Rajlaxmi Sarangi

A 10-year retrospective study of hemangioblastomas of the central nervous system with reference to von Hippel–Lindau (VHL) disease

We aimed to analyze the clinical, radiological, surgicopathological and clinical outcome data of patients who underwent surgery for central nervous system (CNS) hemangioblastoma (HBL) with or without von Hippel-Lindau (VHL) disease. The clinico pathological and radiological findings, management and clinical outcome of patients with CNS HBL (operated between 2000 and 2009) were analyzed retrospectively. The differences between sporadic and VHL-associated HBL were analyzed. Forty-nine patients (28 male, 21 female) underwent surgery for CNS hemangioblastoma. Thirty-nine patients (80%) harbored sporadic HBL whereas 10 (20%) had VHL disease. The mean age at diagnosis for VHL-associated HBL was 32 years when compared to 40 years in sporadic HBL. The lesions were solitary in 41 patients and multiple in eight. The cerebellum was the most common site of HBL (35/49, 71%). Six patients with sporadic and two with VHL disease had spinal lesions. On imaging (available in 43/49 patients), a cyst with a mural nodule was the most common finding, seen in 16 patients (37.2%) whereas nine patients (21%) had solid and cystic lesions. Clinical presentation, radiological features, and histomorphology of HBL with or without VHL disease were similar. Multiple cysts in the pancreas, kidney, broad ligament, epididymis, clear cell renal cell carcinoma, phaeochromocytoma and retinal angiomas were the visceral manifestations seen in patients with VHL disease. Of all patients with VHL disease, three required multiple surgeries for new lesions and one died of renal failure and sepsis. Among the patients with sporadic disease (31/39), two died of surgical complications, one died of postoperative sepsis, three were lost to follow-up and the remainder had resolution of symptoms at 1year following surgery. We concluded that the diagnosis of VHL disease is important as management is more difficult and lifelong follow-up and counseling are required in these patients and for their at-risk relatives.

Pancreatic Extragastrointestinal Stromal Tumors, Interstitial Cajal Like Cells, and Telocytes

CONTEXT The discovery and subsequent ultrastructural characterization of the interstitial Cajal like cells (now called telocytes) in virtually every anatomic sites of the human body, by Laurentiu M Popescu and co-workers, have dramatically improved the understanding the function of these cells and pathogenesis of extragastrointestinal stromal tumors (EGIST). Pancreatic extragastrointestinal stromal tumors (pEGIST), phenotypically similar to pancreatic interstitial Cajal like cells, are extremely rare with an unpredictable biological behavior. OBJECTIVE To review the clinicopathological, radiological, immunohistochemical, and therapeutic outcome data of all reported cases of pEGIST, and highlight the developments in the field of pancreatic interstitial Cajal like cells/telocytes. METHODS A systematic review of English literature (January 2000 to July 2012) was done by using the search engine of PubMed, PubMed Central, Google Scholar, and the Directory of Open Access Journals. RESULTS There have been 19 reported cases of pEGIST during the last decade, over an age range of 31 to 84 years (mean: 56 years) with equal gender predilection ((male:female ratio: 9:10). Preoperative radiological characteristics have been mostly nondiagnostic though these were used, in some, for tissue diagnosis. Majority of pEGIST were localized to pancreatic head (8/19, 42.1%), and 15 of 19 patients (78.9%) were symptomatic at first presentation. The mean size ranged from 2.5 to 35cm (mean: 14 cm). Histomorphological features were that of predominantly spindle cell tumor which consistently expressed c-KIT/CD117 and CD34 by immunohistochemistry, making these two as the most sensitive markers at this site. RESULTS from studies involving discovery on gastrointestinal stromal tumor 1 (DOG-1), the most specific biomarker of GIST/EGIST, has been inconclusive and this was found to be positive in one case only. Neoadjuvant chemotherapy with imatinib mesylate and sunitinib were used in few cases, and genetic analysis of c-KIT proto-oncogene was done in two. By univariate analysis, none of the clinicopathological parameters, except surgical resection with microscopic free margin (R0 resection) (P<0.05), were found to be an important indicators of outcome. CONCLUSION The biological behavior of pEGIST, at present, seems unpredictable which requires indefinite period of follow-up. Large number of such cases with genetic analysis supplemented with immunohistochemistry studies will hopefully throw more light in these tumors.

