RESUMO
Ovarian ependymomas are rare glial neoplasms that typically occur in women on their third to fourth decades of life. They are histologically similar to ependymomas of the central nervous system but may have a broader immunophenotype. We describe a 27-year-old woman who presented to the emergency department with a 3-week history of cough and shortness of breath. Further workup disclosed a left pelvic mass and extensive intra-abdominal metastases. Pathology revealed sheets of monomorphic cells within a fibrillary stroma, papillary projections, true ependymal rosettes, and pseudorosettes consistent with an ependymoma of ovarian origin. Next-generation sequencing showed ATRX and NF2 copy number losses. Fluorescence in situ hybridization for EWSR1 demonstrated monosomy of 22q in greater than 90% of cells. These molecular alterations have not been previously reported in ovarian or extra-central nervous system ependymomas.
Assuntos
Ependimoma/genética , Neurofibromina 2/genética , Neoplasias Ovarianas/genética , Proteína Nuclear Ligada ao X/genética , Adulto , Ependimoma/patologia , Feminino , Dosagem de Genes , Humanos , Neoplasias Ovarianas/patologiaRESUMO
Dermatofibrosarcoma protuberans with fibrosarcomatous transformation (DFSP-FS) is a higher grade tumor arising from dermatofibrosarcoma protuberans (DFSP). Recent literature highlights its impact on recurrence rates, metastatic rates, and survival. In this article, we aim to describe our experience with 13 cases of DFSP-FS in terms of pathologic findings, molecular alterations, clinical outcomes, management, and also perform a short recent literature review.
Assuntos
Transformação Celular Neoplásica/genética , Dermatofibrossarcoma/terapia , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Cutâneas/terapia , Pele/patologia , Adolescente , Adulto , Idoso , Transformação Celular Neoplásica/patologia , Quimioterapia Adjuvante , Cromossomos Humanos Par 22/genética , Variações do Número de Cópias de DNA , Dermatofibrossarcoma/genética , Dermatofibrossarcoma/mortalidade , Intervalo Livre de Doença , Feminino , Seguimentos , Rearranjo Gênico , Humanos , Masculino , Pessoa de Meia-Idade , Cirurgia de Mohs , Recidiva Local de Neoplasia/patologia , Proteínas Proto-Oncogênicas c-sis/genética , Radioterapia Adjuvante , Sistema de Registros/estatística & dados numéricos , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/mortalidade , Adulto JovemRESUMO
Aneurysmal bone cyst (ABC) is an expansile cystic lesion that may affect any bone of the skeleton. Although exceedingly rare, lesions with histomorphologic characteristics of an ABC have reportedly originated within soft tissue. Extraskeletal ABC may mimic a variety of benign and malignant lesions and can be confused with other more common or rare giant cell-rich tumors of soft tissue, especially myositis ossificans. Clinical, radiological and histologic correlation is crucial in reaching the correct diagnosis. Cytogenetic and/or molecular genetic analysis is a useful adjunct in diagnosing these exquisitely rare lesions. Here we report a case of an ABC arising in an extraskeletal site and provide a comprehensive review of literature on this rare entity.