RESUMEN
Objective: To investigate the clinical and pathologic features, diagnosis and differential diagnosis of congenital hemangioma (CH). Methods: Forty cases of CH were diagnosed from January 2017 to December 2020 in Henan Provincial People's Hospital. The clinical and pathological and immunohistochemical data were analyzed, with review of literature. Results: There were 24 male and 16 female patients. The lesions were located in the head, neck (11 cases), limbs (14 cases), and trunk (15 cases). The clinical manifestations were congenital painless plaques or masses, the larger ones protruded on the skin surface, mostly dusky purple or bright red, with surrounding white halos. Under low magnification, the tumor was lobular and well demarcated, composed of neo-microvascular lumen of different sizes. The vascular endothelial cells were cuboidal or hobnail in appearance, forming stellar drainage vessels within the lobules. Extra-medullary hematopoiesis was seen in one case of rapidly involuting CH; there were different number of tortuous and dilated vascular lumen between the lobular structures, and some non-involuting CH cases were vascular malformations, which were devoid of lobulated structures. Immunohistochemistry showed that endothelial cells were strongly positive for CD31, CD34 and ERG, while D2-40 and GLUT-1 were negative. Conclusions: CH is a benign congenital vascular tumor with characteristic lobulated growth and abnormal blood vessels in the stroma. Pathological diagnosis often needs to be differentiated from infantile hemangioma, pyogenic granuloma, kaposiform hemangioendothelioma and vascular malformation.
Asunto(s)
Femenino , Humanos , Masculino , Células Endoteliales/patología , Hemangioendotelioma/patología , Hemangioma/patología , Síndrome de Kasabach-Merritt/patología , Sarcoma de Kaposi/patología , Neoplasias Cutáneas/patologíaRESUMEN
Abstract BACKGROUND: Kaposiform hemangioendothelioma is a rare, intermediate, malignant tumor. The tumor's etiology remains unknown and there are no specific treatments. OBJECTIVE: In this study, we performed exome sequencing using DNA from a Kaposiform hemangioendothelioma patient, and found putative candidates for the responsible mutations. METHOD: The genomic DNA for exome sequencing was obtained from the tumor tissue and matched normal tissue from the same individual. Exome sequencing was performed on HiSeq2000 sequencer platform. RESULTS: Among oncogenes, germline missense single nucleotide variants were observed in the TP53 and APC genes in both the tumor and normal tissue. As tumor-specific somatic mutations, we identified 81 candidate genes, including 4 nonsense changes, 68 missense changes and 9 insertions/deletions. The mutations in ITGB2, IL-32 and DIDO1 were included in them. CONCLUSION: This is a pilot study, and future analysis with more patients is needed to clarify: the detailed pathogenesis of this tumor, the novel diagnostic methods by detecting specific mutations, and the new therapeutic strategies targeting the mutation.
Asunto(s)
Humanos , Masculino , Preescolar , Mutación Missense , Síndrome de Kasabach-Merritt/genética , Síndrome de Kasabach-Merritt/patología , Exoma , Hemangioendotelioma/genética , Hemangioendotelioma/patología , Valores de Referencia , Análisis Mutacional de ADN , Imagen por Resonancia Magnética , Genes p53/genética , Genes APC , Tejido Subcutáneo/patología , Estudios de Asociación Genética , Frecuencia de los GenesRESUMEN
The association between vascular tumors and thrombocytopenia is rare. Kasabach-Merritt Syndrome is seen in childhood and is characterized by hemangiomas and thrombocytopenia. A 42 years-old man with a cerebellar hemangioblastoma and thrombocytopenia, admitted with a subarachnoid hemorrhage is reported. The patient was operated and required a splenectomy to manage the thrombocytopenia. After the splenectomy the patient developed a subdural hematoma that was operated. Despite the surgical treatment, the patient died.