Detection of human papillomavirus (HPV) in malignant melanoma.

The most common type of melanoma is cutaneous melanoma (CM). The predominant mutational signature is that of ultraviolet radiation (UVR) exposure. The Cancer Genome Atlas (TCGA) molecular classification includes four major subtypes of CM based on common genetic alterations involving the following genes: BRAF, NRAS, and NF1, with a small fraction being "triple" wild-type. The two main signaling pathway abnormalities in CM are the mitogen-activated protein kinase (MAPK) pathway and the phosphoinositol-3-kinase (PI3K) pathway. Other less common types include mucosal melanomas (MM) and uveal melanoma (UM), which have a significantly different genomic landscape. Although few studies reported rare cases with HPV-positive (HPV+) melanoma, the clinicopathological and molecular characteristic of this entity has not been well-described. Among the 2084 melanoma cases queried at our institution, we identified seven patients diagnosed with HPV+ melanoma (prevalence 0.03 %), including five instances of CM and two of MM. The majority of cases were positive for HPV16 (n = 6). Most of the patients were elderly and with advanced disease (n = 6), although this finding may be attributed to the relative frequency of our institution testing advanced-stage tumors. Histologically, most cases showed high degree of pleomorphism and high mitotic count (5 or more mitoses/mm2) (n = 6). UVR signature was present in the CM, but not in the MM cases. Alterations in either MAPK and/or PI3K pathways were detected in the majority of cases (n = 6). The most common genetic abnormalities detected in this study occurred in the TERT promoter (TERTp) (n = 5), a finding that has been reported to be associated with aggressive disease. Our data shows that while HPV+ melanoma is rare, identifying this disease entity could help guide therapy given the demonstrated genomic alterations.

An unusual presentation of primary pulmonary extranodal marginal zone lymphoma of mucosal associated lymphoid tissue: An autopsy case report.

A 40 year old female with no documented medical history presented to the Emergency Department with several days of lethargy and altered mental status. She was found to be anemic, thrombocytopenic, and hypotensive. The patient was found to be in severe metabolic acidosis, became bradycardic, and quickly deteriorated. Clinicians suspected thrombotic thrombocytopenic purpura, and the diagnosis was supported by ADAMTS13 testing. The clinicians attempted to place a Quinton catheter for emergent plasmapheresis, but the patient expired before definitive treatment could be initiated. Autopsy was obtained and revealed a right middle lobe consolidation grossly consistent with lymphoid tissue or tumor.

Kaposi sarcoma-associated herpesvirus/human herpesvirus 8-associated extracavitary primary effusion lymphoma presenting as multiple lymphomatous polyposis.

Primary effusion lymphoma (PEL) is a distinct clinicopathological entity usually characterized by presentation as a lymphomatous body cavity effusion in the absence of solid tumor mass or dissemination during its clinical course. PEL can also rarely occur as a solid lymphoma involving nodal and extranodal sites and is referred to as extracavitary PEL. Here we report a unique case of extracavitary PEL in a 49-year-old HIV-seropositive patient who presented with vague abdominal pain and 20-lb weight loss. Esophagogastroduodenoscopy and colonoscopy revealed more than 100 broad-based intestinal polyps ranging from 2 mm to 3 cm in size, spreading from the duodenum to the rectum as a typical impression of "intestinal polyposis syndrome." Multiple biopsies demonstrated sheets of large lymphoid cells with characteristic features of extracavitary PEL with strong Kaposi sarcoma-associated herpesvirus/human herpesvirus 8 virus positivity by immunohistochemistry. Extracavitary PEL presenting as distinctive multiple lymphomatous polyposis as manifested in the case has not been described previously.

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. CASE REPORT We present a case of gelsolin amyloidosis in a male of African descent with an atypical clinical presentation including fevers, skin rash, polyneuropathy, and anemia. Gelsolin amyloidosis was diagnosed based on mass spectrometry of tissue samples. Importantly, a novel mutation in the gelsolin gene (C1375G) in exon 10 was found in this patient. His atypical presentation can possibly be attributed to the presence of a novel mutation in the gelsolin gene as the likely underlying cause of the syndrome. PCR primers were used to amplify the gelsolin gene from genomic DNA. Purified PCR products were then shipped to Eton Biosciences (San Diego, CA) for sequencing. CONCLUSIONS This study carries several important lessons relevant to the practice of medicine. First, the differential diagnosis for multisystem disease presentations should always include amyloidosis. Second, despite what has been uncovered about the molecular biology of disease, there is always more that can be discovered. Finally, further work to verify the link between this mutation and the clinical syndrome is still needed, as are effective treatments for this disease.

Coexistence of intestinal Kaposi sarcoma and plasmablastic lymphoma in an HIV/AIDS patient: case report and review of the literature.

Human immunodeficiency virus (HIV) infection or acquired immunodeficiency disease (AIDS) is associated with increased risk for various malignancies including Kaposi sarcoma (KS) and lymphoma. We report a rare case of coexistence of KS and plasmablastic lymphoma (PBL) in the gastrointestinal (GI) tract in a HIV/AIDS patient. A brief review of literature is also presented.