RESUMEN
Fibrous histiocytoma (FH) or dermatofibroma is a common cutaneous lesion mostly seen in adults and rare in the first two years of life. Two hundred sixty-seven patients younger than 18 years with a diagnosis of FH or dermatomyofibroma, a lesion with morphologic overlap with FH, were identified from the files of a single institution, with only 13 (4.8%) occurring in patients younger than 5 years. Ten patients had either underlying neurologic, autoimmune, or metabolic disorders or a family history of autoimmune conditions. Histologic review of hematoxylin and eosin staining and immunostaining on 75 FHs and dermatomyofibroma in 70 patients showed the following results: 33 classic FHs, 8 classic FHs characterized by a peculiar retiform morphology with thin fascicles of elongated cells forming a network reminiscent of the eruptive variant of FH, 19 deep/cellular variants, 5 aneurysmal variants, 3 lipidized variants (including two lesions in a patient affected by mucopolysaccharidosis IV), 3 dermatomyofibromas, and 4 isolated cases of hemosiderotic, granular cell atypical, and epithelioid FH. Immunostaining for factor XIIIa highlighted a dense network of dendritic cells in FH, which was significantly reduced in the FH with retiform morphology. Smooth muscle actin staining was positive in a high percentage of FHs (85.3%). The current series demonstrates that FH in children may show unique clinical and morphologic features. The retiform pattern with decreased dendritic cells found in congenital lesions and in two older patients with lesions in two locations might have a different pathogenesis, probably related to an altered immune response in very young patients.
Asunto(s)
Histiocitoma Fibroso Benigno/patología , Histiocitoma Fibroso Maligno/patología , Neoplasias Cutáneas/patología , Factores de Edad , Biomarcadores de Tumor/análisis , Biopsia , Niño , Preescolar , Femenino , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/inmunología , Histiocitoma Fibroso Maligno/química , Histiocitoma Fibroso Maligno/inmunología , Humanos , Inmunohistoquímica , Lactante , Masculino , Pronóstico , Neoplasias Cutáneas/química , Neoplasias Cutáneas/inmunologíaRESUMEN
In the 2018 World Health Organization Classification of Skin Tumors, a wide range of predominantly benign mesenchymal neoplasms are included in the fibroblastic, myofibroblastic, and "fibrohistiocytic" categories. By far the most common of these tumors is dermatofibroma (fibrous histiocytoma). There are many histologic variants of dermatofibroma, some of which (cellular, aneurysmal, and atypical) are associated with a higher risk of local recurrence; these variants may be mistaken for more aggressive tumor types, including sarcomas. Furthermore, distinguishing among the fibrous and "fibrohistiocytic" tumors can be a diagnostic challenge, given their sometimes-similar histologic appearances and confusing nomenclature. Immunohistochemistry and molecular genetic assays play a relatively limited role in the diagnosis of these tumor types, with notable exceptions (i.e., epithelioid fibrous histiocytoma and dermatofibrosarcoma protuberans). Proper recognition of dermatofibrosarcoma protuberans is critical, since this tumor type is associated with locally aggressive behavior; transformation to the fibrosarcomatous variant brings metastatic potential. In recent years, understanding of the molecular pathogenetic basis for cutaneous mesenchymal neoplasms has increased dramatically, with the discovery of gene rearrangements in some of these tumor types. In this review, the histologic features of the most common fibrous and "fibrohistiocytic" cutaneous mesenchymal neoplasms will be discussed, as well as recently identified molecular genetic alterations.
Asunto(s)
Dermatofibrosarcoma/química , Histiocitoma Fibroso Benigno/patología , Neoplasias Cutáneas/patología , Neoplasias de los Tejidos Blandos/patología , Terminología como Asunto , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Biopsia , Dermatofibrosarcoma/clasificación , Dermatofibrosarcoma/genética , Dermatofibrosarcoma/patología , Diagnóstico Diferencial , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/clasificación , Histiocitoma Fibroso Benigno/genética , Humanos , Inmunohistoquímica , Técnicas de Diagnóstico Molecular , Valor Predictivo de las Pruebas , Neoplasias Cutáneas/química , Neoplasias Cutáneas/clasificación , Neoplasias Cutáneas/genética , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/clasificación , Neoplasias de los Tejidos Blandos/genéticaRESUMEN
Epithelioid fibrous histiocytoma (EFH) is a rare lesion believed to arise from dermal microvascular unit fibroblasts and dendritic histiocytes. EFH has long been considered a morphologic variant of benign fibrous histiocytoma (dermatofibroma), with prominent epithelioid cytomorphology that can mimic both vascular and melanocytic neoplasms. The molecular basis for the relationship between EFH and benign fibrous histiocytoma has remained largely unknown, with some authors suggesting that EFH represents an entity that is biologically distinct from benign fibrous histiocytoma. Recent molecular studies have identified the presence of recurrent anaplastic lymphoma kinase (ALK) gene rearrangements, a phenomenon that has not been described in benign fibrous histiocytoma. These new molecular findings highlight the uniqueness of this rare tumor and may prove useful as a diagnostic tool for differentiation from other histologic mimics.
