Malaysian Journal of Pathology最新文献

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.

Introduction: Although epithelial-mesenchymal transition (EMT) and p53 have been established to play a pivotal role in the aggressiveness of muscle-invasive bladder cancer (MIBC), its pathological correlation to cisplatin treatment in the Malaysian patient cohort is lacking. This study aimed to evaluate the association of EMT markers, e-cadherin, vimentin and actin, as well as tumour suppressor gene, p53, in cisplatin-receiving MIBC patients.

Materials and methods: Formalin-fixed paraffinembedded (FFPE) blocks of muscle-invasive bladder cancer patients receiving cisplatin-based chemotherapy between January 2010 to December 2020 were traced. Immunohistochemistry staining was performed on traced blocks using antibodies to e-cadherin, vimentin and actin, and p53.

Results: p53 and e-cadherin were stained positive in most cases (p=0.515 and 0.242 respectively), although e-cadherin showed stronger positive expression in pre-cisplatin receiving MIBC cases. All the cases stained negative for actin and vimentin except for faint staining observed in one pre-cisplatin case.

Conclusion: Although this study does not show a significant correlation between EMT markers and p53 with cisplatin-responsiveness in MIBC patients, the results serve as preliminary findings on the heterogeneous outcomes of molecular staining in the Malaysian MIBC patient cohort.

Introduction: Adamantinoma-like Ewing Sarcoma (ALES) is a rare variant of the Ewing family of tumours (EFT) harbouring the EWSR1-FLI1 translocation and with complex epithelial differentiation. Very few cases of ALES involving thyroid have been reported in literature.

Case report: We report a case of ALES involving the thyroid in a 61-year-old male who presented with an enlarging nodule in the left lobe of the thyroid and underwent hemithyroidectomy.

Discussion: ALES demonstrates morphologic similarity to a multitude of epithelial and mesenchymal tumours, creating a potential diagnostic pitfall in thyroid and head and neck pathology. Given the rarity of this tumour, there is also a lack of accepted guidelines regarding further surgical management of these cases following hemithyroidectomy.

Introduction: Traditional cardiovascular (CV) risk factors are constituents of Metabolic Syndrome (MetS) and Framingham Risk Score (FRS). However, CV risk exists even when these risk parameters are normal and have been attributed to the atherogenic small dense low-density lipoprotein cholesterol (sdLDL). This study aimed to determine the association of Pattern B and LDL subfractions with MetS and FRS among selected Malaysian population.

Materials and methods: A cross-sectional study of 380 subjects ≥30 years old at health screening. Sociodemographic factors and clinical characteristics were recorded. Fasting serum lipids, LDL subfractions and plasma glucose were analysed.

Results: Being older, Malay with Pattern B independently predicted MetS. Being male, Chinese with Pattern B and increased body mass index (BMI) and diastolic blood pressure (DBP) were more likely to be in the intermediate to high risk FRS group. Common independent biochemical predictors include LDL1 and sdLDL: LDL3 in MetS and non-high-density lipoprotein cholesterol in FRS.

Conclusion: BMI and DBP may provide incremental prognostic value to FRS risk estimates if included. Considering a significant incidence of Pattern B in low FRS risk subjects (13.4%), routine LDL subfraction analysis could identify these individuals that would be overlooked if their risk were predicted solely based on their FRS only. The non-specific lowering of LDL1 by lipid-lowering therapy based on conventional lipid profile might have a negative effect on several physiological processes. Hence, if LDL subfractions are determined, therapy can be targeted towards sdLDL. Recognising asymptomatic individuals who carry high CV risk is pertinent in primary prevention.