Primary Extra Nodal Non Hodgkin Lymphoma: A 5 Year Retrospective Analysis

BACKGROUND AND AIM The incidence of extra nodal non Hodgkin lymphoma (ENL) is rising throughout the world. However, data regarding ENL as a group is limited. The aim was to study the epidemiological and histomorphological trends of primary ENL (pENL) in India. MATERIAL AND METHODS The biopsy materials from sixty eight patients with pENL (45 male, 23 female, M:F= 1.9:1), diagnosed over a five year period (2005-2009), were analysed and pathologically reclassified according to the World Health Organization (WHO) classification, 2008 criteria. RESULTS Primary extra nodal non Hodgkin lymphomas constituted 22.0% (68/308) of all non Hodgkin lymphomas (NHL). The mean age at presentation for pENL and primary nodal NHL was 43 years and 58 years, respectively with a male predilection (M: F=2:1). Central nervous system (CNS) constituted the most common extranodal site (20/68, 29.5%) followed by gastrointestinal tract (17/68, 25%), and nose/nasopharynx (8/68, 11.8%). Diffuse large B-cell lymphoma (DLBCL, not otherwise specified), extranodal marginal lymphoma of mucosa associated lymphoid tissue (MALT) type, and B cell NHL unclassified (U) were the three most common histological types observed. T-cell phenotype was rarely noted (4%). Follicular lymphomas and anaplastic large cell lymphoma, seen among nodal NHL, were absent at extra nodal sites. Majority (41/68, 60%) of the patients with pENL were immunocompetent and 55% were in stage I-II with favorable prognosis. CONCLUSION Central nervous system was the most common site of ENL, followed by gastrointestinal tract. Majority of pENL occurred in immunocompetent hosts with a favorable prognosis.

Serum high sensitivity C-reactive protein, nitric oxide metabolites, plasma fibrinogen, and lipid parameters in Indian type 2 diabetic males

AIMS Inflammation is postulated to play a role in diabetogenesis and its further vascular complications. The aim was to assess the inflammatory and lipid parameters in patients of type 2 diabetic mellitus with or without complication. MATERIAL AND METHODS Serum high sensitivity C-reactive protein (hs-CRP), nitric oxide metabolite (NO(X)), fibrinogen, and lipid parameters were measured in eighty type 2 diabetic males (40-65 years) without (n=40, group B) and with complication (16 retinopathy, group C; 24 hypertension, group D); and compared with 40 healthy, age and sex matched nondiabetic males (group A) from the general population. RESULT The mean age of subjects and fasting plasma glucose among groups A, B, and C+D were 51.0 ± 7.1 vs. 48.7 ± 5.7 vs. 50.2 ± 6.1 years (p>0.05); and 96.7 ± 10.4 vs. 134.3 ± 27.8 vs. 136.4 ± 29.8 mg/dl (p<0.001) respectively. Patients with retinopathy were older, with longer duration of diabetes, and high fasting plasma glucose (p<0.001). The mean hs-CRP, NO(X), fibrinogen, TC, TG, and LDL(C) varied significantly (p<0.001) between control and diabetics. hs-CRP, NO(X), and fibrinogen were found to be highest in retinopathy group whereas no significant (p>0.05) difference was noted between groups B and D in relation to hs-CRP and NO(X). TC and LDL(C) were significantly (p<0.001) high among group B patients. Significant positive correlation was observed between all three inflammatory markers in all categories of patients; between FPG, hs-CRP, and fibrinogen among patients with hypertension; between FPG, hs-CRP, and NO(X) in patients with retinopathy. However, none of the lipid parameters showed any significant correlation with any of the inflammatory markers in any group of patients studied. CONCLUSION Low grade systemic inflammation, in association with dyslipidemia, plays a role in diabetogenesis and its complications.

A comparative study of serum aminotransferases in chronic kidney disease with and without end-stage renal disease: Need for new reference ranges

Background: Hepatic diseases are common among chronic kidney disease patients and liver function tests particularly serum liver enzymes play an important role in diagnosing and monitoring these patients. Serum aminotransferase levels commonly fall near the lower end of the range of the normal values in patients of chronic kidney disease (CKD). High-levels of serum alkaline phosphatase (ALP) can occur in these patients due to renal osteodystrophy. Thus, the recognition of liver damage in these patients is challenging. Aim: To compare the levels of serum aspartate aminotransferase (AST), alanine aminotransferase (ALT) and ALP among three groups - CKD patients without end stage renal disease (ESRD), patients with ESRD and healthy controls. Materials and Methods: A retrospective, hospital-based study was carried out from 100 patients’ records from each group and serum AST, ALT and ALP values were noted. Results: Our study showed that serum AST and ALT levels were significantly lower in CKD patients both without and with ESRD compared to controls. Further, these two enzyme levels were also significantly lower in CKD patients with ESRD compared to CKD patients without the condition. Serum ALP levels were significantly higher in patients with and without ESRD as compared to the controls. However, the values did not differ significantly between patients with and without ESRD. Conclusion: Levels of serum aminotransferases were low in CKD with and without ESRD and the levels become lower as the severity of CKD increases. Thus, the study established the need for separate reference ranges of serum aminotransferase in different stages of CKD.