Asunto(s)
Células Epitelioides/patología , Histiocitoma Fibroso Benigno/patología , Neoplasias de los Tejidos Blandos/patología , Quinasa de Linfoma Anaplásico/genética , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Diagnóstico Diferencial , Células Epitelioides/química , Fusión Génica , Reordenamiento Génico , Predisposición Genética a la Enfermedad , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/genética , Humanos , Fenotipo , Valor Predictivo de las Pruebas , Pronóstico , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/genéticaRESUMEN
Langerhans cell (LC) histiocytoma is a neonatal tumor that often consists of a single, ulcerated nodule. Systemic involvement is rare, and LC histiocytoma is considered to be a variant of congenital, self-healing LC histiocytosis (also referred to as Hashimoto-Pritzker disease). In view of its low prevalence, LC histiocytoma is not always diagnosed in a clinical examination and requires histological confirmation. Furthermore, the histological and molecular features of LC histiocytoma have not been well characterized. Here, we report on 6 cases of this rare disease and review the corresponding literature. LC histiocytoma differs from classical self-healing LC histiocytosis with regard to the pathological features; we found that LC histiocytoma was associated with massive infiltration by histiocytes of various sizes and shapes (although often large) throughout the dermis and the superficial subcutis. Epidermotropism was rare, mitotic figures were not inconspicuous, and necrotic or calcified areas were often present. Immunohistochemical assessment revealed a mixture of different types of histiocytes (with CD1a CD207, CD1a CD207, and CD1a CD207 CD163 cells). Genetic testing was performed in 5 cases; it revealed a BRAF mutation (p.V600E and p.485_490delinsF) in 2 cases, a HRAS mutation (p.T58I) in 1 case, a combination of 2 PTEN mutations in another case (p.I224M and p. R234W), and no mutations in the fifth case. All the lesions regressed spontaneously, and none recurred during follow-up.
Asunto(s)
Histiocitos/patología , Histiocitoma Fibroso Benigno/patología , Histiocitosis de Células de Langerhans/patología , Células de Langerhans/patología , Neoplasias Cutáneas/patología , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Femenino , Predisposición Genética a la Enfermedad , Histiocitos/química , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/genética , Histiocitosis de Células de Langerhans/genética , Histiocitosis de Células de Langerhans/metabolismo , Humanos , Lactante , Recién Nacido , Células de Langerhans/química , Masculino , Mutación , Regresión Neoplásica Espontánea , Fenotipo , Neoplasias Cutáneas/química , Neoplasias Cutáneas/genéticaAsunto(s)
Neoplasias de la Mama/patología , Histiocitoma Fibroso Benigno/patología , Neoplasias Cutáneas/patología , Biomarcadores de Tumor/análisis , Biopsia , Neoplasias de la Mama/química , Neoplasias de la Mama/cirugía , Diagnóstico Diferencial , Femenino , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/cirugía , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Neoplasias Cutáneas/química , Neoplasias Cutáneas/cirugíaRESUMEN
Alterations in dermal collagen are noted in dermatofibroma, dermatofibrosarcoma protuberans, morphea, lichen sclerosus et atrophicus, hypertrophic scars, and keloids. The authors sought to determine whether variations in birefringence of collagen by polarized microscopy could be of help in diagnosing such conditions. Representative hematoxylin and eosin sections of 400 cases, including dermatofibroma, dermatofibrosarcoma protuberans, hypertrophic scars, keloid, morphea, and lichen sclerosus, were examined under polarized microscopy. Distinct patterns of birefringence of collagen for each disease were noted under polarized microscopy. This study highlights the use of polarized microscopy as adjunctive tool in differentiating different diseases with collagen alteration.
