Aberrant signal transduction in Indian triple-negative breast cancer patients

Aim of Study: The aim of this study is to correlate the prominin-1 or CD133 association with functional pathway markers of cancer stemness in Indian triple-negative breast cancer (TNBC) patient samples. Materials and Methods: TNBC samples were confirmed for the absence of hormone receptors (estrogen receptor–ER/progesterone receptor) and human epidermal growth factor receptor-2 or proto-oncogene neu or erbB2 or CD340 by immunohistochemical analysis. Formalin-fixed paraffin-embedded samples of patients were used to collect the total RNA. Then, one-step reverse transcription-polymerase chain reaction (RT-PCR) was used to detect the cancer stemness-related transcript levels in the different samples. The RT-PCR products were analyzed semi-quantitatively on agarose gels. The band intensities of respective samples for different transcripts were analyzed by densitometry. Results: TNBC-confirmed samples had shown increased levels of CD133 transcript than control tissues. Further, elevated CD133 transcripts are correlated with higher transcript levels of NOTCH1/FZD7/transforming growth factor-beta receptor Type III R/patched-1 pathway mediators. Conclusions: This work has clearly indicated that there is a correlation between CD133 and functional pathways that control cancer stem cells in TNBC. These observations may indicate the possible association between cancer stemness and TNBC malignancy

Chromosomal aberrations in multiple myeloma: A study on Indian population

Aims: The aim of this study was to evaluate the complexity of the chromosomal abnormalities in multiple myeloma (MM) cases and to correlate the findings with the previous reported cases. Materials and Methods: Bone marrow samples were obtained from patients with MM and sent for cytogenetic study. The patient's details were logged and the cytogenetic test was performed. The karyotypes were analyzed and interpreted as per the standard guidelines. Results: Of the compiled data of cases from 2013 to 2016, 34 patients were diagnosed with MM. About 15% were below the age of 50, maximum patients were between ages of 61 and 70 years (50%). There were 25 male and 9 female. Twenty-one cases had normal karyotypes and few cases showed structural rearrangements and numerical abnormalities. Conclusions: From the data compiled, only a total of 34 cases were positive for MM, indicating that the disease is quite rare in our population. It has been previously reported that the disease usually occurs in people over the age of 50 years, however, in this study, 5 (15%) were below the age of 50 indicating that MM can affect the age group below 50 years as well. The numerical, structural abnormalities and few clonal abnormalities observed in our study added a few more to the previously reported abnormalities. However, the interesting finding of our study was a case with a combination of clones of hypodiploidy, hyperdiploidy, hypotetraploidy, and hypertetraploidy which was in contrary to the reported literatures, which were only one type of ploidy were observed. Thus, the heterogeneity and complexity of the chromosomal abnormalities in MM and the challenge in staging the disease have been proven in our study.

Ovarian hemangioma with stromal luteinization and HCG-producing mononucleate and multinucleate cells of uncertain histogenesis: A rare co-existence with therapeutic dilemma.

A 21 year old female presented with amenorrhea, hirsutism and change in voice along with an elevated serum β-HCG (human chorionic gonadotrophin) level and normal CA-125 level. Laparotomy revealed an enlarged right ovary measuring 6 × 5 × 1 cms with presence of an ovarian hemangioma along with stromal luteinization and HCG producing mononucleate as well as multinucleate cells of uncertain histogenesis on histopathological examination. Immunohistochemistry for inhibin and calretinin were positive in the luteinized component whereas β-HCG and Ki-67 were positive in the multinucleate cell component. The diagnostic rarity and therapeutic dilemma of such a rare mixed tumor within a single ovary has proven to be an exceptional case and an excellent investigative opportunity.

Need for mentorship to improve learning in low-performers.

