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Article

Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.

Journal of pediatric hematology/oncology - 1 Aug 2014

Ciambotti Benedetta, Mussolin Lara, d'Amore Emanuele S G, Pillon Marta, Sieni Elena, Coniglio Maria L, Ros Martina D, Cetica Valentina, Aricò Maurizio, Rosolen Angelo

Abstract excerpt

Anaplastic large cell lymphoma (ALCL) accounts for approximately 15% of all pediatric non-Hodgkin lymphomas. It has distinct clinical features, including frequent involvement of extranodal sites and rare localization to the central nervous system. As some presenting features of ALCL are in common with the hemophagocytic syndrome, we previously analyzed a small series of patients with ALCL for PRF1 mutations and...

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Source

Identifiers

PMID: 24309606
DOI: 10.1097/MPH.0000000000000073

Genes

PRF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.PMID 24309606Read ↗

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Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.Semantic proximity Read ↗

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