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Fulltext The epigenetics changes in childhood solid cancer: a review

Wan Faiziah Wan Abdul Rahman

Malaysian Journal of Paediatrics and Child Health, 2019;23(2):1-15.
MyJurnal

Epigenetics is the study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence. It is a change in phenotype without changing in genotype which in turn affects how cellsread the genes. The epigenetic change is a regular occurrence but can also be influenced by several factors including age, environment, lifestyle, and disease state. It may have damaging effects that result in diseases like cancer. At least three systems including DNA methylation, histone modification and RNA-associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of diseases including in childhood solid cancer such as Ewing sarcoma, neuroblastoma, Wilms tumours, brain tumours and rhabdomyosarcoma. A better understanding of epigenetic changes in childhood cancers can guide towards future therapy and diagnosis.

Matched MeSH terms: Sarcoma, Ewing
Fulltext Human herpes virus 8 antibodies in HIV-positive patients in Surabaya, Indonesia

Oktafiani D, Megasari NL, Fitriana E, Nasronudin, Lusida MI, Soetjipto

Infect Dis Rep, 2020 07 07;12(Suppl 1):8746.
PMID: 32874472 DOI: 10.4081/idr.2020.8746

Background: Human herpesvirus 8 (HHV-8) infection is etiologically related to Kaposi's sarcoma. Antibodies directed against HHV-8 can be detected in 80-95% of HIV-seropositive patients with KS. HHV-8 serological tests have been done in several countries in Southeast Asia such as Malaysia, and Thailand however no serological data is available in Indonesia. This study was to examine the presence of HHV- 8 antibodies in HIV-positive patients in Surabaya, Indonesia.
Material and methods: Ninety-one serum samples were collected from HIVpositive patients in Surabaya, Indonesia. Human immunodeficiency virus-positive serum samples were collected from 10 homosexual men, 25 intravenous drug users (IVDUs) and 56 heterosexuals. Serums were then tested for the presence of HHV-8 antibody by using sandwich ELISA (Abbexa Ltd, Cambridge, UK).
Results: The total of 91 HIV-infected were testing with antibodies to HHV-8 using enzyme-linked immunosorbent assay. Antibodies of HHV-8 were detected in 7/91 (7.7%) of the samples. According to a gender, six men (85.7%) and a women (14.3%) were positive of HHV-8 antibodies. No correlation regarding the gender and age from this study. The antibodies of HHV-8 was detected among intravenous drug users (IVDUs) men 5/7 (42.8%) and 2/7 (28.6%) from homosexual and heterosexual, respectively.
Conclusion: This study found the presence of HHV-8 antibodies in 7.7% of patients in Surabaya, Indonesia. This finding was higher more than Southeast Asian countries. The patients with a positive result could suggest measures to prevent HHV-8 infection.

Matched MeSH terms: Sarcoma, Kaposi
Fulltext A review of gastrointestinal stromal tumours- a single centre experience

Muhammad, Z.R., Norra, H., Suhaila, A., Norlelawati, A.T., Naznin, M.C.

International Medical Journal Malaysia, 2016;15(2):63-68.
MyJurnal

Introduction: Gastrointestinal stromal tumour (GIST) is relatively rare. The clinical behaviour of GIST ranges
from benign to frank sarcoma. The diagnosis is established through histopathological examination and
immunohistochemistry profile. In Malaysia, the number of publications related to GIST is relatively rare. This
study was therefore conducted to examine the demographic, histopathological and immunohistochemical
features of GIST cases diagnosed in the Department of Pathology, Hospital Tengku Ampuan Afzan, Kuantan,
Pahang from 2009 until 2014. Methods: Past histopathological records were reviewed. Demographic and
histopathological and immunohistochemical data of patients diagnosed were collected. Results: There were
28 cases (14 males and 14 females) diagnosed as GIST. Mean age was 56.4 years, and the majority were
above 40 years of age (85.7%). Stomach was the most common location (42.9%), followed by small intestine
(28.6%). In 23 cases (82%), the tumours exhibited spindle cell morphology, while epithelioid cell and mixed
cell types were seen in 3 cases (11%) and 2 cases (7%), respectively. Five cases were categorised as very low
risk to low risk behaviour, while 18 cases were intermediate to high. None of the histological parameters
analysed which include tumour morphology, necrosis, haemorrhage, nuclear atypia and mean number of
mitoses showed significance difference between the different risk behaviour groups. Positivity with KIT
(CD117), considered to be the defining immunohistochemistry feature, was negative in 2 cases. Conclusion:
Although this study is a retrospective study, the findings contribute to the knowledge on GISTS in Malaysia.
Future research related to GISTs in Malaysia should focus on molecular analyses for KIT and PDGFRA
mutations for diagnostic confirmation especially in KIT-negative cases and also for the purpose of
therapeutic response correlations.

