Sarcoma of the heart: a rare intracardiac tumor and review of literature

Primary sarcomas of the heart are exceptionally rare and are aggressive tumours. We report a 38 year old Chinese lady who had an intermediate grade sarcoma with myofibroblastic differentiation. The tumour was found in the right atrium. Literature reviews of rare intracardiac sarcomas are discussed

Hybrid nerve sheath tumour, a conglomerate of separate entities

Hybrid nerve sheath tumours (HNSTs) are benign tumours showing combined features of more than one peripheral nerve sheath tumour (PNST) entities. Most literature highlight combination of two entities. Only few reported cases involve all three components of PNST. Herein, we report a case of 33-year-old Malay lady, with left proximal middle finger soft tissue swelling for three months. Microscopically, the tumour is well-circumscribed, containing all three components of PNST, with each displaying its typical morphology and immunohistochemical staining pattern. This case suggests that PNSTs may be more closely related than what was earlier believed. However, whether HNSTs are part of the PNSTs spectrum with tumour syndromes association or a distinct entity is still a continuous debate. We also highlight the possibilities of recurrence and risk of malignant transformation in HNSTs. The exact pathogenesis, potential for recurrence and malignant transformation criteria for HNSTs are still vague due to their extreme rarity

Identifying common mutations in colorectal cancer using a 7-gene panel by next generation sequencing

Introduction: Colorectal cancer (CRC) arises from the cumulative effects of genetic and epigenetic alterations. Cur-rent treatment of metastatic CRC relies on combination of chemotherapy and targeted therapies such as anti-EGFR therapies. The success of targeted therapies relies on the detection of actionable targets and predictive biomarkers of resistance. The study aims to determine mutations in common actionable targets and predictive biomarkers of resistance to anti-EGFR therapies in Malaysian CRC patients. Methods: Mutations in 10 CRC tissues were determined by next-generation sequencing with a panel of 7 cancer-related genes covering all exons in KRAS, BRAF, PIK3CA, PTEN, TP53, NRAS, and EGFR genes. Immunohistochemistry was used to determine mismatch repair (MMR) status. Results: Of the ten samples, 5 and 4 samples harboured two and one mutation, respectively and one had no mutation. All were missense mutations and were in five genes, namely, KRAS, PIK3CA, TP53, BRAF, and EGFR. They were, G12D, G12V, G12A, G13D, and V14I in KRAS, E545K, K733R, and D1056N in PIK3CA, G199V, D259Y, and R282W in TP53, V600E in BRAF and G696R in EGFR. Deficient mismatch repair (dMMR) was detected in three samples, of which two had KRAS mutation. Conclusion: Mutations in KRAS codon 12 and 13, BRAF and PIK3CAwhich predict resistance to anti-EGFR therapies and three TP53 mutations were found. This is the first report of EGFR mutation in Malaysian CRC patients. It is predicted to be a pathogenic variant. dMMR, one of the biomarkers for treatment with immune checkpoint inhibitor was also detected

Godtfredsen syndrome – recurrent clival chondrosarcoma with 6years follow up: a case report and literature review

Background: We report a rare case of Godtfredsen syndrome caused by clival chondrosarcoma and perform a review of literatures. This article also explains the clinico-anatomical correlation of this rare neurological syndrome. Case presentation: A 22-year-old gentleman presented with binocular diplopia. Clinical examination revealed an isolated right abducent nerve and right hypoglossal nerve palsy, with other cranial nerves intact. Neuroimaging revealed a right clival mass. Supraorbital craniotomy and tumour debulking were done in the same year. Histopathological examination showed low-grade chondrosarcoma. After 5-years of default, he came back with the tumour enlarged. He underwent a right orbitozygomatic craniotomy and tumour excision with 33 cycles of radiotherapy. Despite two surgeries and radiotherapy, the abducent nerve and hypoglossal nerve did not improve throughout 6 years of follow-up. Cranial nerve VI palsy is not always a false localizing sign, in Godtfredsen syndrome it serves as a localizing sign. Conclusion: To the best of our knowledge, this is the frst case report of Godtfredsen Syndrome secondary to clival chondrosarcoma. Cranial nerve VI and XII palsy with no involvement of other cranial nerves, most likely the pathology is located at the clivu

Inhibition of cell migration and invasion by miR-29a-3p in a colorectal cancer cell line through suppression of CDC42BPA mRNA expression