Asunto(s)
Colágenos Fibrilares/análisis , Microscopía de Polarización , Enfermedades de la Piel/metabolismo , Neoplasias Cutáneas/química , Piel/química , Biomarcadores de Tumor/análisis , Biopsia , Dermatofibrosarcoma/química , Dermatofibrosarcoma/patología , Diagnóstico Diferencial , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/patología , Humanos , Queloide , Liquen Escleroso y Atrófico , Valor Predictivo de las Pruebas , Esclerodermia Localizada , Piel/patología , Enfermedades de la Piel/patología , Neoplasias Cutáneas/patologíaRESUMEN
Atypical fibroxanthoma is considered to be a low-grade sarcoma, characterized by a proliferation of bizarre spindled cells. A case of a rare variant of this tumor, a clear-cell atypical fibroxanthoma, presenting with rapid growth on a 63-year-old female, is reported. The differential diagnosis of a clear cell proliferation and a review of the immunohistochemistry markers used in the diagnosis of atypical fibroxanthoma are discussed. In particular, the usefulness of markers such as CD10, procollagen 1, CD68, CD163, CD99, and S100A6, and the importance of negative markers such as S100, cytokeratin, and desmin are emphasized. Furthermore, the development of a keratoacanthoma at the site of previous Mohs surgery is recounted.
Asunto(s)
Biomarcadores de Tumor/análisis , Proliferación Celular , Histiocitoma Fibroso Benigno/química , Inmunohistoquímica , Sarcoma/química , Biopsia , Diagnóstico Diferencial , Femenino , Histiocitoma Fibroso Benigno/patología , Humanos , Persona de Mediana Edad , Clasificación del Tumor , Valor Predictivo de las Pruebas , Sarcoma/patología , Carga TumoralAsunto(s)
Neoplasias de la Mama/patología , Histiocitoma Fibroso Benigno/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/secundario , Anciano , Dermoscopía , Diagnóstico Diferencial , Femenino , Histiocitoma Fibroso Benigno/química , Humanos , Inmunohistoquímica , Receptores de Estrógenos/análisis , Receptores de Progesterona/análisis , Neoplasias Cutáneas/química , Neoplasias Cutáneas/patologíaRESUMEN
Sclerosing angiomatoid nodular transformation of the spleen (SANT) is a benign, extremely rare vascular lesion of the spleen with unknown pathogenesis. SANT is often discovered incidentally, and can sometimes be found in patients with a history of cancer. Based on absent definitive radiological signs and varying growth patterns, distinction from malignant processes such as metastasis can be very difficult. Therefore, surgical resection of the spleen is indicated in most cases of patients with history of cancer. We report a case of a bifocal manifestation of SANT in the spleen in a patient with history of colon cancer and newly-diagnosed metachronous liver metastases.
Asunto(s)
Colectomía , Neoplasias del Colon/patología , Neoplasias del Colon/cirugía , Histiocitoma Fibroso Benigno/patología , Neoplasias Hepáticas/secundario , Neoplasias Primarias Secundarias/patología , Neoplasias del Bazo/patología , Biomarcadores de Tumor/análisis , Biopsia , Neoplasias del Colon/química , Hepatectomía , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/diagnóstico por imagen , Histiocitoma Fibroso Benigno/cirugía , Humanos , Inmunohistoquímica , Neoplasias Hepáticas/química , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/cirugía , Masculino , Persona de Mediana Edad , Neoplasias Primarias Secundarias/química , Neoplasias Primarias Secundarias/diagnóstico por imagen , Neoplasias Primarias Secundarias/cirugía , Reoperación , Esplenectomía , Neoplasias del Bazo/química , Neoplasias del Bazo/diagnóstico por imagen , Neoplasias del Bazo/cirugía , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Dermatofibroma is a common benign fibrohistiocytic tumor with many clinicopathological variants. Myxoid dermatofibroma is one of these variants, which is characterized by marked stromal mucin deposition. This report presents a case of myxoid dermatofibroma on a great toe that had been slowly growing for two years. Histopathologically, the relatively well-circumscribed dermal tumor was separated from the epidermis by a small grenz zone. The tumor tissue consisted of oval to spindle-shaped cells with well-defined cell borders and spindly condensed nuclei. No cytologic atypia or mitotic figures were found. Although most of the tumor cells were embedded in a prominently myxoid stroma, typical features of classic dermatofibroma including a storiform growth pattern and more densely packed collagen were observed at the periphery. Immunohistochemically, the tumor cells showed positive staining for CD68 and CD99, and negative staining for CD34 and S-100. Histopathological differential diagnoses of myxoid dermatofibroma include soft tissue neoplasms with myxoid tumor stroma, such as superficial acral fibromyxoma, cellular digital fibroma, superficial angiomyxoma, myxoid dermatofibrosarcoma protuberans and low-grade fibromyxoid sarcoma. Immunohistochemical staining can be useful in the differential diagnosis of these tumors. This case highlights the challenges encountered in the histopathological interpretation of myxoid dermatofibroma. Pathologists should keep in mind the diagnosis of myxoid dermatofibroma when dealing with myxoid neoplastic lesions arising on acral sites.