Matched MeSH terms: Sarcoma
Fulltext Modified Unipolar Hemiarthroplasty for the Treatment of Metastatic Lesions of Proximal Femur with Pathological Fractures: Case Series of Six Patients

Lim CY, Mat-Hassan S, Awang M, Md-Ariff MF, Hau-Abdullah MA

Malays Orthop J, 2019 Nov;13(3):21-27.
PMID: 31890106 DOI: 10.5704/MOJ.1911.004

Introduction: Proximal femur resection and endoprosthetic reconstruction is the preferred treatment for extensive bony destruction and pathological fractures. Due to the relatively high cost of endoprosthesis, we adopted the modified unipolar hemiarthroplasty (MUH) for reconstruction when the mode of treatment was for palliation. Materials and Methods: This is a retrospective case study of six patients, who had bone and multi-organs metastases with extensive proximal femur involvement with pathologic fractures who underwent resection and MUH reconstruction during the period 2013 to 2017. All patients were classified as Group B / C based on Scandinavian Sarcoma Group survival scoring, with estimated survival of maximum six months. The basic MUH construct consisted of Austin-Moore prosthesis which was secured to a Küntscher nail using cerclage wire and cemented into the femoral canal. Subsequently, the whole length of the prosthesis which remained outside the canal was coated with cement. Results: The mean age was 61.8 years. The mean survival was 3.9 months, post-operation. There was no implant failure during patients' life span; however, a third of the patients developed infection. Wheel chair ambulation was started immediately post-operation for all patients, and two patients progressed to walking frame ambulation. The total cost of each construct was below US$490 in comparison to long-stem hemiarthroplasty (roughly US$ 1700). Conclusion: Our aim was to alleviate pain, facilitate rehabilitation, ease nursing care and improve quality of life for metastatic bone disease patients until end of life. MUH for the treatment of pathological fracture in proximal femoral metastases is a feasible palliative surgical modality in resource-limited settings.

Matched MeSH terms: Sarcoma
Fulltext Hemangiopericytoma 11 years later: delayed recurrence of a rare soft tissue sarcoma

Cheng KP, Wong WJ, Hashim S, Mun KS

J Thorac Dis, 2017 Sep;9(9):E752-E756.
PMID: 29221336 DOI: 10.21037/jtd.2017.08.74

Hemangiopericytomas (HPCs) are uncommon tumours. We present the case of a 41-year-old female with multiple resections at different sites over the course of 11 years. The approach considerations, as well as treatment options and prognosis are discussed. A 41-year-old female with two previous resections for intracranial meningeal HPC in 2004 and 2008, as well as adjuvant radiotherapy, presented in 2015 with left intrathoracic and left hip recurrence confirmed by positron emission tomography/computed tomography (PET/CT). She underwent left proximal femur resection/reconstruction and video-assisted thoracoscopic surgery (VATS) resection of the intrathoracic tumour was attempted. She was discharged home on her 4th post-operative day with minimal pain. There were no neurosensory or motor deficits. Any patient who has been diagnosed with HPC in the past who develops new symptoms should be worked up for recurrence, regardless of the length of disease-free interval, as our case study suggested. There has yet to be a standardized follow-up regime due to the rarity of these tumours. HPC remains a rare soft tissue sarcoma with high recurrence rate. Planned VATS evaluation and resection is possible provided complete resection with clear surgical margins can be achieved, as clear surgical margins offer the best chance of survival.

Matched MeSH terms: Sarcoma
Myeloid Sarcoma of Temporal Bone: A Rare Manifestation of Relapse Acute Myeloid Leukemia

Goh BS, Tang CL, Tan GC

Indian J Otolaryngol Head Neck Surg, 2019 Nov;71(Suppl 2):1023-1026.
PMID: 31750119 DOI: 10.1007/s12070-015-0930-8

Myeloid sarcoma is a rare malignant extramedullary neoplasm of myeloid precursor cells. This disorder may occur in concomitance with or precede development of acute or chronic myeloid leukemia. Sometimes, it is the initial manifestation of relapse in a previously treated acute myeloid leukemia. We report a case of 11 years old boy with acute myeloid leukemia in remission state, presented with short history of right otalgia associated with facial nerve palsy. Diagnosis of right acute mastoiditis with facial nerve palsy as complication of acute otitis media was made initially. Patient underwent simple cortical mastoidectomy but histopathology from soft tissue that was sent revealed diagnosis of myeloid sarcoma. A leukemic relapse was confirmed by paediatric oncologist through bone marrow biopsy. Chemotherapy was commenced but patient responded poorly to the treatment.