The objective of this study was to determine the effect of miR 29a 3p inhibitor on the migration and invasion of colorectal cancer cell lines (CRC) and the underlying molecular mechanisms. miR 29a 3p was detected using reverse transcription-quantitative polymerase chain reaction (RT qPCR) in the CRC cell lines HCT11, CaCo2, HT29, SW480 and SW620. An invasive subpopulation designated SW480 7 was derived from the parental cell line, detected by Transwell and Transwell Matrigel assays. Cytoskeleton Regulators RT2 profiler PCR array and western blot analysis were utilized to identify the alterations in expression of downstream mRNAs. siRNA against CDC42BPA was transfected into SW480 7 and effects on cell migration and invasion were investigated. Data obtained showed that miR 29a 3p was detected in these five CRC cell lines. miR 29a 3p inhibitor had no effect on viability but stimulated cell migration and invasion of SW480 7 cells. In contrast, miR 29a 3p mimic suppressed cell migration and invasion. TargetScan miRBD and DIANA were employed to identify the potential direct target genes of miR 29a 3p in the Cytoskeleton Regulators RT2-Profiler PCR array. Cytoskeleton Regulators RT2-Profiler PCR array data showed that 3 out of the 5 predicted targets genes, CDC42BPA (2.33-fold), BAIAP2 (1.79-fold) and TIAM1 (1.77-fold), in the array were upregulated by miR 29a 3p. A significant increase in expression IQGAP2, PHLDB2, SSH1 mRNAs and downregulation of PAK1 mRNA was also detected with miR 29a 3p inhibition. Increase in CDC42BPA, SSH1 and IQGAP2 mRNA expression correlated with increased protein level in miR 29a 3p transfected SW-480-7 cells. Silencing of CDC42BPA (an enhancer of cell motility) partially abolished miR 29a 3p inhibitor-induced stimulation of cell migration and invasion. miR 29a 3p expression in stage II and III CRC is relatively lower than that of stage I CRC. However, the data need to be interpreted with caution due to the small sample size. In conclusion, inhibition of miR 29a 3p stimulates SW480 7 cell migration and invasion and downstream expression IQGAP2, PHLDB2, SSH1 mRNAs are upregulated whilst PAK1 mRNA is downregulated. Silencing of CDC42BPA expression partially reduces miR29a 3p inhibitor-induced migration and invasion of SW480 7 cells

High expression of cyclooxygenase-2 in high grade human prostate adenocarcinoma

Inflammation plays an important role to the process of prostate carcinogenesis by increasing the rate of cell proliferation, which contributes to an aggressive tumour phenotype. Cyclooxygenase-2 (COX-2) has been found overexpressed in various types of cancer cells including prostate. The aim of this study was to investigate the COX-2 expressions in different types of human prostate tissues. Paraffin-embedded prostate tissues from 263 samples were examined for the expression of COX-2 marker by immunohistochemistry method. COX-2 was found highly expressed in prostate adenocarcinoma (p=0.001) as compared to benign and normal tissues. The score of COX-2 expressions in most of normal prostate was weak 49 (77.8%), while only 16 (16%) of BPH showed strong expression. 56 cases (56%) prostate cancer showed strong COX-2 expression. Prostate cancer cases showed significant differences in staining patterns as tumour grade increased. In addition, COX-2 expression was significantly correlated with Gleason score in cancerous tissues. This study suggests that COX-2 overexpression is associated with prostate cancer and higher grade tumour

Solitary fibrous tumour of the chest wall

Extrapleural solitary fibrous tumours (SFTs) are rare tumours characterized by patternless spindle cells with haemangiopericytoma-like vascular spaces. Previously the tumours have been classified as haemangiopericytoma, an entity that is now considered obsolete. We report a case of extrapleural SFT arising in the soft tissue of the chest wall. The patient was a 31-year-old Malay lady presenting with a mobile swelling of the right chest wall for more than five years. During excision the tumour was noted to be well-circumscribed and yellowish in colour, giving an impression of lipoma. Microscopically, the tumour had patternless architecture, characterized by hypocellular and hypercellular areas. It was composed of uniform, spindle-shaped cells displaying oval nuclei, inconspicuous nucleoli, pale cytoplasm and indistinct cell borders. The mitotic count was 2 per 10 HPF. Branching, medium-sized thin-walled blood vessels in a haemangiopericytomatous growth pattern, some with hyalinised wall were identified. The neoplastic cells were immunoreactive to CD99 and CD34 and were non-immunoreactive to Desmin, Smooth Muscle Actin, S100 protein and EMA. We elucidate the challenges in diagnosing this tumour in this unusual location

Superficial angiomyxoma of the eyelid: a case report and review of the literature

Superficial angiomyxoma (SA) is an angiomyxoid cutaneous tumour. It has predilection for the head and neck, torso, limbs and genital tract. Our case is a 27-year-old female, presented with painless right medial canthal mass for two years. It was associated with tearing when the lesion grew larger. We received a nodular brownish tissue measuring 25x20x15mm with homogenous brownish cut surface. Microscopically, the tumour was partially circumscribed, exhibiting bland stellate to spindle cells of moderate cellularity with pale eosinophilic cytoplasm, indistinct border, in a loose collagenous myxoid matrix with numerous blood vessels of different calibre. The lesional cells were present at the resected margin and were nonreactive towards CD34, SMA and S100. SA of the eyelid is sometimes mistaken clinically as dermoid cyst or lipoma. Reports have shown increased risks of local recurrence following incomplete excision. Close association with Carney’s complex is an important feature. Careful clinicopathologic correlation and proper investigations are needed for optimal patient care