exudates and Sarcoma

Thoracic sarcomas (TS) are rare neoplasms that may present with non-specific pulmonary symptoms. Chest radiographs and computed tomography of the thorax are the investigations of choice, while pre-operative minimally invasive biopsies may not be entirely helpful with the diagnosis. The commonly identified variants of thoracic sarcomas include liposarcomas, leiomyosarcomas and synovial sarcomas. Complete excision of the tumour with clear margins remain the sole definite form of management and there is limited role with adjuvant chemotherapy and radiotherapy. In the present case series, we explore our experience with three patients who presented with TS and the management decisions that was made.

Topics: Adult; Humans; Malaysia; Middle Aged; Sarcoma; Thoracic Neoplasms

Germline TP53 mutations cause an increased risk to early-onset breast cancer in Li-Fraumeni syndrome (LFS) families and the majority of carriers identified through breast cancer cohorts have LFS or Li-Fraumeni-like (LFL) features. However, in Asia and in many low resource settings, it is challenging to obtain accurate family history and we, therefore, sought to determine whether the presence of early-onset breast cancer is an appropriate selection criteria for germline TP53 testing.. A total of 100 patients with early-onset breast cancer (≤ 35 years) treated at University Malaya Medical Centre between 2003 and 2009, were analyzed for germline mutations in BRCA1, BRCA2 and TP53 by full DNA sequencing. Of the mutations identified, we examined their likely pathogenicity on the basis of prevalence in a case-control cohort, co-segregation analyses and loss of heterozygosity (LOH) in tumor tissues.. We identified 11 BRCA1 (11%) and 6 BRCA2 (6%) germline carriers among early-onset breast cancer patients. Of the 83 BRCA-negative patients, we identified four exonic variants and three intronic variants in TP53. Of these, two exonic variants are clinically relevant (E346X and p. G334_R335dup6) and two novel missense mutations (A138V and E285K) are likely to be clinically relevant, on the basis of co-segregation and loss of heterozygosity (LOH). Notably, E285K was found in two unrelated individuals and haplotype analyses suggest a founder effect. Two of the three intronic variants are likely benign based on their prevalence in a control population. Clinically relevant TP53 germline mutations were identified in three of the four patients (75%) with a family history of at least two LFS-linked cancers (breast, bone or soft tissue sarcoma, brain tumors or adrenocortical cancer); 1 of the 17 patients (6%) with a family history of breast cancer only, and 1 of the 62 patients (< 2%) with no family history of breast or LFS-linked cancers.. Our study reports germline BRCA1, BRCA2 and TP53 mutations are found in early-onset breast cancer patients at 11%, 6% and 5% respectively, suggesting that TP53 mutation screening should be considered for these patients. However, we find that even in low resource Asian settings where family history is poorly reported, germline TP53 mutations are found predominantly among breast cancer patients with a family history of LFS-linked cancers.

Topics: Adult; Age of Onset; BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Case-Control Studies; Cohort Studies; Female; Genetic Predisposition to Disease; Genetic Testing; Germ-Line Mutation; Humans; Li-Fraumeni Syndrome; Loss of Heterozygosity; Malaysia; Sarcoma; Tumor Suppressor Protein p53

An epidemiological study of 101 consecutive musculoskeletal sarcomas seen at the Institute of Radiotherapy and Oncology between 1995 and 1999 inclusive was carried out. The commonest sarcomas seen were osteosarcoma, rhabdomyosarcoma, Ewing's Sarcoma, liposarcoma, leimyosarcoma, malignant fibrous histiocytoma and chondrosarcoma; which collectively accounted for 84.2% of the group. Thirty patients (29.7%) presented with metastases. The commonest site of occurrence was lower extremity with 47.5%, followed by 34.7% in the trunk and peritoneum/axial skeleton, 9.9% in the head and neck region; and 7.90 in the upper extremity. We found no apparent relationship between race and incidence osteosarcoma and Ewing's sarcoma, as was reported by previous workers.

