Detecting Multiple Driver Mutations in a Patient with Essential Thrombocythemia.

BACKGROUND Three driver mutations have been identified in patients with essential thrombocythemia - JAK2 V617F, CALR, and MPL. Out of these, JAK2 V617F is mostly common. These mutations are thought to be mutually exclusive; therefore, the initial workup may not include the identification of all mutations separately.

Syncope and Cardiac Arrhythmias Caused by a Paratracheal Mass.

Syncope is a common complaint in clinical practice. The etiologies and mechanisms can be multiple and complex. Syncope caused by a mediastinal mass compressing the vagus nerve is rare.

Lymphomas mimicking neuroinflammatory diseases - A diagnostic conundrum worth revisiting.

Purpose Of Review: Central nervous system (CNS) lymphomas (CNSLs) have varied clinical presentations which can mimic neuroinflammatory disease, leading to a diagnostic dilemma for clinicians.

Recent Findings: This report describes two patients who initially received a diagnosis of neuroinflammatory disorders but were refractory to treatment over a protracted time course. In both cases, biopsy revealed diffuse large B cell lymphoma (DLBCL) as the final diagnosis.

Histiocytic Disorder Mimicking a Brain Tumor: A Report of 2 Rare Cases.

BACKGROUND Histiocytic disorders, a group of disorders with heterogeneous pathogenesis, morphology, and clinical presentation, include Rosai-Dorfman disease, Langerhans cell histiocytosis, and Erdheim-Chester disease. They can mimic primary or metastatic tumors, both clinically and radiologically, when involving the brain. Therefore, it is crucial to present and discuss cases of histiocytic disorder involving the central nervous system (CNS) to provide new information on disease presentation and diagnosis more.

Primary Pulmonary Leiomyosarcoma in a Forty-Year-Old Woman.

Primary pulmonary leiomyosarcomas (PPLs) are rare aggressive malignancies originating from the smooth muscle cells of the pulmonary interstitium, bronchial tree, or blood vessels. Accounting for <0.5% of lung tumors, PPLs are often initially undetected or misdiagnosed as pulmonary emboli, cardiac neoplasms, or as other more common lung cancer subtypes.

Cystathionine Gamma-Lyase Is Increased in Testicular Seminomas, Embryonal, and Yolk Sac Tumors.

Background: Testicular cancer constitutes 1.0% of male cancer and typically carries a good prognosis. As far as we are aware, the role for hydrogen sulfide in testicular cancer and the level of hydrogen sulfide-synthesizing enzyme have never been addressed.

Bilateral Eagle Syndrome.

Significance StatementUnilateral Eagle Syndrome is relatively rare and highlights important concepts in anatomy and pathophysiology. Bilateral Eagle Syndrome is exponentially more rare and has only been mentioned several times in the literature. Understanding the impact this can have on the human body and the severity of symptoms and sequelae is valuable for several types of specialists that treat this disorder.

Nicotinamide Phosphoribosyl Transferase Is Increased in Osteosarcomas and Chondrosarcomas Compared to Benign Bone and Cartilage.

Background/aim: Primary bone neoplasms include osteosarcomas (OS), chondrosarcomas (CS), and giant cell tumors (GCT). Nicotinamide phosphoribosyl transferase (NAMPT) catalyzes the rate-limiting step of nicotinamide adenine dinucleotide synthesis and is increased in multiple tumor types. In malignancies, NAMPT expression often correlates positively with tumor grade, chemotherapy resistance, and metastatic potential.

Cystathione β-Synthase Is Increased in Thyroid Malignancies.

Background: Cystathione β-synthase (CBS) catalyzes the conversion of homocysteine and cysteine to hydrogen sulfide (HS) and cystathione, via the trans-sulfuration pathway. CBS protein expression levels are increased in several different human malignancies, with increased protein expression correlating with parameters such as tumor stage, anaplasia, metastases, and chemotherapy resistance.

Materials And Methods: This study employed tissue microarrays to examine CBS expression in benign thyroid tissue, thyroid oncocytomas, thyroid follicular adenomas, and in follicular, papillary, anaplastic, and medullary thyroid carcinomas.

