# First person – Priyanka Tibarewal

PMC · DOI: 10.1242/dmm.052724 · Disease Models & Mechanisms · 2026-01-07

## TL;DR

This paper explores the role of impaired nuclear PTEN function in causing macrocephaly, lymphadenopathy, and late-onset cancer in PTEN hamartoma tumour syndrome.

## Contribution

The study identifies impaired nuclear PTEN function as a novel driver of disease manifestations in PTEN hamartoma tumour syndrome.

## Key findings

- Impaired nuclear PTEN function leads to macrocephaly and lymphadenopathy in PTEN hamartoma tumour syndrome.
- The study links PTEN dysfunction to late-onset cancer development in the syndrome.
- Research focuses on disease mechanisms and drug repurposing for PHTS.

## Abstract

First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping researchers promote themselves alongside their papers. Priyanka Tibarewal is first author on ‘
Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome’, published in DMM. Priyanka is a senior research associate in the lab of Bart Vanhaesebroeck at University College London, London, UK, investigating the disease mechanism and repurposing drugs for PTEN hamartoma tumour syndrome (PHTS).

## Linked entities

- **Genes:** PTEN (phosphatase and tensin homolog) [NCBI Gene 5728]
- **Diseases:** cancer (MONDO:0004992)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12817332/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12817332/full.md

## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12817332/full.md

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Source: https://tomesphere.com/paper/PMC12817332