-fixed paraffin-embedded (FFPE) of UC tissues and compared to the normal bladder tissues from the autopsy specimen. The staining intensity of FFPE tissues were captured with the nuclear and overall positive pixels quantified using Aperio ImageScope software.

Results: JMJD3 protein uptake was present in both nucleus and cytoplasm but UTX protein was predominantly seen in the cytoplasm of UC tissue. UTX was under expressed whereas JMJD3 was over expressed in UC compared to normal bladder. UTX and JMJD3 were not related to clinical stage and grade. However, significant association between JMJD3 expression and invasiveness of tumour (p<0.05) was noted, especially in MIBC group (88.9%). UTX and JMJD3 did not yield any significance as prognostic factors for diseasespecific survival.

Conclusions: Low expression of UTX protein in UC may indicate possible loss of its tumour suppressor activity and higher JMJD3 protein expression may indicate oncogenic activity. Hence, JMJD3 protein could be a potential diagnostic biomarker in detecting bladder UC of higher stages. Further investigation needed to study the dysregulation of this protein expression with associated gene expression.

Introduction: A 1-year-old Malay girl presented with pallor, failure to thrive and hepatosplenomegaly. Her blood was sent for thalassaemia screening and it was incidentally found that her blood appeared lipaemic.

Case report: Primary and secondary causes of hyperlipidaemia were investigated. Her blood was sent for fasting lipid profile, thyroid function test (TFT), fasting plasma glucose (FPG), liver function test (LFT), renal profile (RP) and HIV screening. Lipaemic interference was removed by high-speed centrifugation. She is a product of non-consanguineous marriage. She is staying together with her stepfather who is HIV positive. Her mother's infective status was negative with no dyslipidaemic features and a normal lipid profile. Lipid profile of her biological father was not known. No other lipid stigmata such as eruptive xanthoma or lipaemia retinalis was seen in the patient. Haemoglobin analysis showed Hb E-Beta thalassaemia major. Her triglycerides was 9.05 mmol/L with normal total cholesterol, 2.85 mmol/L and high-density lipoprotein cholesterol (HDL-c), 0.26 mmol/L. Calculated low-density lipoprotein cholesterol (LDL-c) was invalid as triglycerides was >4.5 mmol/L. TFT, RP, FPG, LFT were normal and HIV status was negative. She was transfused with 10 ml/kg packed cell and her blood post transfusion appeared non lipaemic.

Conclusion: Primary hypertriglyceridaemia was excluded based on insignificant family history of dyslipidaemia. Secondary causes of hypertriglyceridaemia were ruled out based on unremarkable laboratory investigations. Thus, we conclude that this patient is having hypertriglyceridaemia thalassaemia syndrome (HTS) which is a rare disorder with unknown pathogenesis. Further research may be required to explore this unknown association.

Introduction: Oral candidiasis is one of the most common fungal infections that has been widely reported around the world. In Malaysia, the available studies for this infection are scarce.

Materials and methods: This is a 20-year retrospective study aimed to investigate the prevalence, demographic characteristics, clinical presentations, and the association of oral candidiasis with clinical parameters in oral candidiasis cases reported in the Faculty of Dentistry, Universiti Malaya from 1999 until 2019. A total of 12,964 histopathological records from the Oral Pathology Diagnostic and Research Laboratory (OPDRL) between 1999 to 2019 were retrieved. Oral candidiasis cases were selected according to the inclusion and exclusion criteria. Information of interest was obtained and analysed.

Results: From the total records retrieved, 378 oral candidiasis cases were recorded and 82.8% were diagnosed from smear test. This study showed that oral candidiasis was predominantly reported in female (64.2%) and Indian population (64.2%). The peak incidence was in the sixth decades of life (27.0%). The most commonly affected site was tongue and coated tongue was the most common clinical presentation. More than 50% of the cases had comorbidity and 10.6% were associated with dentures. Ethnicity and site of occurrence were significantly associated (p<0.05) with oral candidiasis.

Conclusion: This is the first large-scale study of oral candidiasis cases in Malaysia. The findings of this study are useful for clinical assessment of patients suspected of oral candidiasis.

Introduction: Hepatocellular carcinoma is the most common primary liver malignancy, and sarcomatoid hepatocellular carcinoma is a rare malignancy containing both carcinomatous and sarcomatous components.

Case report: We report a 64-year-old male patient treated with open right trisectionectomy for a 16cm right hemiliver tumour. The diagnosis of sarcomatoid hepatocellular carcinoma was confirmed on histology. Five months after hepatic resection, patient had symptoms suggestive of Horner's syndrome along with left sided shoulder pain, hand weakness, reduced power of the intrinsic hand muscles and reduced pain perception over the C8/T1 dermatome. Magnetic Resonance Imaging (MRI) showed a mass at the left lung apex/superior sulcus involving the left C8, T1 nerve roots, scalene muscles, and brachial plexus. The mass closely abutted the left first rib and partially encased the left subclavian artery. The patient was managed with palliative chemoradiotherapy for Pancoast syndrome.

Discussion: Hepatocellular carcinoma pulmonary metastasis causing Pancoast syndrome is a rare occurrence with only four prior reports, and to the best of our knowledge, pulmonary metastasis from sarcomatoid hepatocellular carcinoma causing Pancoast syndrome is unreported. In this report, we will discuss the clinicopathological characteristics of this case which may provide insight into diagnosis and management of other sarcomatoid hepatocellular carcinoma patients.

