Seek and you shall find...

Alderton, Gemma K.

doi:10.1038/nrc3675

Research Highlight
Published: 24 January 2014

Genomics

Seek and you shall find...

Gemma K. Alderton

Nature Reviews Cancer volume 14, page 75 (2014)Cite this article

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Klampfl et al. carried out whole-exome sequencing of matched samples from six patients with primary myelofibrosis and found CALR mutations in all tumour samples. Two of the samples had deletions in exon 9 (a 52 bp deletion was classified as the type 1 mutation) and four of the samples had a 5 bp insertion in exon 9 (the type 2 mutation). Furthermore, patients with CALR mutations, including those from an additional cohort, were JAK2⁻ and CALR mutation occurred in 88% of these JAK2⁻ MPNs.

the underlying cause of approximately another 30% of these MPN cases is unknown.

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References

Klampfl, T. et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N. Engl. J. Med. 369, 2379–2390 (2013)
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Nangalia, J. et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N. Engl. J. Med. 369, 2391–2405 (2013)
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