Hemophagocytic lymphohistiocytosis: critical reappraisal of a potentially under-recognized condition

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, potentially life threatening, hyper inflammatory syndrome of diverse etiologies. Cardinal signs include prolonged fever, organomegaly, and persistent unexplained cytopenias. In spite of the well known diagnostic criteria put forth by HLH society, this continues to pose great diagnostic challenge in both pediatric and adult intensive care settings. We describe 4 adult (2 males, 2 females, aged 19, 29, 40, and 17 years) and 3 pediatric (2 males, 1 female, aged 1 month, 6 months, and 12 years) patients with secondary HLH who satisfied the HLH-2004 diagnostic criteria. Definite evidence of hemophagocytosis was noted in 4 patients on initial bone marrow examination. The underlying etiologies were as follows: Rickettsia tsutsugamushi (case 1), autoimmune disorder (case 2), systemic onset juvenile idiopathic arthritis (sJIA) (case 3), unknown bite (possibly a venomous snake) (case 4), Plasmodium vivax (case 5), Cytomegalo virus (case 6), and Mycobacterium tuberculosis (case 7). In one patient, hemophagocytosis was presumed to have been exacerbated by administration of granulocyte monocyte colony stimulating factor (GMCSF) for severe neutropenia. Two patients died with disseminated intravascular coagulation (DIC) and multi organ failure within few days of HLH diagnosis. Immunosuppressive therapy was started in 3 patients, and etoposide was started in one patient only. Due to lack of specificity of diagnostic criteria, diagnosing and differentiating HLH from its closest mimickers like sepsis/septic shock may be quite challenging in critically ill patients. Therefore, increasing awareness among physicians is essential for early diagnosis and effective therapy to reduce the mortality.

Cytogenetic profile of pediatric acute lymphoblastic leukemia (ALL): analysis of 31 cases with review of literature

Abstract Pre treatment diagnostic cytogenetics is one of the most important prognostic indicators of pediatric acute lymphoblastic leukemia (ALL).Bone marrow aspirate samples of 31 cases of pediatric ALL were analyzed by routine G- Banding technique. Karyotype analysis was done as per International System for Cytogenetic Nomenclature (ISCN), 2005 criteria. Sixteen out of 31 (51.2%) cases were hypodiploid (2n<46), 10/31(32.0%) hyperdiploid (2n>46) and 5/31(16.0%) aneuploid. Among hypodiploid groups, nine (29.0%) had modal chromosome number as 31–39, five (16.0%) as 40–45 and two (6.5%) as 25–30. Among hyperdiploid group, 07(22.5%) had modal chromosome number as 51–60 followed by 2n=47–50 (three cases, 6.5%). The chromosomes (Chr.) 2, 10, 12, 15, 17, 19 were commonly deleted in hypodiploid cell lines whereas gain of Chr. 4, 8, 10, 14and 20 were observed in hyperdiploid group. Translocations t(10;14),t(9;22),t(2;22),t(8;22) andt(4;11)were seen in 04(12.8%),03(9.6%),and02(6.4%each) and one case respectively. To conclude a high proportion of cases in this study showed adverse cytogenetic parameters such as hypodiplody and translocations such as t(10;14),t(9;22),t(2;22),t(8;22)andt(4;11).

Factitious Biochemical Reports which are Caused Due to Paraproteinaemia in Multiple Myeloma - A Case Report.

Factitious biochemical reports result in the misguiding of clinicians, unnecessary retesting, wrong diagnoses and incorrect treatments. A vigilant biochemist identifies these factitious biochemical reports and alerts the clinician regarding the proper interpretation of the biochemical reports, thus preventing a misdiagnosis and an incorrect treatment. We are presenting a case report of a multiple myeloma patient who presented with factitious biochemical reports which were caused due to paraproteinaemia. In the present case, the patient presented with an underestimation of urea and creatinine, an underestimation of sodium, low albumin levels and high phosphate levels. On repeating the same tests after dilutions and deproteinizing, the effects of the paraproteins on the above mentioned tests were reduced. Thus, from the observations of our study, we suggest that the interference by paraproteinaemia can be reduced by analyzing the biochemical parameters after dilution and deproteinization.

Papillary thyroid carcinoma and subclinical thyrotoxicosis: Brief insight into the thyroid regulators other than thyroid stimulating hormone

Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. It usually develops in euthyroid patients with history of long standing Hashimotos thyroiditis. Here, we describe the development of PTC in a seronegative patient with subclinical thyrotoxicosis. We suggest that any cold nodule having high-risk features on ultrasonography in hyperthyroid patients should be thoroughly evaluated for the possibility of a thyroid malignancy and the possible role of nonthyroid stimulating hormone regulatory molecules, in thyroid carcinogenesis needs to be further explored.