Unfolding the enigma of familial Hodgkin lymphoma: Current insights

Rákkutatás · Multiple myeloma

First‑degree relatives of patients with HL have an approximately threefold increased risk of developing the disease compared to the general population.

Hodgkin lymphoma (HL) is a heterogenous lymphoproliferative disorder of B‑cell origin and represents one of the most common malignancies in children and young adults. In addition to well‑known underlying factors – such as Epstein‑Barr virus infection – the familial aggregation demonstrated in large population studies suggested a genetic predisposition. First‑degree relatives of patients with HL have an approximately threefold increased risk of developing the disease compared to the general population. These observations have recently prompted several whole‑genome studies in affected families, identifying variants possibly implicated in lymphomagenesis, including alterations in DICER1, POT1, KDR, KLHDC8B, PAX5, GATA3, IRF7, EEF2KMT, and POLR1E. In this article, we review current insights into the etiopathogenesis and risks of familial HL, and present case reports involving two sisters diagnosed with HL nearly 17 years apart. Recognizing the risk for first‑degree relatives may potentially increase awareness of early symptoms among family members of HL patients, leading to earlier diagnosis and better outcomes. Conversely, understanding that the hereditary risk, though higher than in the general population, remains relatively low may provide reassurance for affected families.

Familial aggregation of Hodgkin lymphoma indicates a significant genetic component, underscoring the need for targeted surveillance and potential early intervention in relatives.

Bizonyítékszint: Sejtvonalas. Laboratóriumi sejtekben vizsgálták.

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