Asunto(s)
Histiocitoma Fibroso Benigno/patología , Neoplasias Cutáneas/patología , Dedos del Pie/patología , Biomarcadores de Tumor/análisis , Biopsia , Diagnóstico Diferencial , Femenino , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/cirugía , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Neoplasias Cutáneas/química , Neoplasias Cutáneas/cirugía , Dedos del Pie/cirugía , Resultado del Tratamiento , Carga TumoralRESUMEN
Sclerosing angiomatoid nodular transformation (SANT) is a relatively new entity in the spleen, which usually presents in the form of single nodule. Only 5 multifocal SANT cases have been reported in English literature. The present case is the first report of a 38-years-old male patient with SANT in the form of multiple nodules, who has been cured via laparoscope. In comparison to solitary SANT, multifocal SANT occurs more likely in males than females and association with malignant neoplasm has not been described yet. Multifocal SANT as well as solitary SANT show some relationships with IgG4-related sclerosing disease.
Asunto(s)
Histiocitoma Fibroso Benigno/patología , Enfermedades del Bazo/patología , Adulto , Biomarcadores/análisis , Biopsia , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/cirugía , Humanos , Inmunohistoquímica , Laparoscopía , Masculino , Esplenectomía/métodos , Enfermedades del Bazo/metabolismo , Enfermedades del Bazo/cirugía , Tomografía Computarizada por Rayos X , Resultado del TratamientoAsunto(s)
Dermoscopía , Histiocitoma Fibroso Benigno/diagnóstico , Melanoma/diagnóstico , Neoplasias Cutáneas/diagnóstico , Anciano , Birrefringencia , Diagnóstico Diferencial , Femenino , Hemosiderina/análisis , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/patología , Humanos , Cuerpos de Inclusión/ultraestructura , Masculino , Melanoma/patología , Persona de Mediana Edad , Neoplasias Cutáneas/química , Neoplasias Cutáneas/patologíaRESUMEN
OBJECTIVES: While useful in diagnosing angiosarcomas, CD31 can also highlight histiocytes within soft tissue tumors and lead to errors in diagnosis. We sought to determine how often CD31 highlights cutaneous histiocytomas and histiocytoma mimics. METHODS: We examined eight epithelioid cell histiocytomas (ECHs), 12 xanthogranulomas (XGs), nine cases of Langerhans cell histiocytosis (LCH), eight reticulohistiocytomas, 11 xanthomas, 29 atypical fibroxanthomas, nine granular cell tumors, four cases of angiolymphoid hyperplasia with eosinophilia, nine intradermal Spitz nevi, and nine angiosarcomas with antibodies directed against CD31, CD34, CD163, and factor VIII. RESULTS: CD31 marked cells in three of 12 XGs, four of nine cases of LCH, one of eight reticulohistiocytomas, one of 11 xanthomas, 10 of 29 atypical fibroxanthomas, four of four cases of angiolymphoid hyperplasia with eosinophilia, nine of nine angiosarcomas, zero of nine granular cell tumors, and zero of eight ECHs. CD34 and factor VIII were negative in all nonvascular cases. CONCLUSIONS: Our results indicate that CD31 can mark lesional cells and imitate vascular tumors in cutaneous histiocytomas and histiocytoma mimics, an error that can be avoided by using a panel of antibodies.
Asunto(s)
Biomarcadores de Tumor/análisis , Hemangiosarcoma/diagnóstico , Histiocitos/metabolismo , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Maligno/diagnóstico , Molécula-1 de Adhesión Celular Endotelial de Plaqueta/análisis , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Hemangiosarcoma/química , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Maligno/química , Humanos , Inmunohistoquímica , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
Multinucleate cell angiohistiocytoma (MCA) is a benign fibrohistiocytic and vascular proliferation usually located on the extremities. It may be underdiagnosed owing to lack of recognition by clinicians and pathologists. We report a 48-year-old man with asymptomatic grouped reddish papules on the dorsum of his right hand for 8 years. Histopathological and immunohistochemical examinations revealed features of MCA with a fibrohistiocytic cell infiltrate in the dermis and multinucleate cells in the stroma. Recently, the dermoscopy aspects of MCA have been described. We add another observation of this useful tool and correlate it with clinical evolution.