Matched MeSH terms: Sarcoma, Myeloid
Human Papillomavirus Infection, p16INK4a Expression and Genetic Alterations in Vietnamese Cervical Neuroendocrine Cancer

Van Ta T, Nguyen QN, Truong VL, Tran TT, Nguyen HP, Vuong LD

Malays J Med Sci, 2019 Sep;26(5):151-157.
PMID: 31728128 DOI: 10.21315/mjms2019.26.5.15

Neuroendocrine cervical cancer is a rare subtype of cervical cancer with a highly aggressive malignancy. This study was conducted to analyse the human papillomavirus (HPV) infection and molecular abnormalities in Vietnamese neuroendocrine carcinomas of the uterine cervix. HPV genotyping and p53 mutations were examined using polymerase chain reaction (PCR)-based direct sequencing. Mutations of epidermal growth factor receptor (EGFR), Kirsten rat sarcoma (KRAS), neuroblastoma RAS viral oncogene homolog (NRAS) and v-Raf murine sarcoma viral oncogene homolog B (BRAF) were identified using commercial kits. Four high-risk HPV genotypes were identified in 26 (86.7%) out of a total of 30 tumours. The prevalence of HPV 16, 18, 31 and 45 was 20.0%, 50.0%, 20.0% and 36.7%, respectively. Overexpression of p16INK4a was observed in 93.3% of cases and was significantly correlated with high-risk HPV infections. Furthermore, p53 and NRAS mutations were detected in five (16.7%) and one (3.3%) cases, respectively, whereas no EGFR, KRAS or BRAF mutations were observed. These results demonstrate that high-risk HPV infection may be an important oncogenic factor for the development and progression of cervical neuroendocrine carcinoma.

Matched MeSH terms: Sarcoma Viruses, Murine
Fulltext Avoiding diagnostic pitfalls in mimics of neoplasia: the importance of a comprehensive diagnostic approach

Samsudin EZ, Kamarul T, Mansor A

Singapore Med J, 2015 May;56(5):e92-5.
PMID: 26034328 DOI: 10.11622/smedj.2015082

Any medical diagnosis should take a multimodal approach, especially those involving tumour-like conditions, as entities that mimic neoplasms have overlapping features and may present detrimental outcomes if they are underdiagnosed. These case reports present diagnostic pitfalls resulting from overdependence on a single diagnostic parameter for three musculoskeletal neoplasm mimics: brown tumour (BT) that was mistaken for giant cell tumour (GCT), methicillin-resistant Staphylococcus aureus osteomyelitis mistaken for osteosarcoma and a pseudoaneurysm mistaken for a soft tissue sarcoma. Literature reviews revealed five reports of BT simulating GCT, four reports of osteomyelitis mimicking osteosarcoma and five reports of a pseudoaneurysm imitating a soft tissue sarcoma. Our findings highlight the therapeutic dilemmas that arise with musculoskeletal mimics, as well as the importance of thorough investigation to distinguish mimickers from true neoplasms.

Matched MeSH terms: Sarcoma/diagnosis; Osteosarcoma/diagnosis
Fulltext C-kit proto-oncogene expression in uterine leiomyosarcomas: case series

Naik, V.R., Hasnan, J.

International Medical Journal Malaysia, 2008;7(2):51-54.
MyJurnal

Introduction: The proto-oncogene c-kit is the cellular homologue of the oncogene v-kit of HZ4 feline sarcoma virus. It is located on chromosome 4 (4q11-12) in the human genome. Interaction between the c-kit receptor and its ligand, stem cell factor, is essential in the development of tissues. C-kit expression has been identified in a number of different neoplasms like seminoma/dysgerminoma, and gastrointestinal stromal tumors (GIST). Recently it has been reported that c-kit is also present in leiomyosarcomas. Tyrosine kinase inhibitors (TKIs) are a promising new therapy in the treatment of cancer. These agents target cellular proteins like kit and its related homologues decreasing cellular proliferation and survival. TKIs may be helpful in treating leiomyosarcomas expressing c-kit. Materials and Methods: In this study a total of 6 cases diagnosed as leiomyosarcomas at Department of Pathology, Universiti Sains Malaysia, Kubang Kerian, Malaysia, were investigated for reactivity for c-kit using immunohistochemical stain. Stain was considered positive if more than 10 percent of the cells showed membrane or cytoplasmic positivity. Results: Two leiomyosarcomas stained faintly with c-kit and in less than 10 percent of the cells. The other 4 cases showed no staining. The control showed good membrane and cytoplasmic positivity. Conclusion: Uterine leiomyosarcomas did not express c-kit. The reason for this could be that the tumors are inherently c-kit negative. More study using larger number of cases is required to validate these findings and further molecular characterization of these mesenchymal tumors is needed to identify the true nature of these sarcomas.

Matched MeSH terms: Leiomyosarcoma; Sarcoma