ALK negative inflammatory myofibroblastic tumor of the orbit: A masquerading entity.

Infl ammatory myofi broblastic tumor is a biologically distinct neoplasm of intermediate grade, which can aff ect every possible tissue of the human body. It is a ‘masquerading tumor’ as the presenting complaints vary with the aff ected site. Occurrence of this tumor as an orbital mass is rare and is challenging for both the clinician as well as the pathologist, due to a varied number of lesions sharing a similar picture clinically and histologically. We discuss a rare case of inflammatory myofibroblastic tumor presenting as an orbital mass and the importance of immunohistochemistry in arriving at the diagnosis, which helps dictate the treatment and prognosis of the patient.

Is necropsy obsolete - An audit of the clinical autopsy over six decades: A study from Indian sub continent.

Introduction: Several studies have documented a decrease in the autopsy rate. This study was taken up to analyse the cause of mortality, the discrepancies between the ante mortem and post mortem diagnosis and the discrepancies between diagnoses according to the type of the disease over a period of six decades. Materials and Methods: Autopsy reports and medical records were retrospectively analyzed over a 63 year period from 1947 to 2010. Results: In our study, there was a steady increase in the percentage of neoplastic cases from 1947 to 1994 after which there has been a signifi cant drop. The cases dying due to infection has also shown a steady decline over the years until 1994. After 1994, there has been a signifi cant increase in the deaths until 2010 (p < 0.05). Death due to cardiac causes has shown an increase until 1962 which has been followed by a steady decline. There has been a sudden rise in the number of cases dying due to renal causes between 1994 and 2000 (p < 0.05). There has been a statistically signifi cant decrease in the discrepancies between the ante mortem and the post mortem diagnosis over the years. Discussion: This study shows that therapeutic and preventive measures correctly instituted have signifi cantly reduce the mortality, particularly with reference to cardiac and infectious causes. The discrepancy between antemortem and post-mortem diagnosis in 2010 is still very high at 9.30 percent. The autopsy will continue to remain relevant especially in elucidating the molecular cause of disease.

Is high pressure liquid chromatography an effective screening tool for characterization of molecular defects in hemoglobinopathies.

Introduction: Hemoglobinopathies constitute entities that are generated by either abnormal hemoglobin or thalassemias. high pressure liquid chromatography (HPLC) is one of the best methods for screening and detection of various hemoglobinopathies but it has intrinsic interpretive problems. The study was designed to evaluate the different mutations seen in cases of hemoglobinopathies and compare the same with screening tests. Materials and Methods: 68 patients of hemoglobinopathies were screened by HPLC. Mutation studies in the beta globin gene was performed using the polymerase chain reaction (PCR)-based allele-specific Amplification Refractory Mutation System (ARMS). Molecular analysis for the sickle cell mutation was done by standard methods. Results: The IVS 1/5 mutation was the commonest mutation seen and it was seen in 26 (38.23%) of the cases. This was followed by the IVS 1/1, codon 41/42, codon 8/9, del 22 mutation, codon 15 mutation and the -619 bp deletion. No mutation was seen in eight cases. There was a 100% concordance between the sickle cell trait as diagnosed by HPLC and genetic testing. Discussion and Conclusion: Our study underlies the importance of molecular testing in all cases of hemoglobinopathies. Although HPLC is a useful screening tool, molecular testing is very useful in accurately diagnosing the mutations. Molecular testing is especially applicable in cases with an abnormal hemoglobin (HbD, HbE and HbS) because there may be a concomitant inheritance of a beta thalassemia mutation. Molecular testing is the gold standard when it comes to the diagnosis of hemoglobinopathies.

Primary mucinous carcinoma of eyelid: a rare clinical entity.

Primary cutaneous mucinous carcinoma of the eyelid, a rare pathologic entity, is an adenocarcinoma of the eccrine glands. Though it has low metastatic potential, it does have a significant recurrence rate. We present the occurrence, clinical and histological features, and management of this tumor in a 62-year-old male who presented with a recurrent, firm, nodular left lower lid lesion. He underwent excision with a 5 mm margin and the defect was repaired with a Mustarde's cheek rotation flap. A full oncological screening, including whole-body Positron Emission Tomography scan, excluded the presence of primary mucinous carcinoma elsewhere and any metastatic spread. This case underscores the importance of considering this tumor in recalcitrant eyelid lesions and highlights the pathology of this tumor.

Extensive chronic graft-versus-host disease of skin successfully treated with thalidomide.

Thirty years female underwent allogenic peripheral blood stem cell transplantation for chronic myeloid leukaemia--chronic phase. She developed grade II acute skin graft-versus-host disease (GVHD) which was treated with cyclosporine and a short course of steroids. She developed extensive chronic GVHD of the skin and liver three hundred days post-transplant. She was managed with the standard immunosuppressants with partial response of liver dysfunction but no response of skin lesions. She showed a good response to therapy with resolution of skin lesions after treatment with thalidomide.