RESUMO
ABSTRACT: We present an extraordinary case of metastatic cutaneous melanoma to a pre-existing neurofibroma in a 75-year-old man with a history of primary invasive melanoma in an anatomically close vicinity. Histological examination of the metastatic melanoma showed a well-circumscribed intradermal nodule of frankly malignant epithelioid melanocytes without an intraepidermal component, surrounded and sharply demarcated from a diffuse spindle cell proliferation with morphological features of a neurofibroma. The spindle cell component showed bland cytologic features, with no mitotic activity or lymphocytic inflammation and no features of malignancy. By immunohistochemistry, both components expressed S100, while HMB45 positivity and complete loss of p16 were only observed in the epithelioid cells. The morphologically distinct areas were analyzed by fluorescent in situ hybridization, which demonstrated an abnormal profile (gain of RREB1 and homozygous loss of CDKN2A) in the epithelioid nodule; however, no abnormalities were detected in the spindle cell component. Next-generation sequencing showed somatic NRAS and PTEN mutations in the melanoma cells only. The overall molecular findings supported the immunomorphological diagnosis of metastatic melanoma within a neurofibroma over the potential differential diagnosis of melanoma with a neurofibroma-like spindle/desmoplastic component.
Assuntos
Melanoma , Segunda Neoplasia Primária , Neurofibroma , Neoplasias Cutâneas , Idoso , Humanos , Hibridização in Situ Fluorescente , Masculino , Melanoma/patologia , Neurofibroma/genética , Neoplasias Cutâneas/patologia , Melanoma Maligno CutâneoRESUMO
Carney complex (CNC) is an extremely rare, autosomal dominant genetic syndrome consisting of pigmented skin and mucosal changes with multiple endocrine and nonendocrine tumors, including the breast. Breast tumors are typically multiple and benign and are most commonly reported as myxoid fibroadenomas and/or intraductal papillomas. We present a young female patient with known CNC who presented with copious bloody nipple discharge with multiple breast lumps and discuss the breast imaging features regarding this complex and often underrecognized genetic condition.
Assuntos
Neoplasias da Mama , Complexo de Carney , Fibroadenoma , Derrame Papilar , Papiloma Intraductal , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Complexo de Carney/diagnóstico , Complexo de Carney/genética , Complexo de Carney/patologia , Feminino , Fibroadenoma/patologia , Humanos , Mamilos/patologia , Papiloma Intraductal/patologiaRESUMO
We present an exceptionally rare case of primary breast follicular lymphoma in a male patient, who presented to us with gynaecomastia for investigation. To our knowledge there have only been two other cases published in the literature to date. In Western Australia, there have been no cases in at least the past 10 years. This particular case highlights the importance of radiological and pathological correlation in making the diagnosis, particularly in the assessment of breast lumps in a male patient, where imaging and clinical findings alone could not make the diagnosis.
Assuntos
Neoplasias da Mama , Ginecomastia , Linfoma Folicular , Mama , Ginecomastia/diagnóstico por imagem , Humanos , Linfoma Folicular/diagnóstico por imagem , Masculino , RadiografiaRESUMO
Breast implant associated anaplastic large cell lymphoma (BIA-ALCL) is a rare condition related to textured breast implants. Recognition of characteristic imaging and pathological features are important, given the absence of symptoms can delay diagnosis, as illustrated by this case. Late-onset peri-implant effusion is commonly encountered whilst an associated mass or lymphadenopathy are rare. Clinical and radiological suspicion enables dedicated pathology work-up for diagnosis. Ultrasound is vital for initial work-up whilst MRI and PET-CT assist in staging. Surgical explantation is followed by adjuvant chemo-radiotherapy according to disease extent.