Disseminated -Intracellulare Complex Infection Presenting With Disseminated Intravascular Coagulation in an AIDS Patient.

Disseminated -intracellulare complex (MAC) infection is one of the relatively common opportunistic infections seen in severely immunocompromised AIDS patients. A constellation of clinical, laboratory, and pathological features involving multiple organ systems are often present in disseminated MAC infection but disseminated intravascular coagulation (DIC) has not been previously described in association with this condition. To our knowledge, this is the first reported case of DIC complicating disseminated MAC infection in an AIDS patient.

T-Cell Acute Lymphoblastic Leukemia/Lymphoma: Discussion of Two Pediatric Cases and Its Distinction from Other Mature T-Cell Malignancies.

Gamma delta () T-cell antigen receptor (TCR) expression and its related T-cell differentiation are not commonly reported in T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Here we report two pediatric T-ALL cases and present their clinical features, histology, immunophenotypes, cytogenetics, and molecular diagnostic findings. The first patient is a two-year-old girl with leukocytosis, circulating lymphoblasts, and a cryptic insertion of a short-arm segment at 10p12 into the long-arm segment of 11q23 resulting in an MLL and AF10 fusion transcript, which may be the first reported in T-ALL.

Pediatric Pulmonary Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma: A Case Report and Review of the Literature.

Non-Hodgkin's lymphoma (NHL) is a common malignancy of childhood; however, a lung primary presentation is an uncommon finding, as is finding an association with the Epstein-Barr virus (EBV). We report the case of a 23-month-old female who developed EBV-associated diffuse large B-cell lymphoma (DLBCL) that was initially thought to be pneumonia. Extensive tissue necrosis, focal angioinvasion, and angiodestruction were observed.

Ovarian Adenomatoid Tumor Coexisting with Mature Cystic Teratoma: A Rare Case Report.

Adenomatoid tumor of the ovary is rare, and so are collision tumors in this location. The most common histological combination of ovarian collision tumors is the coexistence of mature cystic teratoma with ovarian cystadenoma or cystadenocarcinoma. Presented herein is a rare case of ovarian adenomatoid tumor found incidentally and coexisting with mature cystic teratoma.

Systemic and primary cutaneous anaplastic large cell lymphoma: Clinical features, morphological spectrum, and immunohistochemical profile.

Background: T-cell lymphomas with anaplastic morphology typically comprise of anaplastic lymphoma kinase positive, anaplastic large cell lymphoma (ALK+ ALCL), ALK-negative ALCL (ALK- ALCL), and primary cutaneous ALCL (PC-ALCL). However, other entities such as diffuse large B-cell lymphoma, peripheral T-cell lymphoma, Hodgkin lymphoma, and undifferentiated carcinoma can also show similar anaplastic features.

Aims: To study the clinical features and histological spectrum of ALCL and emphasize the role of immunohistochemistry (IHC) in their diagnosis and categorization.

Nicotinamide Phosphoribosyl Transferase a Reliable Marker of Progression in Cervical Dysplasia.

Background/aim: Nicotinamide phosphoribosyl transferase (Nampt) catalyses the rate-limiting step of the mammalian nicotinamide adenine dinucleotide (NAD) salvage pathway. Nampt is highly expressed in several epithelial and mesenchymal neoplasms, where is promotes cell-cycle progression ans chemotherapy resistance. To our knowledge, alterations in Nampt expression have not been examined in cervical intraepithelial neoplasia (CIN) or squamous cell carcinoma (SCC).

Anaplastic lymphoma kinase rearrangements in non-small-cell lung cancer: novel applications in diagnostics and treatment.

The ALK gene, first identified as an anaplastic large cell lymphoma driver mutation, is dysregulated in nearly 20 different human malignancies, including 3-7% of non-small-cell lung cancers (NSCLC). In NSCLC, ALK commonly fuses with the EML4, forming a constitutively active tyrosine kinase that drives oncogenic progression. Recently, several ALK-inhibiting drugs have been developed that are more effective than standard chemotherapeutic regimens in treating advanced ALK-positive NSCLC.

