RESUMO
BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is a sarcoma with a high grade of malignancy originating in the nerve sheath components, fibroblasts, perineural cells, and Schwann cells. It is associated with neurofibromatosis type 1 (NF-1) with a risk of 10-13%. CLINICAL CASES: We present two cases of NF-1-associated MPNST. The first patient presented moderate pain with no apparent cause, in addition to the presence of intraspinal lesion demonstrated by nuclear magnetic resonance imaging (NMRI), which was managed surgically on two occasions. Histologically, it corresponded to a neurofibromatosis lesion in transition with malignant neoplasm. The second case manifested with thoracic kyphoscoliosis, pain, and an increase in volume. Associated with the deformity, MRI showed a withering tumor in the posterior thoracic region (T1-T8), observing an infiltrating, cellular sarcomatous neoplasm with immunopositivity for S-100 protein and vimentin. CONCLUSIONS: MPNSTs are sarcomas with a high index of recurrence with the ability to produce distant metastasis during early stages. Despite wide resection, patients did not survive due to the advancement and size of the lesions (determining factors in the prognosis). Due to the progressive growth of MPNST and the anatomic difficulty for its approach, there should be strict surveillance of patients with NF-1 for early detection of malignant transformation in these lesions.
Assuntos
Vértebras Cervicais , Neoplasias de Bainha Neural/genética , Neurofibromatose 1/patologia , Neoplasias da Coluna Vertebral/genética , Vértebras Torácicas , Adulto , Biomarcadores Tumorais/análise , Evolução Fatal , Feminino , Humanos , Cifose/etiologia , Laminectomia , Imageamento por Ressonância Magnética , Masculino , Recidiva Local de Neoplasia/radioterapia , Síndromes de Compressão Nervosa/etiologia , Neoplasias de Bainha Neural/química , Neoplasias de Bainha Neural/complicações , Neoplasias de Bainha Neural/cirurgia , Proteínas S100/análise , Escoliose/etiologia , Neoplasias da Coluna Vertebral/química , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgia , Raízes Nervosas Espinhais , Vimentina/análise , Adulto JovemRESUMO
Introducción: El tumor de vaina nerviosa periférica maligno (TVNPM) es un sarcoma de alto grado de malignidad, originado de componentes de las vainas nerviosas, fibroblastos, células perineurales y células de Schwann, que se asocia a neurofibromatosis tipo 1 con un riesgo de 10 a 13 %. Casos clínicos: Se presentan dos casos de TVNPM asociado a neurofibromatosis tipo 1. El primero presentó dolor moderado sin causa aparente, además de lesión intrarraquídea en resonancia magnética nuclear, manejada quirúrgicamente en dos ocasiones. Histológicamente correspondió a lesión neurofibromatosa en transición con neoplasia maligna. El segundo se manifestó con cifoescoliosis torácica, dolor y aumento de volumen. Asociado a la deformidad, la resonancia magnética mostró tumor en la región torácica posterior (T1 a T8), que fue resecado; se identificó neoplasia sarcomatosa infiltrante, muy celular, con inmunopositividad para proteína S100 y vimentina. Conclusiones: Los TNVPM son sarcomas con alto índice de recurrencia, capaces de producir metástasis a distancia desde etapas tempranas. A pesar de la resección amplia, los pacientes descritos no sobrevivieron dado el avance y tamaño de las lesiones. Por el crecimiento progresivo de los TNVPM y la dificultad anatómica para su abordaje, deberá tenerse un control estrecho de los pacientes con neurofibromatosis tipo 1 a fin de identificar tempranamente la transformación maligna de las lesiones.
BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is a sarcoma with a high grade of malignancy originating in the nerve sheath components, fibroblasts, perineural cells, and Schwann cells. It is associated with neurofibromatosis type 1 (NF-1) with a risk of 10-13%. CLINICAL CASES: We present two cases of NF-1-associated MPNST. The first patient presented moderate pain with no apparent cause, in addition to the presence of intraspinal lesion demonstrated by nuclear magnetic resonance imaging (NMRI), which was managed surgically on two occasions. Histologically, it corresponded to a neurofibromatosis lesion in transition with malignant neoplasm. The second case manifested with thoracic kyphoscoliosis, pain, and an increase in volume. Associated with the deformity, MRI showed a withering tumor in the posterior thoracic region (T1-T8), observing an infiltrating, cellular sarcomatous neoplasm with immunopositivity for S-100 protein and vimentin. CONCLUSIONS: MPNSTs are sarcomas with a high index of recurrence with the ability to produce distant metastasis during early stages. Despite wide resection, patients did not survive due to the advancement and size of the lesions (determining factors in the prognosis). Due to the progressive growth of MPNST and the anatomic difficulty for its approach, there should be strict surveillance of patients with NF-1 for early detection of malignant transformation in these lesions.