Topics: Adolescent; Adult; Bone Neoplasms; Child; Female; Humans; Malaysia; Male; Middle Aged; Muscle Neoplasms; Oncology Service, Hospital; Referral and Consultation; Sarcoma

Eight cases of clear cell sarcoma of kidney were seen in the Department of Pathology, University Hospital, Kuala Lumpur, Malaysia over the 16-year period from 1973 to 1989. Five of the patients were males. Six patients were Malay, one Chinese and one Indian. The patients' ages ranged from 8 months to 3 years. Clear cell sarcoma was the original diagnosis in two patients while six were diagnosed as blastemal-predominant Wilms' tumours at presentation. Metastases developed in five patients. Metastatic sites included the thoracic vertebra, skull, orbit, humerus, radius, ulna, shoulder, lung and liver. The prolonged survival, of 9 years and 9 months, seen in one patient despite omission of Adriamycin (doxorubicin) from the chemotherapeutic protocol is highlighted. We also emphasise the histological factors which are of help in differentiating clear cell sarcoma from Wilms' tumour.

Topics: Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Kidney Neoplasms; Malaysia; Male; Sarcoma; Survival Analysis; Wilms Tumor

Clear cell sarcoma of kidney (CCSK) is a rare but distinct tumor of childhood frequently confused with Wilms' tumor (nephroblastoma). It has a characteristic histology, a marked predilection for metastasis to bone, and an aggressive clinical course with a high relapse rate in spite of surgical excision, chemotherapy and radiotherapy. We report the first histologically proven CCSK in a Malaysian patient. This was an 8-mth-old Malay boy who was clinically diagnosed to have stage I Wilms' tumor. Despite treatment, he developed multiple metastases 10 mths after initial presentation and died soon after. Emphasis is placed on recognizing this entity in view of (1) its naturally aggressive behaviour and (2) the prospect of improving prognosis with currently recommended intensified chemotherapeutic regimes. Its immunohistochemical profile of vimentin-positivity and negativity for epithelial membrane antigen, cytokeratin and Factor-8 related antigen is more in favour of a mesenchymal or glomerular origin than a tubular or vascular origin.

Topics: Humans; Immunohistochemistry; Infant; Keratins; Kidney Neoplasms; Malaysia; Male; Membrane Glycoproteins; Mucin-1; Sarcoma; Vimentin; von Willebrand Factor

Fifteen patients underwent surgery for cardiac tumours in General Hospital Kuala Lumpur between October 1984 and June 1989. Twelve of the patients had cardiac myxomas and underwent excision under cardiopulmonary bypass. Two patients had sarcoma, of which one was excised. The other was inoperable. Another patient had a metastalic malignant melanoma which was inoperable. Of the patients 10 were female and five male. Their ages ranged from 16 to 60 years. All were symptomatic and the commonest mode of presentation was exertional dyspnoea and palpitations. Two presented with cerebral embolisation. The three patients with malignant tumours had constitutional symptoms at the time of surgery. All patients had echocardiography pre-operatively to confirm the diagnosis of cardiac tumour. Only one patient underwent preoperative cardiac catheterisation and angiography. The surgical approach in all patients was through a median sternotomy and all except one were operated under cardiopulmonary bypass. There was no intraoperative embolisation. There was one perioperative death. Fourteen patients were followed up for periods ranging from one to 44 months. Three patients with malignant cardiac tumours died. One had recurrence of myxoma 21 months after the initial surgery. We conclude that excision of cardiac myxomas carry a very small risk following which patients have good prognosis. Malignant tumours carry a bad prognosis. From our experience, we conclude that echocardiography is an extremely accurate tool in the diagnosis of cardiac tumours.

Topics: Adolescent; Adult; Female; Follow-Up Studies; Heart Atria; Heart Neoplasms; Hospitals, General; Humans; Malaysia; Male; Middle Aged; Myxoma; Retrospective Studies; Sarcoma; Surgical Procedures, Operative

Topics: Adenoma; Adolescent; Adult; Attitude to Health; Brain Neoplasms; Child; Craniopharyngioma; Ependymoma; Ethnicity; Female; Geography; Glioma; Hemangiosarcoma; Humans; Malaysia; Male; Meningioma; Neoplasm Metastasis; Neurilemmoma; Pinealoma; Pituitary Neoplasms; Sarcoma; Skull Neoplasms; Socioeconomic Factors; Time Factors