Increased Nicotinamide Phosphoribosyltransferase and Cystathionine-β-Synthase in Renal Oncocytomas, Renal Urothelial Carcinoma, and Renal Clear Cell Carcinoma.

Background: Renal oncocytomas (ROs), and clear cell (RCC) and urothelial carcinomas (UC), are common renal neoplasms. Nicotinamide phosphoribosyltransferase (Nampt) catalyzes the rate-limiting step of NAD synthesis and its expression is increased in several tumors. Nampt concomitantly regulates hydrogen sulfide (HS)-synthesizing enzyme levels, including cystathionine-β-synthase (CBS).

Acute Promyelocytic Leukemia and Chronic Lymphocytic Leukemia: Concomitant Presentation of Two Molecularly Distinct Entities.

Acute myeloid leukemia (AML) developing in patients with chronic lymphocytic leukemia (CLL) is very uncommon and usually associated with prior treatment. Acute promyelocytic leukemia (APL) accounts for a very small proportion of treatment-associated AML. So far, there has been only one reported case of APL occurring post radiation for prostate cancer in a patient with CLL.

A Twenty-Four-Year-Old Woman with Left Flank Lipoma-Like Hibernoma.

A 24-year-old woman presented with a 5-month history of a left flank mass that was painful on palpation. Magnetic resonance imaging revealed a 10.0 × 6.

A Twenty-Three-Year-Old Man with a Chronic Anterior Chest Wall Wound, Eosinophilia, and Elevated IgE-Job's Syndrome.

A 23-year-old man presented with a chronic anterior chest wall wound. Previously he had a split thickness skin graft in the area in where the wound bed had become infected, developing a thick purulent drainage. The infected skin graft was excised.

Histiocytic sarcoma as a secondary malignancy: pathobiology, diagnosis, and treatment.

Histiocytic sarcoma (HS) is an extremely rare non-Langerhans cell disorder with an aggressive course and limited treatment options. Recent advances in molecular/genetic sequencing have suggested a common clonal origin between various hematolymphoid disorders and cases of secondary HS. Deriving conclusions from previously reported cases of HS arising secondarily to certain hematolymphoid disorders, here we have tried to provide insight into the mechanisms influencing this evolution.

ATYPICAL HEMOLYTIC UREMIC SYNDROME IN AN ADULT SUCCESSFULLY TREATED WITH ECULIZUMAB.

Atypical Hemolytic Uremic Syndrome is a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure not associated with diarrhea. It is a rare condition associated with complement disorders in about 50 percent of cases. The first line of treatment is therapeutic plasma exchange.

ABSOLUTE PLATELET REFRACTORINESS ASSOCIATED WITH HLA ANTIBODIES: A CASE REPORT.

Refractoriness to platelet transfusion is a complex process that can be due to a diverse array of etiologies. We report a case of refractoriness in a patient with acute myelogenous leukemia (AML) and the diagnostic challenge associated with it. During the course of myeloablative therapy the patient demonstrated no response to multiple sequential platelet transfusions given to prevent the onset of bleeding complications in the setting of severe thrombocytopenia.

A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY.

A seven-year-old African-American male presented with a history of hematuria, proteinuria, jaundice, and anemia occasionally treated with transfusions since early childhood. The family history included a father and sister with similar symptoms of anemia, both of which had been diagnosed with hereditary pyropoikilocytosis. Due to the patient's family history and symptoms indicating a possible hematologic problem, a blood draw was performed.

Treatment-related MDS/AML in a patient after treatment for large-cell neuroendocrine lung cancer.

Secondary leukemia is a common late complication after exposure to cancer therapies such as chemotherapy and radiotherapy. With the increase in the overall survival of cancer patients over the past 3 decades, treatment-related malignant neoplasms have increased in incidence. Secondary leukemias due to breast cancer and Hodgkin lymphoma have been studied in detail, but to our knowledge only a few case studies have reported secondary leukemias with previous lung cancer.