Case Report: From Kaposi's sarcoma to primary effusive lymphoma

Area of Science:

• Oncology
• Virology
• Genetics

Background:

• Primary effusion lymphoma (PEL) is a rare B-cell malignancy with a poor prognosis.
• PEL is strongly associated with persistent infections of Kaposi's sarcoma-associated herpesvirus (KSHV) and Epstein-Barr virus (EBV).
• Limited data exists on the correlation between KSHV genotypes and PEL development, particularly in elderly populations.

Observation:

• A unique case of non-HIV, non-effusive PEL with disseminated Kaposi's sarcoma (KS) was identified in an elderly Bouyei patient.
• The patient presented with co-infection of KSHV and EBV, suggesting a role in cancer development.
• Multiple sample sites (blood, saliva, colon, skin, gastric mucosa) were analyzed.

Findings:

• Phylogenetic analysis of the KSHV Open Coding Framework (ORF)-K1 gene suggested a potential new subtype, designated Cnew.
• The KSHV genotypes identified in the patient exhibited a traceability pattern aligning with human Y-chromosome DNA haplogroup trees.
• Dynamic demonstration of KSHV and EBV co-infection promoting tumorigenesis.

Implications:

• This case expands the understanding of PEL presentation and KSHV/EBV co-infection dynamics.
• The identification of a potential new KSHV subtype warrants further investigation.
• Findings suggest a link between KSHV genotypes, human genetic lineages, and lymphoma development.