Ontology-Based Search Procedure to Identify Tissue Samples in an Autopsy Archive: A Pilot Study

This study aimed to obtain a detailed record of all autopsy specimens analyzed in the Pathology Department of the Emergency Clinical Hospital for Children, Cluj-Napoca from 1974 to 2018, by using an ontology-based search procedure (OSP) intended to identify the paraffin-embedded stored specimens in pathology reports. Two thousand nine hundred and fifty-six autopsy reports were analyzed using a list of histology terms and expressions commonly found in the microscopic descriptions of the autopsy reports, in Romanian. One pathologist was asked to evaluate the microscopic descriptive part of the autopsy reports for 300 cases and to classify the identified histology specimens according to the ICD-topography codes. The results were then compared with the OSP results. The validation assay returned a 97.32% sensitivity and a 99.48% specificity of the applied ontology-based search procedure when taking as a reference the assessment performed by a pathologist. The most common specimens identified were in the categories of the lower respiratory system (lung, trachea), liver, biliary tract, pancreas and urinary system. The proposed ontology can link valuable information to a highly reliable pathology-based autopsy registry allowing researchers to gain access to specimens stored in the pathology archives, and to facilitate disease registration, data extraction and reporting. This procedure represents a good starting point for developing suitable solutions to be implemented in registries, data banks and for the development of ontology-based registration tools

Bilateral orbital lymphoma: A diagnostic odyssey through surreal clinical and imaging features plus therapeutic implications

The paper aim was to present a case of bilateral, advanced, orbital lymphoma diagnosed in a middle aged man who was admitted in a clinical condition which almost defied reality. The entire orbito-facial region was replaced by massive ulcero-necrotic masses which completely distorted the normal anatomy, giving an alien-like resemblance of an otherwise ordinary man. The patient was submitted to several imaging examinations (head and whole body computer tomography, head MRI, laterocervical ultrasound and elastography) and surgical biopsy. The final diagnosis was stage IVB diffuse large B-cell lymphoma (DLBCL). Currently the patient is undergoing chemotherapy with astonishing response (clinically visible tumoral shrinkage).The differential diagnosis of orbital masses may be extensive, starting from inflammatory conditions, such as cellulitis, pseudotumor, sarcoidosis and finishing with metastases from lung, renal or breast cancers. However, considering the substantial tumor volume in this case and imaging aspects, lymphomatous origin was the first diagnostic verified and ultimately confirmed.The peculiarities of the case do not reside in the final diagnosis, for DLBCL is the most common form of non-Hodgkin lymphoma in middle aged men, but its debut or spread to orbits is rare, usually unilateral and diagnosed in less advanced stage

Prognostic value of immunohistochemical expression of ZAP-70 and CD38 in chronic lymphocytic leukaemia detected on bone marrow and lymph node biopsies / Valoarea prognostică a expresiei imunohistochimice a ZAP-70 si CD38 în leucemia limfocitară cronică detectată pe biopsii osteomedulare și limfoganglionare

Leucemia limfocitară cronică (LLC) are o evoluție clinică heterogenă. Printre markerii utili în identificarea pacienților cu prognostic nefavorabil se numără statusul nemutat al IgVH, expresia ZAP-70 și expresia CD38. Atât ZAP-70 cât și CD38 evaluați separat s-au dovedit a fi eficienți în identificarea pacienților cu evoluție agresivă a bolii

Atypical aleukemic presentation of large granular lymphocytic leukemia: a case report.

International audienceLarge granular lymphocytic leukemia (LGLL) is a rare lymphoproliferative disorder of transformed natural killer or T-cells attributed to chronic exposure to the proinflammatory cytokine IL-15. Diagnosis of the majority of T-cell LGLL is established by documenting clonal large granular lymphocytes (LGLs) in peripheral blood, by morphology and immunophenotype. The proteasome inhibitor bortezomib is known to target molecular pathways downstream of the IL-15 receptor signaling and has been proposed as a therapy in these patients. We report an uncommon presentation of LGLL with chronic neutropenia lacking typical blood LGLs, which failed to respond to bortezomib but obtained a very good partial remission with a classical methotrexate regimen

CX3CR1 expression and megakaryocytic series assessment on bone marrow biopsies in acquired aplastic anemia. Correlations with hematological parameters.

The study objective was to examine the clinical and hematological significance of receptor CX3CR1 and megakaryocytes in patients with aplastic anemia

Symptomatic Intraosseous Lipoma of the Calcaneum

Intraosseous lipomas are rare bone lesions that can affect any part of the skeleton. In the calcaneum, they are, generally, asymptomatic, but in some cases, patients may complain of pain, swelling or tenderness. Well-conducted radiography and MRI examinations can lead to an accurate diagnosis. In most cases, patients could benefit from conservative means of treatment, but in long-lasting symptomatic cases, surgical treatment may be a good option. The purpose of this article is to increase clinicians’ awareness of this lesion as a possible cause of heel pain and to describe a case of a symptomatic intraosseous lipoma of the calcaneum who underwent curettage and bone cement filling after failure of conservative treatment

Differential peripheral blood gene expression profile based on Her2 expression on primary tumors of breast cancer patients.

Breast cancer prognosis and treatment is highly dependent on the molecular features of the primary tumors. These tumors release specific molecules into the environment that trigger characteristic responses into the circulatory cells. In this study we investigated the expression pattern of 84 genes known to be involved in breast cancer signaling in the peripheral blood of breast cancer patients with ER-, PR- primary tumors. The patients were grouped according to Her2 expression on the primary tumors in Her2+ and Her2- cohorts. Transcriptional analysis revealed 15 genes to be differentially expressed between the two groups highlighting that Her2 signaling in primary tumors could be associated with specific blood gene expression. We found CCNA1 to be up-regulated, while ERBB2, RASSF1, CDH1, MKI67, GATA3, GLI1, SFN, PTGS2, JUN, NOTCH1, CTNNB1, KRT8, SRC, and HIC1 genes were down-regulated in the blood of triple negative breast cancer patients compared to Her2+ cohort. IPA network analysis predicts that the identified genes are interconnected and regulate each other. These genes code for cell cycle regulators, cell adhesion molecules, transcription factors or signal transducers that modulate immune signaling, several genes being also associated with cancer progression and treatment response. These results indicate an altered immune signaling in the peripheral blood of triple negative breast cancer patients. The involvement of the immune system is necessary in favorable treatment response, therefore these results could explain the low response rates observed for triple negative breast cancer patients