Assuntos
Humanos , Masculino , Feminino , Adulto , Vértebras Cervicais , Neoplasias de Bainha Neural/genética , Neoplasias da Coluna Vertebral/genética , Neurofibromatose 1/patologia , Vértebras Torácicas , Cifose/etiologia , Escoliose/etiologia , Evolução Fatal , Laminectomia , Imageamento por Ressonância Magnética , Biomarcadores Tumorais/análise , Neoplasias de Bainha Neural/química , Neoplasias de Bainha Neural/complicações , Neoplasias de Bainha Neural/cirurgia , Neoplasias da Coluna Vertebral/química , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgia , /análise , Recidiva Local de Neoplasia/radioterapia , Raízes Nervosas Espinhais , Síndromes de Compressão Nervosa/etiologia , Vimentina/análise , Adulto JovemRESUMO
Sclerosing perineurioma is a variant of extraneural soft tissue perineurioma that occurs in the distal extremities of young adults. They are composed of small, plump, spindle-shaped, or epithelioid perineurial cells that coexpress epithelial membrane antigen (EMA), glut-1, claudin 1, collagen type IV, laminin, and are negative for S-100 protein. Once locally excised, sclerosing perineurioma does not recur or metastasize. Adipocytic component has been observed occasionally in peripheral nerve sheath tumors. In particular, only one report has previously detailed histopathological features of a superficial soft tissue perineurioma harboring lipomatous areas. Herein, we report a unique case of sclerosing perineurioma showing adipocytic component. Knowledge of this phenomenon is important to reach a correct diagnosis and to avoid unnecessary aggressive local excision.
Assuntos
Lipoma/patologia , Neoplasias de Bainha Neural/patologia , Neoplasias Cutâneas/patologia , Neoplasias de Tecidos Moles/patologia , Adipócitos/química , Adipócitos/patologia , Adulto , Biomarcadores Tumorais/análise , Feminino , Dedos , Humanos , Lipoma/química , Lipoma/cirurgia , Neoplasias de Bainha Neural/química , Neoplasias de Bainha Neural/cirurgia , Esclerose/patologia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/cirurgia , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/cirurgiaRESUMO
Peripheral nerves consist of 3 layers with differing characteristics: the endoneurium, perineurium, and epineurium. The perineurium represents a continuum with the pia-arachnoid from the central nervous system and extends distally with the sheath of capsular cells of peripheral sensorial organs and propioceptive receptors. It is made of layers of flattened cells surrounded by a basement membrane and collagen fibers, forming concentrically laminated structures around single nerve fascicles. Functionally, the perineurium modulates external stretching forces (that could be potentially harmful for nerve fibers), and along with endoneurial vessels, forms the blood-nerve barrier. Multiple pathologic conditions associated with the perineurium have been described. Perineurial invasion is considered an important prognostic factor in several malignant neoplasms. Perineuriomas are true benign infrequent perineurial cell neoplasms that have been divided in 2 categories: those with intraneural localization and a more common extraneural (soft tissue) group, including sclerosing and reticular variants. Sporadic cases of malignant perineuromas have been reported. Interestingly, neurofibromas and malignant peripheral nerve sheath tumors may also display perineurial cell differentiation. The histologic appearance of perineuriomas may overlap with other soft tissue spindle cell neoplasms. Immunohistochemistry is imperative for the diagnosis, although in certain cases ultrastructural studies may be needed. Typical perineuriomas are positive for epithelial membrane antigen, glucose transporter-1-1, and claudin-1, and negative for S-100 protein and neurofilaments. Perineuriomas have mostly simple karyotypes, with one or few chromosomal rearrangements or numerical changes and it seems that specific cytogenetic aberrations may correlate with perineurioma subtype.