Pleomorphic Adenoma with a Novel Gene Rearrangement-LINC01606::PLAG1.

BACKGROUND: Pleomorphic adenoma is a well-known benign salivary gland neoplasm characterized by the presence of varying proportions of three different components, including bi-layered ducts, myoepithelial cells, and admixed within a chondromyxoid/fibrous stroma. METHOD: We report an interesting case of an adult male who presented with bleeding from an extensively degenerated parotid gland mass, concerning for a vascular neoplasm versus primary malignant tumor. Microscopically, majority of the viable tumor exhibited diffuse proliferation of spindle to epithelioid cells, with focal areas depicting cribriform glands, ducts, and scant chondromyxoid stroma. RESULT: Next-generation sequencing (NGS) RNA-based fusion panel analysis identified a gene rearrangement involving the pleomorphic adenoma gene 1 (PLAG1), with a novel, cryptogenic fusion partner known as LINC01606; [LINC01606::PLAG1; inv(8;8)(8q12.1;8q12.1)]. CONCLUSION: To the best of our knowledge, this is the first documented case of a long non-coding RNA (lnc-RNA) serving as a rearrangement partner with the PLAG1 gene. We reviewed the molecular characteristics of this entity and explored the potential role of LINC01606::PLAG1 in the tumorigenesis of pleomorphic adenoma.

Histopathologic "Evolution" in Pediatric Primary Intracranial High-Grade Sarcoma - a Key that Unlocked the Correct Diagnosis.

Central nervous system (CNS) tumors are the second most common in the pediatric age group, accounting for 3.5% of overall mortality. The 2021 World Health Organization (WHO) classification of pediatric CNS tumors has given insight into their molecular biology. Correct diagnosis of high-grade intracranial sarcomas is a well-known challenge because of their histopathological variation, presence of heterologous elements, and haphazard pattern of growth. We present a case of a 13-year-old female with a right-sided frontal hemorrhagic mass. Pathological work-up revealed an intra-cranial high-grade sarcoma, not otherwise specified (NOS). Despite receiving chemo-radiation, the lesion recurred after 9 months. This time, the sarcoma had evolved, showing distinct focal rhabdomyoblastic differentiation. Next-generation sequencing (NGS) based assay revealed variants p.E1705V, p.Y1417Ter in DICER1, and other mutations in KRAS and TP53 genes. The lesion was then diagnosed as spindle cell sarcoma with rhabdomyosarcoma-like features, DICER1 mutant. We propose that upfront molecular studies in pediatric undifferentiated high-grade sarcomas are indicated for precise diagnosis and classification.

Fatal Hemophagocytic Lymphohistiocytosis Resulting in the Death of a Previously Healthy 49-Year-Old Man in Ten Days.

Hemophagocytic lymphohistiocytosis (HLH) is an aggressive, life-threatening condition with sudden onset of a systemic inflammatory response syndrome. The triggers can be apparently non-specific, and the clinical presentations can be very deceptive during a rapidly deteriorating clinical course. Herein, we report a case of a 49-year-old White/Caucasian male with no known past medical history who presented with multi-organ failure, including liver, kidney, and bone marrow, along with disseminated intravascular coagulation. He had a high probability of HLH. Unfortunately, he died ten days after the initial presentation. At autopsy, the liver was necrotic and immunostains revealed diffuse positivity for HSV-1 & 2. The bone marrow was markedly hypocellular with phagocytes containing intact and fragmented red blood cells. There was also disseminated fungal infection involving almost all tissues. PCR, done on frozen tissue samples, revealed Aspergillus fumigatus. The rapid and fatal course of this patient illustrates the sometimes-aggressive course of HLH and the importance of autopsy examination in revealing the underlying etiology for this patient's death.

Complexities and complications of extreme obesity.

Obesity is a common chronic disorder and has detrimental long-term consequences if left untreated. Herein, we report a case of a young lady who suffered from morbid obesity and many of its consequences, and we present a literature review of these complications. While the cause of obesity is multifactorial, the genetic component is particularly important in the pathophysiology of marked obesity. Resistance to Leptin is considered one of the main causes of obesity. There is a unique relationship between polycystic ovary syndrome and obesity, as observed in our case. Obesity is associated with cardiovascular and lung diseases such as heart failure, thromboembolic disease, sleep apnea, and pulmonary hypertension. Our patient had cardiomegaly (730 gm) with eccentric hypertrophy of left and right ventricles. The coronary arteries and aorta were free of atherosclerosis, which is a surprising finding that relates to the mysterious phenomenon of obesity paradox. The terminal event in our young woman was multiple segmental and subsegmental pulmonary arterial thrombi/thromboemboli superimposed on chronic cardiopulmonary stress due to massive obesity.

Complexities and complications of extreme obesity

ABSTRACT Obesity is a common chronic disorder and has detrimental long-term consequences if left untreated. Herein, we report a case of a young lady who suffered from morbid obesity and many of its consequences, and we present a literature review of these complications. While the cause of obesity is multifactorial, the genetic component is particularly important in the pathophysiology of marked obesity. Resistance to Leptin is considered one of the main causes of obesity. There is a unique relationship between polycystic ovary syndrome and obesity, as observed in our case. Obesity is associated with cardiovascular and lung diseases such as heart failure, thromboembolic disease, sleep apnea, and pulmonary hypertension. Our patient had cardiomegaly (730 gm) with eccentric hypertrophy of left and right ventricles. The coronary arteries and aorta were free of atherosclerosis, which is a surprising finding that relates to the mysterious phenomenon of obesity paradox. The terminal event in our young woman was multiple segmental and subsegmental pulmonary arterial thrombi/thromboemboli superimposed on chronic cardiopulmonary stress due to massive obesity.