Background. About 15% of medical students perform poorly in examinations. This study was done to ascertain the causes for low performance and the effectiveness of counselling and advice regarding study skills in improving performance in a subsequent assessment. Methods. Of the 353 students who appeared for the first internal assessment examination in pathology, 83 (23.5%) scored less than 30% marks. These 83 low-performers were given a questionnaire listing stress-inducing factors and academic problems; 81 filled the questionnaire. Of these, 73 attended sessions on study skills and counselling where they interacted on a one-to-one basis regarding their personal problems. Their performance was evaluated in an internal assessment 6 months later. Results. The low-performers included 52 boys and 29 girls, 19–20 years of age. Non-academic problems contributing to low performance included language problems, problems in adjustment to life outside home, lack of self-confidence, fear of failure and worrying about the future. Academic problems included difficulty in managing study time, lack of concentration while studying, inability to retain what is studied, anxiety before examinations and inability to write an examination. Paired t-test revealed a statistically significant improvement in the post-programme performance of the 73 students who participated in the counselling sessions (p<0.001), while that of the 10 who did not participate in the project, showed no statistically significant difference (p=0.54, Wilcoxon signed rank test). A majority of students felt that the sessions helped to improve their performance (average score 3.83/6.00), change their study behaviour (3.74/6.00) and change their attitude (3.46/6.00). The programme also improved their confidence and self-esteem. Conclusion. Low-performers can benefit from tailored remedial programmes which include counselling and training in stress-coping strategies.

Intraventricular hydatid cyst in a child.

Hydatid disease is caused by the infestation of the larvae of tapeworms of the genus Echinococcus. The definitive hosts of Echinococcus are various carnivores, the common being the dog. All mammals (more often sheep and cattle) are intermediate hosts. Humans get infected through the feco-oral route by ingestion of food or milk contaminated by dog feces containing ova of the parasite or by direct contact with dogs. The most common sites of infestation are the liver (75%) and lungs (15%). Various authors state a frequency of hydatidosis of the brain ranging between only 0.2-4% of cases. [1],[2],[3] The prognosis following surgical intervention is good, especially in pediatric age. [2],[3] Hence early diagnosis of this condition is crucial. We report a rare case of a child with a large intraventricular hydatid cyst that had an excellent recovery following surgery.

Embryonal rhabdomyosarcoma of the chest wall: a case report and review of the literature.

Embryonal rhabdomyosarcoma is a soft-tissue sarcoma which has a predilection for the head and neck area, genitourinary tract and the extremities. We report a rare case of embryonal rhabdomyosarcoma of the chest wall in an 8-year-old girl, presenting as a destructive tumor in the rib and clinically and radiologically mimicking Ewing's sarcoma. Histopathological examination showed a small round cell tumor. Immunohistochemically, the positivity for muscle markers desmin and myogenin in the tumor cells proved to be useful for making a definitive diagnosis of embryonal rhabdomyosarcoma. Cytogenetic analysis revealed a high level of aneuploidy in the tumor cells, with double-minutes and additional chromosomal structural aberrations. The patient is responding well to chemotherapy.

Cytomegalovirus pneumonia with pulmonary mucormycosis.

Solid organ transplantation is becoming increasingly common in the treatment of end-stage organ failure. However, despite improvements in patient and allograft survival, immunosuppression-induced compromised cell-mediated immunity predisposes transplant recipients to opportunistic infections. We describe a case of mixed opportunistic lung infection in the form of cytomegalovirus pneumonia and mucormycosis in a renal transplant recipient. Prompt recognition and treatment of infection is imperative for successful transplantation.

Fraser syndrome.

Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

Liver histology in patients on hemodialysis with chronic hepatitis C viral infection.

Hepatitis C virus (HCV) is a major cause of chronic liver disease in patients on hemodialysis. As no useful noninvasive predictors of disease activity and fibrosis have been found, liver biopsy is essential in these patients to accurately assess the severity of disease and thus the prognosis and plan management. The present study was undertaken to assess the degree of severity of necroinflammatory changes and fibrosis in liver biopsies of patients on hemodialysis with chronic HCV infection. Liver biopsies obtained from 45 patients on hemodialysis with serological evidence of chronic hepatitis C were studied. The grading of necroinflammatory activity and staging of fibrosis were histologically assessed. The majority of patients (30, i.e. 66.7%) had mild disease with mild inflammatory activity and stage 0, 1 or 2 fibrosis. There was no significant correlation between the degree of fibrosis and the age of the patients (rs = 0.015), the duration of hemodialysis (rs = 0.047) or the presence of steatosis (rs = 0.064). There was a positive correlation between the presence of bile ductular proliferation and the severity of fibrosis (rs = 0.612). It was concluded that chronic HCV infection in hemodialysis patients is relatively mild early in its course. However, serial follow-up liver biopsies are mandatory to plan appropriate intervention strategies.

