Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.
Hum Pathol
; 46(8): 1226-31, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26001331
ABSTRACT
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 exon 8 of SMARCB1, c.1118G > A, which destroyed the splice donor site of intron 8. Two schwannomas and the leiomyosarcoma of the patient retained the SMARCB1 mutation; in addition, the tumors showed loss of the normal chromosome 22. In conclusion, our findings enlarged the spectrum of SMARCB1-predisposing tumors and demonstrated, for the first time, the association of a malignant smooth muscle tumor to schwannomatosis. Therefore, clinicians should definitely be aware that a constitutional SMARCB1 mutation, which mainly predisposes to benign nerve sheath tumors, may also predispose to aggressive neoplasms throughout life, within an unexpected spectrum.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
/
Factores de Transcripción
/
Neoplasias Uterinas
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Proteínas Cromosómicas no Histona
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Neurofibromatosis
/
Proteínas de Unión al ADN
/
Leiomiosarcoma
/
Neoplasias Primarias Múltiples
/
Neurilemoma
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Hum Pathol
Asunto de la revista:
PATOLOGIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Italia