Desmoplastic small round cell tumor (DSRCT) of the abdomen is a recently identified aggressive neoplasm. Very few cases have been reported in the literature. Thus, the treatment guidelines are yet to be defined. The role of chemotherapy, radiotherapy and surgery is evolving. We treated four cases of DSRCT involving the abdomen using combination chemotherapy and/or tumor cytoreductive surgery. There were two men and two women. The chemotherapy drugs consisted of cisplatin, adriamycin, etoposide, ifosphamide, vincristine and cyclophsophamide. All patients achieved meaningful partial response to chemotherapy, which maintained for 6-9 months. There were very minimal chemotherapy-related complications. At the time of reporting, the median survival time was 15 months. Thus, DSRCT is an aggressive intra-abdominal tumor with excellent chemoresponsiveness, but relapse is frequent.
The purpose of this study was to count the number of lymphatic channels present in colorectal adenocarcinoma and correlate it with site, size, and stage of tumor, lymph node metastasis.
Colonic adenocarcinoma metastasising to the skeletal muscle is rare. A-56-yr-old Malay man was diagnosed to have adenocarcinoma of the right colon [Dukes B] for which a right hemicolectomy was performed, followed by radiotherapy and chemotherapy. Five years later the patient presented with a mass in the rectus abdominis muscle. The serum carcinoembryonic antigen was 71 ng/Ml. The mass was resected. Gross and microscopical examination showed multiple deposits of mucin-secreting adenocarcinoma with prominent heterotopic ossification in the stroma. The exact pathogenesis and significance of heterotopic ossification is not clear, but bone morphogenetic proteins may play an important role.
Fungal infection in the oral cavity is not uncommon. The site involved is usually species related. Cryptococcus rarely infects the oral cavity. We report an elderly patient who presented with a central lesion on the dorsum of the tongue. Biopsy revealed a fungal infection. Special stains confirmed cryptococcus. Being a rare location for cryptococcal infection, clinical suspicion should be correlated with histopathological examination. Once confirmed, the patient should be treated with an antifungal medication.
Choristoma is a benign tumor where new bone formation occurs. It occurs exclusively in the flat bones of the skull and face. These are slow growing lesions that are usually completely asymptomatic and only present when there is a disruption in the function of the organ due to its large size as it grows. These choristomas can rarely occur in soft tissues especially in the head, eye, tongue, or extremities. Choristomas of the soft tissues are very rare. Only 61 cases of choristomas of the tongue have been reported in literature. Here we report a case of choristoma in the base of the tongue in a 25-year-old Malay female.
To determine the prevalence of goblet cell metaplasia in endocervical and endometrial adenocarcinomas by histochemial staining and to investigate the most sensitive histochemical staining method to detect this metaplasia, a total of 90 tissue blocks representing 30 non-neoplastic cervix, 30 non-neoplastic endometrium, 30 endocervical and endometrial adenocarcinoma cases were obtained for histochemical staining with Toluidine Blue (TB), Methylene Blue (MB), Mucicarmine (MUC), Periodic Acid Schiff before and after Diastase digestion (PAS, PAS-D), Alcian Blue pH 2.5 (AB), and Periodic Acid Schiff after Alcian Blue pH 2.5 (PAB). The cases were blinded and evaluated by a pathologist [NHO] for the presence of goblet cell metaplasia, the amount of goblet cells present and the histochemical differentiation of the goblet cells compared with its surrounding glandular epithelium. Goblet cell metaplasia was present in 2 out of 30 cases in non-neoplastic cervix, 0 out of 30 cases in non-neoplastic endometrium, 7 out of 15 cases in endocervical adenocarcinoma and in 2 out of 15 cases in endometrial adenocarcinoma. Relatively few goblet cells were seen in endometrial adenocarcinoma, few to moderate amounts were seen in endocervical adenocarcinoma and relatively more goblet cells were seen in non-neoplastic cervix. The differentiation of the goblet cells with its surrounding glandular epithelium was moderate to strong in non-neoplastic cervix and endocervical adenocarcinoma, while the differentiation in endometrial adenocarcinoma was weak to moderate. The various staining methods showed differences in presence, amount and differentiation of the goblet cells. Goblet cell metaplasia of the reproductive organs is not as rare as previously reported. There was no statistical difference in presence, amount and differentiation of goblet cells according to the various cases. The must optimum staining methods for staining goblet cells in non-neoplastic cervix, endocervical adenocarcinoma and endometrial adenocarcinoma were PAS, PASD and AB.