Anti-nuclear antibody test (ANA) is the test commonly requested for the working diagnosis of systemic autoimmune rheumatic diseases (SARDs) particularly in ANA-associated rheumatic diseases (AARDs) such as SLE, systemic sclerosis, Sjogren syndrome, mixed connective tissue diseases, and dermatomyositis. Dense fine speckled (DFS) pattern is an ANA fluorescence pattern that is commonly encountered in laboratories. This pattern is largely detected among the healthy population and in non-SARDs patients. Although this pattern is still can be observed among SARDs patients, the low prevalence of monospecific or isolated anti-DFS70 antibodies makes it useful for ruling out AARDs diagnosis. Thus, the inclusion of anti-DFS70 antibodies is perhaps logical for the exclusion of SARDs/AARDs. This review provides evidence of the prevalence of anti-DFS70 antibodies in different populations including healthy individuals, patients with SARDs and non- SARDs. The algorithm that includes the detection of anti-DFS70 antibodies during ANA screening is also suggested.

No abstract available.

Introduction: Telomeres shorten with cell cycling but are restored above mortality threshold in many cancers making them potentially exploitable for differentiating malignant from benign tissues, and for cancer evaluation.

Materials and methods: We assessed telomeres in a diagnostic histopathology setting using quantitative fluorescence in situ hybridisation on 33 fibroadenoma (FA) and 73 invasive breast carcinoma of no special type (IBC-NST) (prototypes of benign and malignant breast tumours, respectively) with paired benign, non-lesional breast tissues (BNL). Telomere lengths were expressed as telomere/chromosome-2-centromere ratio (TCR). The telomere length cut-off for malignancy was also determined.

Results: Mean TCR of IBC-NST was significantly shorter than FA and BNL (p<0.001). Mean TCR of FA was shorter than BNL but not significantly (p>0.05). TCR cut-off for IBC-NST based on FA was ≤0.29 (sensitivity=75.3%; specificity=78.8%), and ≤0.30 based on BNL (sensitivity=76.7%; specificity=89.0%). TCR of IBC-NST did not differ in relation to histological grade, nodal and hormonal status (p>0.05) but was significantly shorter in HER2-overexpressing cancers (p<0.05).

Conclusion: We have demonstrated a first-step to the development of methodologybased cut-off values of mean telomere length for distinguishing benign from malignant breast tissues. Telomere length may not value-add to the standard prognostic and predictive parameters, but has potential in relation to HER2.

No abstract available.

Lymphomas are prevalent worldwide and a common malignancy reported in Malaysia. Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of B-cell lymphomas accounting for 54% to 65% of all B-cell lymphomas and 39% to 57% of all malignant lymphomas. However, DLBCL comprises a heterogeneous group of diseases with different clinical presentations, biology and response to treatment. Recent advances in understanding the genetic landscape and molecular features of DLBCL have identified high-risk subsets with poor outcomes to chemo-immunotherapy that are actively being studied in various clinical trials. C-MYC is a proto-oncogene located in chromosome 8q24. 10 to 15 % of patients with newly diagnosed DLBCL have an underlying rearrangement of the MYC oncogene, resulting in dysregulated cellular survival and proliferation. Approximately half of these cases also carry a rearrangement of the anti-apoptotic proto-oncogene BCL2 and/or its transcription repressor BCL6. Over 20 case reports of DLBCL cases with notable features in Malaysia have found in the literature, in addition to a few extensive case series and included in this review. R-CHOP remains the mainstay of therapy and can help achieve control of long-term disease in nearly 90% of patients presenting with limited-stage and in up to 60% of those presenting with advanced stages. This review captures all 52 studies that reported DLBCL in Malaysia and summarises the essential aspects, including prevalence, subtype, prognostic markers clinical features in presentation and limited outcomes of cases when available.

Introduction: Desmoid fibromatosis is a multifactorial disorder classified as a category of intermediate, locally aggressive behaviour, which might be associated with CTNNB1 or APC mutations, trauma, surgery, or pregnancy.

Case reports: We present two cases of postoperative intra-abdominal desmoid fibromatosis. The first case occurred 14 months after the resection of a retroperitoneal gastrointestinal stromal tumour. The second case was located in the mesentery, as evidenced on an 18-month followup after a laparoscopy-assisted anterior resection for adenocarcinoma at the rectosigmoid junction. Under the clinical diagnosis of recurrence, tissue excisions were conducted. Microscopically, the tissue was composed of bland spindle cells without cytological atypia, admixed with collagen bundles. Both tumours exhibited nuclear expression of β-catenin on immunohistochemical staining, which is a desirable criterion for desmoid fibromatosis.

Discussion: Although positron emission tomography aids the diagnosis of recurrence, the radiological features of desmoid fibromatosis in computed tomography or magnetic resonance images are nonspecific and preoperative diagnosis of desmoid fibromatosis is difficult. The histological diagnosis of desmoid fibromatosis is difficult, especially when the specimen is small. The histological differential diagnosis of desmoid fibromatosis includes other myofibroblastic or fibroblastic tumours or lesions. Additional studies, such as β-catenin immunohistochemistry or CTNNB1 mutation analysis, can enable accurate diagnosis of desmoid fibromatosis. A correct diagnosis is essential, because the current therapeutic strategy is a "waitand- watch" approach, which is significantly different from those of the other locally aggressive, intermediate soft tissue neoplasms. We have summarised the clinicopathological, histological and immunohistochemical features of the post-operative desmoid fibromatosis.