An autopsy series of an oft-missed ante-mortem diagnosis: hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome resulting from a hyperactivated immune system. Diverse patient profiles and clinical presentations often result in misdiagnosis. This article describes the varied clinical presentations and autopsy findings in three patients with this entity. The etiopathogenesis of HLH, its disparate and confounding clinical features, the diagnostic criteria, and management principles are also briefly reviewed.

Artificial intelligence in cancer diagnostics and therapy: current perspectives.

Artificial intelligence (AI) has found its way into every sphere of human life including the field of medicine. Detection of cancer might be AI's most altruistic and convoluted challenge to date in the field of medicine. Embedding AI into various aspects of cancer diagnostics would be of immense use in dealing with the tedious, repetitive, time-consuming job of lesion detection, remove opportunities for human error, and cut costs and time. This would be of great value in cancer screening programs. By using AI algorithms, data from digital images from radiology and pathology that are imperceptible to the human eye can be identified (radiomics and pathomics). Correlating radiomics and pathomics with clinico-demographic-therapy-morbidity-mortality profiles will lead to a greater understanding of cancers. Specific imaging phenotypes have been found to be associated with specific gene-determined molecular pathways involved in cancer pathogenesis (radiogenomics). All these developments would not only help to personalize oncologic practice but also lead to the development of new imaging biomarkers. AI algorithms in oncoimaging and oncopathology will broadly have the following uses: cancer screening (detection of lesions), characterization and grading of tumors, and clinical decision-making and prognostication. However, AI cannot be a foolproof panacea nor can it supplant the role of humans. It can however be a powerful and useful complement to human insights and deeper understanding. Multiple issues like standardization, validity, ethics, privacy, finances, legal liability, training, accreditation, etc., need to be overcome before the vast potential of AI in diagnostic oncology can be fully harnessed.

An autopsy series of an oft-missed ante-mortem diagnosis: hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome resulting from a hyperactivated immune system. Diverse patient profiles and clinical presentations often result in misdiagnosis. This article describes the varied clinical presentations and autopsy findings in three patients with this entity. The etiopathogenesis of HLH, its disparate and confounding clinical features, the diagnostic criteria, and management principles are also briefly reviewed.

Double-positive in triple-negative? How significant is basal cytokeratin expression in breast cancer?

BACKGROUND: Basal-like breast cancer has an unfavorable prognosis. Immunohistochemically, they are predominantly estrogen receptor (ER), progesterone receptor (PR) and CerbB2 receptor (HER2)-negative, show expression of Cytokeratins (CKs) 5/6, CK14, CK 17 and P-cadherin and are associated with germline BRCA1 mutations. Immunohistochemistry (IHC) is an easily available and relatively inexpensive technique that can detect this cancer subtype, and patients can benefit from aggressive management protocols. The aim of this study was to evaluate the expression of CK 5/6 and CK14 in breast cancer and its correlation with age, tumor grade, tumor size, histomorphological pattern, nodal status, ER, PR, HER2/neu, and Ki-67 index. METHODS: Fifty treatment-naїve patients of breast carcinoma who underwent surgery constituted the study group. No core cut biopsy specimens were considered. Histopathological examination along with IHC was performed for CK5/6, CK14, ER, PR, HER2/neu, and Ki-67. Comparison between the expression of CK5/6 and CK14 with age, tumor size, tumor grade, histological subtype, nodal status, ER, PR, HER2/neu, and Ki-67 expression was performed using SPSS 20 version software. RESULTS: Twenty-six percent of cases showed expression of CK5/6 and CK14. CK5/6 and CK14 expression correlated strongly with ER/PR negativity, young age, and Ki-67 proliferative index greater than 15%. No significant association with HER2/neu negativity was demonstrated. Contrasting results were obtained between CK5/6 and CK14 expression with respect to tumor grade and lymph node status. CONCLUSION: IHC can be used to identify patients with basal phenotype breast cancer with good sensitivity and specificity, and such patients can benefit from aggressive management.

Uncommon affliction of a common disease - primary tuberculosis of thyroid gland.

Tuberculosis (TB) continues to be a major public health problem in India. With an annual incidence rate of 2.8 million new cases, India accounts for a quarter of the global TB burden. Primary thyroid TB still remains a rare entity even in this era of global TB pandemic. Here we discuss a case of primary thyroid TB in a 22-year-old immunocompetent male patient presenting with a thyroid swelling followed by non-healing sinus tract after fine-needle aspiration cytology (FNAC) procedure. TB is a known common cause for development of chronic sinuses and ulcers. However, the primary involvement of thyroid gland along with formation of non-healing sinus tract post FNAC make it a most unusual case posing a diagnostic challenge to the unsuspecting physician.

Kimura disease with nephrotic syndrome in a child- A rare association.

Lymphadenopathy along with various systemic manifestations is commonly encountered in pediatric patients, tuberculosis being the commonest etiology. Occasional patients may present a diagnostic conundrum. Here, the authors report an unusual manifestation of Kimura disease (KD) presenting as nephrotic syndrome associated with mesenteric lymphadenitis in an 11-year-old male child. KD is a chronic inflammatory disorder of unknown etiology. It typically affects young adult males in the age range of 27-40 years and usually presents as painless itchy nodular masses in the head and neck region. The involvement of mesenteric lymph nodes along with a very young age of presentation makes it a rare case, posing a diagnostic challenge for the unsuspecting physician.

Taming Alzheimer's disease: New perspectives, newer horizons.

Alzheimer's disease (AD) is the leading cause of dementia. However, current therapies do not prevent progression of the disease. New research into the pathogenesis of the disease has brought about a greater understanding of the "amyloid cascade" and associated receptor abnormalities, the role of genetic factors, and revealed that the disease process commences 10 to 20 years prior to the appearance of clinical signs. This greater understanding of the disease has prompted development of novel disease-modifying therapies (DMTs) which may prevent onset or delay progression of the disease. Using genetic biomarkers like apolipoprotein E (ApoE) ε4, biochemical biomarkers like cerebrospinal fluid (CSF) amyloid and tau proteins, and imaging biomarkers like magnetic resonance imaging (MRI) and positron emission tomography (PET), it is now possible to detect preclinical AD and also monitor its progression in asymptomatic people. These biomarkers can be used in the selection of high-risk populations for clinical trials and also to monitor the efficacy and side-effects of DMT. To validate and standardize these biomarkers and select the most reliable, repeatable, easily available, cost-effective and complementary options is the challenge ahead.