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Article

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

Human pathology - 1 Aug 2015

Paganini Irene, Sestini Roberta, Cacciatore Matilde, Capone Gabriele L, Candita Luisa, Paolello Concetta, Sbaraglia Marta, Dei Tos Angelo P, Rossi Sabrina, Papi Laura

Abstract excerpt

Schwannomatosis is a tumor predisposition syndrome characterized by development of multiple intracranial, spinal, and peripheral schwannomas. Constitutional alterations in either SMARCB1 or LZTR1 on 22q are responsible of the phenotype. We describe a 34-year-old woman who developed multiple benign peripheral sheath tumors and a uterine leiomyosarcoma. The patient carried a de novo constitutional alteration in...

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Topics

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Share to Chromosomal Proteins, Non-Histone
Share to Leiomyosarcoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multiplex Polymerase Chain Reaction

Share to Neoplasms, Multiple Primary

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Share to Neurofibromatoses

Share to SMARCB1 Protein

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Source

Identifiers

PMID: 26001331
DOI: 10.1016/j.humpath.2015.04.008

Genes

SMARCB1
LZTR1

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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