The reconstruction of the upper eyelid with medial canthal involvement post extensive removal of malignant tumour remains a challenge. Proper eyelid reconstruction is necessary to reestablish anatomic integrity, restoration of its functions and to maintain the best cosmetic appearance. These case reports illustrate an alternative reconstructive technique for large upper eyelid full thickness defect with medial canthal involvement. Two cases of upper eyelid tumours involving medial canthal region underwent staged reconstruction by glabellar flap advancement and reconstruction of the posterior lamellar with autologous graft using buccal mucosa and ear cartilage. The posterior lamellar graft and flap survived without any complication except for mild eyelid margin notching in one of the two cases. The staged reconstruction with glabellar flap advancement provides adequate defect coverage, excellent blood supply, maintains eyebrow contour and function of the eyelid. The flap also perfectly matches the surrounding tissue with minimal donor site morbidity.
Schwannoma in the head and neck region is very rare. The tumour occurring in the intraparotid facial nerve is even rarer. A patient presenting with a parotid swelling with facial nerve paralysis is not pathognomonic of a facial nerve schwannoma. However it may occur because enlargement of the parotid, by any kind of tumour especially a malignant one can cause facial nerve paralysis. We report a case of an intraparotid facial nerve schwannoma, in a patient who presented with parotid enlargement and facial nerve paralysis.
Cavernous hemangioma is a vascular tumor composed of large dilated blood vessels and containing large blood-filled spaces. The formation is due to dilation and thickening of the walls of the capillary loops. Most cavernous hemangiomas present at birth or soon after. On the other hand, jugular phlebectasia is an abnormal benign sacculofusiform dilatation of jugular veins. It should be considered as one of the differential diagnosis of neck swelling. Majority of the reported cases occurred in a young child. We reported a case of an elderly woman who was diagnosed clinically as anterior jugular vein phlebectesia. Histologically the mass turned out to be a cavernous hemangioma.
To investigate the protein expression profile of mismatch repair (MMR) genes in suspected cases of Lynch syndrome and to characterize the associated germline mutations.
A 66-year-old Malay woman, known hypertensive, presented with post menopausal bleeding associated with clot for three months. She was postmenopausal for last ten years. She also complaints of developing a mass in the abdomen which was growing in size also for last three months. Abdominal examination revealed a twenty week size mass, movable from side to side but unable to get below the mass. Vaginal examination revealed a fleshy fungating mass arising from the uterus coming out through the vagina. Cervix could not be visualized properly. Subsequent histopathology of the removed mass was reported as a Malignant Mixed Mullerian Tumour - Heterologous.
Loss of heterozygosity (LOH) and microsatellite instability (MSI) have been documented as important events in oral squamous cell carcinoma (OSCC). Five microsatellite markers D3S192, D3S966, D3S647, D3S1228 and D3S659 were selected on chromosome 3p because of high frequency of alterations reported in head and neck squamous cell carcinoma and the involvement of von Hippel Lindau (VHL) at 3p25-26 and the fragile histidine triad (FHIT) at 3p14.2 genes proven in many tumour types. A total of 50 archival tissue samples of OSCC and corresponding normal samples were analyzed for LOH and MSI status. The overall LOH for the markers selected on 3p was 56 out of 189 informative cases (29.6%). The most frequent LOH was identified for the marker D3S966 which was 18/42 (42.8%) of informative cases suggesting the presence of putative tumour suppressor genes (TSGs) in this loci. In this study, high frequency of microsatellite instability was found in D3S966 which was 28.6% of informative cases; this reveals the possibility of mutations of MMR genes in this region. Frequent microsatellite alterations (MA) were observed in 3 markers D3S966 (71.4%), D3S1228 (56.7%) and D3S192 (41.0%). There was no significant association between LOH with gender, tumour stages and differentiation grades. However, there was a significant association between tumour stage and differentiation grades with MSI status in OSCC in Malaysian population with p values of 0.002 and 0.035, respectively. There was also a significant association between MA and differentiation grades (p=0.041).
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.