Sirenomelia: a case report.

Sirenomelia is a rare and interesting congenital anomaly where there is fusion of the lower limb buds in association with a number of other anomalies, together termed as the caudal regression syndrome. We report this syndrome in a male foetus of 33 weeks gestational age, and review its embryological basis.

Mast cells in surgically resected appendices.

Mast cells are known to be effector cells in various inflammatory reactions, but their role in appendicitis is unclear. The present study was undertaken to investigate the extent of mast cell involvement in appendicitis and evaluate their possible role. A total of 150 appendices including normal and inflamed appendices, were assessed for their histological changes and density of neutrophil, lymphocyte and eosinophil infiltration. The mast cells were counted in 1% toluidine blue-stained sections. It was found that eosinophil counts in all the layers were significantly low in normal appendices (P<0.01) and in chronic appendicitis (P<0.1) as compared to acute appendicitis. Mast cell counts were lowest in normal appendices, significantly higher in acute appendicitis (P<0.01) and highest in chronic appendicitis (P<0.001). Obstruction due to faecoliths or parasites were seen in only 20.1% and 2.1% of the inflamed appendices respectively. Hence a Type I hypersensitivity reaction with release of mediators by mast cells might be another triggering factor for the sequence of events leading to appendicitis.

Mast cells in Helicobacter pylori associated antral gastritis.

Mast cells are known to be effector cells in various inflammatory reactions, but their role in gastritis is unclear. The present study was undertaken to investigate the extent of mast cell involvement in antral gastritis with and without Helicobacter pylori (H. pylori) infection and thus evaluate the possible role of mast cells in the pathogenesis of H. pylori-associated gastritis. Antral mucosal biopsies were taken from 212 subjects with symptoms suggestive of acid peptic disease. Sections were assessed for inflammation. Modified Giemsa stain was used to detect H. pylori infection and 1% toluidine blue to count mast cells. Mast cell counts were significantly higher in the antral mucosa even in H. pylori-negative gastritis (68.4 +/- 6.7/mm2), as compared to normal non-inflamed mucosa (45.7 +/- 5.8/mm2) (P < 0.05). However, with H. pylori infection, the mucosal mast cell count were markedly increased (123.8 +/- 4.7/mm2) as compared to normal mucosa (P < 0.01). and H. pylori-negative gastritis (P < 0.01) this increase was noticed uniformly in patients with H. pylori-positivity, irrespective of the presence or absence of a peptic ulcer. After cure of H. pylori infection, the mast cell density decreased significantly (44.9 +/- 4.6/mm2) to reach levels that were similar to those in normal mucosa. There was a positive correlation between the antral mucosal mast cell density and polymorphonuclear and mononuclear cell infiltration (rs = 0.61). H. pylori infection, and 0.73 respy. It was concluded that could be responsible for increasing the mast cell density in the gastric antrum. Probably by inducing castain mucosal cytokine.

Role of imprint cytology in the diagnosis of gastrointestinal tract malignancies.

Endoscopic biopsies obtained from 275 patients (180 from the upper gastrointestinal tract and 95 from the lower gastrointestinal tract) were studied to compare the accuracy of biopsy imprint cytology and histology in the diagnosis of gastrointestinal lesions, and also to establish the degree of reliability of imprint cytology alone for an early diagnosis of malignancy. Biopsy histology results were found to be correct in 100% cases. Imprint cytology had an overall accuracy of 100%, 96.7%, 95.8% and 95.8% for the diagnosis of malignancies of the oesophagus, stomach, duodenum and colorectum respectively. False negative results were obtained with lymphomas. Regenerative cellular atypia was an important cause for false positive results. It was concluded that imprint cytology can serve as a useful and simple tool for an immediate diagnosis of malignancy. This should be subsequently correlated with histopathology which facilitates exact tumour typing and assessment of tumour invasion.

Sclerosing mediastinitis: a case report.

A rare case of sclerosing mediastinitis in a 38 year old male is described. This interesting case illustrates how a seemingly benign fibrosing condition may lead to disastrous and fatal complications.