Varsha Podduturi

Isolated atrial amyloidosis and the importance of molecular classification.

Amyloid is identified microscopically as an amorphous extracellular hyaline material that exhibits “apple-green” birefringence with Congo red stains. Amyloid is not a chemically distinct entity, and currently available molecular methods are capable of identifying over 20 amyloidogenic precursor proteins. Some of the more common diseases associated with amyloidosis include plasma cell dyscrasias, chronic inflammatory disorders, hereditary-familial mutations involving transthyretin, Alzheimers disease, and so-called “senile” or age-related amyloidosis. The amyloid deposits in these various diseases may be isolated to a single organ such as the heart or brain, or the amyloidosis may be systemic. The senile types of cardiac amyloidosis can result from overproduction of atrial natriuretic factor or from accumulation of otherwise normal or wild-type transthyretin. We present the case of an 83-year-old hospitalized woman with known atrial fibrillation and previous pacemaker implantation who had cardiac arrest unresponsive to attempted resuscitation. Autopsy disclosed prominent amyloidosis involving the left atrium, and subsequent molecular studies identified the amyloidogenic material as alpha atrial natriuretic factor. Since the clinical management and genetic implications of the various diseases associated with amyloidosis are markedly different, we stress the importance of molecular classification whenever possible.

Malignant rhabdoid tumor of the kidney arising in an adult patient

Malignant rhabdoid tumors (MRT) of the kidney are rare in children and even less common in adults, with only six previously reported adult cases. We present the case of a 60-year-old man with an MRT arising in the left kidney with extensive pulmonary micrometastases and thromboembolism resulting in thrombotic pulmonary microangiopathy (pulmonary tumor embolism syndrome). MRT is an extremely aggressive neoplasm with a short survival time.

Hepatic angiosarcoma associated with disseminated intravascular coagulation.

We present a case of hepatic angiosarcoma that presented with disseminated intravascular coagulopathy to highlight the difficulty in diagnosing this disease due its aggressive clinical course, the overlapping features of various coagulopathies, and the nonspecific appearance of angiosarcomas on imaging.

A Case Series of Clinically Undiagnosed Hematopoietic Neoplasms Discovered at Autopsy

OBJECTIVES In the United States, autopsy rates have diminished to less than 5% during the last half of the 20th century and the beginning of the 21st century for a multitude of reasons. Many believe this results in unrecognized malignancies that could have explained a patients death. METHODS We describe six deaths in which hematopoietic neoplasms were identified at autopsy but were not diagnosed clinically. RESULTS The six undiagnosed hematopoietic malignancy cases discovered at autopsy include four men and two women ranging from 50 to 78 years of age. One patient was African American and five patients were white, all with multiple comorbidities. The tumors included diffuse large B-cell lymphoma, activated B-cell type, intravascular large B-cell lymphoma, ALK-negative anaplastic large cell lymphoma arising in a setting of human immunodeficiency virus, and a myeloid sarcoma. CONCLUSIONS These cases illustrate the importance of the traditional postmortem examination in not only confirming clinical diagnoses but also identifying previously unknown diagnoses. Hematologic malignancies may present with nonspecific clinical manifestations, and this series of cases also emphasizes the necessity for widening the differential diagnosis in patients with unexplained lactic acidosis and hepatic failure to include hematopoietic malignancies since prompt treatment may be lifesaving.

Clear cell carcinoma of the ovary associated with increased risk of venous thrombosis.

Clear cell carcinoma of the ovary (CCCO) is an uncommon, clinically aggressive neoplasm that has a propensity for the development of venous thrombosis and embolization, especially when compared to other subtypes of ovarian malignancies. We present a fatal case of a 59-year-old woman with a clinical course complicated by venous thrombosis and pulmonary thromboembolism that was attributed to CCCO discovered initially at autopsy.

Primary Cardiac Angiosarcoma

In adults, most primary cardiac tumors are benign; however, angiosarcoma is the most common primary sarcoma of defined lineage arising in the heart in most series (1). Other primary malignant cardiac tumors include rhabdomyosarcoma, osteosarcoma, leiomyosarcoma, undifferentiated sarcoma, and primary cardiac lymphoma (2). Most cardiac angiosarcomas occur in the third to fifth decades with a male predominance; ninety percent arise within the right atrium (3). Clinical presentation may include dyspnea, valvular dysfunction, arrhythmias, pericardial effusion (often bloody), tamponade, and pulmonary or systemic thromboembolism (3).

Abdominal Apoplexy: A Stroke of Misfortune

Idiopathic spontaneous intraperitoneal hemorrhage (ISIH), or abdominal apoplexy, is due to nontraumatic, small vessel rupture; excluded by definition is hemorrhage associated with aortic aneurysm, gynecologic conditions (including ruptured ectopic pregnancy), and bleeding tumors. As defined, this condition is rare and etiologically complex. We report a case of ISIH associated with ruptured dissection of the gastroduodenal artery (GDA) which occurred following two paracentesis procedures for ascites due to cirrhosis. Severe acute inflammation of the vessel wall and resolving endocardial thrombosis suggest an infectious or “mycotic” etiology for this arterial dissection. Direct vascular injury during paracentesis was excluded as a cause of death. Small artery hemorrhage may be associated with aneurysmal rupture or other vasculopathies. Visceral small vessel aneurysms are rare, and GDA aneurysms are even less common. Although the regional vascular anatomy is complex and finding a bleeding point within a bloody field with no intravascular pressure may be impossible, careful dissection of the smaller vascular branches can be rewarding. Clinical management of ISIH is also challenging since findings may be nonspecific and limited to hemodynamic instability and atypical abdominal pain; however, immediate exploratory surgery is the treatment of choice, and the non-operative mortality approaches 100%.

Mixed epithelial and stromal tumors of the kidney discovered incidentally at autopsy

Mixed epithelial and stromal tumors (MEST) of the kidney are uncommon neoplasms that were added to the World Health Organizations renal tumor classification in 2004. These entities are biphasic and contain both epithelial and mesenchymal components. MEST most commonly occur in women. Presented are two cases of MEST incidentally discovered at autopsy.

Anaplastic large-cell lymphoma in AIDS.

AIDS-related malignancies may alter clinical courses and result in death in critically ill patients. We present a case of a newly diagnosed AIDS patient with Pneumocystis jiroveci pneumonia, Epstein-Barr virus, and cytomegalovirus infections who was found to have widely metastatic kinase-negative anaplastic large-cell lymphoma. This case demonstrates the diversity in the malignant presentation of HIV-infected patients, outside of the more commonly observed non-Hodgkin lymphomas.

Sudden Death by Pulmonary Thromboembolism due to a Large Uterine Leiomyoma with a Parasitic Vein to the Mesentery.

The pathophysiology of venous thrombosis is classically attributed to alterations in one or more components of Virchows triad: hypercoagulability, stasis, and damage to the vascular endothelium. Deep vein thrombosis (DVT) may lead to pulmonary thromboembolism (PE), and the latter is culpable for many deaths annually in the United States; however, DVT as a complication of uterine leiomyoma has rarely been reported. We report a case of a 57-year-old woman whose death was due to a large pedunculated subserosal leiomyoma externally compressing the pelvic veins resulting in stasis and venous thrombosis leading to fatal PE. The association of large pelvic masses with venous thrombosis has clinical implications, since prophylactic surgery could be life-saving.