Asunto(s)
Dermoscopía , Mano/patología , Histiocitoma Fibroso Benigno/diagnóstico , Neoplasias Cutáneas/diagnóstico , Antígenos CD/análisis , Antígenos de Diferenciación Mielomonocítica/análisis , Biomarcadores de Tumor/análisis , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/patología , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Cutáneas/química , Neoplasias Cutáneas/patología , Células del Estroma/química , Células del Estroma/patologíaRESUMEN
Previously unrecognized but clinicopathologically (and often molecularly) distinct types of soft tissue tumor continue to be characterized, allowing wider recognition, more consistent application of diagnostic criteria, more reliable prediction of tumor behavior and enhancement of existing classification schemes. Examples of such 'entities' that have become much better understood over the past decade or so include deep 'benign' fibrous histiocytoma, hemosiderotic fibrolipomatous tumor, PEComa, spindle cell liposarcoma, myoepithelial tumors of soft tissue and spindle cell/sclerosing rhabdomyosarcoma. These tumor types, as well as the insights which they have engendered, are briefly reviewed here.
Asunto(s)
Neoplasias de los Tejidos Blandos , Biomarcadores de Tumor/análisis , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/clasificación , Histiocitoma Fibroso Benigno/patología , Humanos , Liposarcoma/química , Liposarcoma/clasificación , Liposarcoma/patología , Mioepitelioma/química , Mioepitelioma/clasificación , Mioepitelioma/patología , Neoplasias de Células Epitelioides Perivasculares/química , Neoplasias de Células Epitelioides Perivasculares/clasificación , Neoplasias de Células Epitelioides Perivasculares/patología , Pronóstico , Rabdomiosarcoma/química , Rabdomiosarcoma/clasificación , Rabdomiosarcoma/patología , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/clasificación , Neoplasias de los Tejidos Blandos/patologíaAsunto(s)
Angiomatosis/diagnóstico , Biomarcadores de Tumor/genética , Puntos de Rotura del Cromosoma , Granuloma Anular/diagnóstico , Histiocitoma Fibroso Benigno/diagnóstico , Piel/patología , Muslo , Translocación Genética , Adolescente , Angiomatosis/genética , Angiomatosis/patología , Angiomatosis/cirugía , Biomarcadores de Tumor/análisis , Biopsia , Errores Diagnósticos , Femenino , Granuloma Anular/genética , Granuloma Anular/patología , Granuloma Anular/cirugía , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Benigno/patología , Histiocitoma Fibroso Benigno/cirugía , Humanos , Inmunohistoquímica , Valor Predictivo de las Pruebas , Piel/química , Resultado del TratamientoAsunto(s)
Color , Dermoscopía/métodos , Neoplasias de Cabeza y Cuello/patología , Histiocitoma Fibroso Benigno/patología , Microscopía de Polarización/métodos , Cuero Cabelludo/patología , Neoplasias Cutáneas/patología , Biomarcadores de Tumor/análisis , Diagnóstico Diferencial , Células Gigantes/patología , Neoplasias de Cabeza y Cuello/irrigación sanguínea , Neoplasias de Cabeza y Cuello/química , Neoplasias de Cabeza y Cuello/diagnóstico , Histiocitoma Fibroso Benigno/irrigación sanguínea , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/diagnóstico , Humanos , Índice Mitótico , Neovascularización Patológica/etiología , Neovascularización Patológica/patología , Fenómenos Ópticos , Neoplasias Cutáneas/irrigación sanguínea , Neoplasias Cutáneas/química , Neoplasias Cutáneas/diagnósticoRESUMEN
Dermatofibromas (DFs) are common benign fibrohistiocytic lesions, mostly affecting young adults. Many types of DF have been described, depending on architectural, cellular, and stromal peculiarities. Recently, a peculiar type of benign cutaneous tumor showing hemosiderotic DF-like stroma and apocrine glands has been described. We report 2 additional cases of DF without hemosiderotic changes showing entrapped apocrine glandular structures. We speculate about the origin of the glandular component and propose the term adenodermatofibroma for this type of lesions.