Inherited protein mutation linked to rare cancer for the first time

Murdoch Children's Research Institute researchers have linked a rare type of cancer – most prevalent in Asian and Polynesian populations - to a mutation in a protein that is central to immune
system regulation.

The research, published today in Nature Genetics, is the first to find that an inherited mutation in the HAVCR2 gene leading to a non-functioning T cell immunoglobulin mucin 3 (TIM-3) protein has been associated with a specific disease.

Researchers from MCRI, University of Melbourne and Peter MacCallum Cancer Centre worked with teams from France and Canada to examine samples from patients with subcutaneous panniculitislike T cell lymphoma (SPTCL), a rare type of non-Hodgkin lymphoma that affects the skin.

MCRI cancer researcher Dr Dong Anh Khuong Quang said that mutated TIM-3 is associated with cases of SPTCL where hemophagocytic lymphohistiocytosis (HLH) - a condition that causes severe immune system dysregulation – is also present.

The researchers found inherited mutations alter the normal function of TIM-3, leading to persistent immune activation and increased production of inflammatory cytokines that lead to the development of SPTCL.

The team will now collaborate with New Zealand researchers to focus more closely on how the variant presents in Maori and Polynesian populations.

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