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 Hashimoto's 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.

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.

Isolated deletion of the long arm of chromosome 20 [del(20q12)] in myelodysplastic syndrome: a case report and literature review.

Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.

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.

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.

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.