RESUMO
OBJECTIVE: To investigate the clinicopathologic features and differential diagnoses of non-involuting congenital hemangioma (NICH) in children. METHODS: The clinical, morphologic and immunophenotypic characteristics of 22 cases of NICH were retrospectively analyzed. RESULTS: The mean patients' age at diagnosis was 4.2 years, with a male to female ratio of 1.75:1. The tumors were located in the head and face (5 cases), neck (3 cases), body (6 cases), upper limbs (5 cases), and lower limbs (3 cases). Histologically, the tumor was dominated by rather large lobules of small vessels that were mostly rounded, curved, small and thin-walled, and were lined by endothelial cells surrounded by one or more layers of pericytes. The center of the lobules was occupied by one or more thin or thick walled vessels, which were surrounded by fibrous and fatty tissue, which contained abnormal arterial and venous structures. At the edge of the lobules there were lymphatic vessels. Immunohsitochemical study showed that tumor cells in NICH were positive for CD34 (22/22), CD31 (22/22), SMA (22/22), vimentin (22/22) and Glut1 (0/22). D2-40 expression was located at the edge of the capillary lobules. CONCLUSIONS: NICH is a benign lesion. Clinically and pathologically, it needs to be differentiated from rapidly involuting congenital hemangioma, infantile hemangiomas, tufted angioma, vascular malformation, and others.
Assuntos
Hemangioma Capilar/congênito , Hemangioma Capilar/diagnóstico , Biomarcadores Tumorais , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Estudos RetrospectivosAssuntos
Cromossomos Humanos Par 21 , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , Criança , Amplificação de Genes , Deleção de Genes , Humanos , Variante 6 da Proteína do Fator de Translocação ETSRESUMO
BACKGROUND: Non-Hodgkin lymphoma is the fourth most common malignant tumors in children, Burkitt lymphoma (BL) accounts for 30-50% of all pediatric lymphomas. The aim of this study was to investigate the clinicopathologic features, immunophenotype, Epstein-Barr virus (EBV) infection and c-myc gene rearrangement of sporadic BL in children. METHODS: Ninety-two cases of pediatric BL were retrospectively analyzed for clinical features, immunohistochemistry, EBV-encoded RNA (EBER) status by in situ hybridization and c-myc gene rearrangement by fluorescence in situ hybridization. RESULTS: In the 92 cases, male is predominant in sex distribution (M: F = 3.38:1). The average age at diagnosis was 4.97 years. Polypoid BL showed a lower clinical stage (P = 0.002), and advanced clinical stage and low serum albumin level at diagnosis were associated with poor outcome (P = 0.024 and 0.053, respectively). The positive expression of CDl0, B-cell lymphoma-6, MUMl and EBER were 95.7% (88 cases), 92.4% (85 cases), 22.8% (21 cases), 41.3% (38 cases), respectively. The expression of MUM1 were not associated with EBV infection status (P = 1.000). c-myc gene rearrangement was detected in 94.6% (87/92). Clinical treatment information for 54 cases was collected, 21 patients died of tumor after surgery alone, 33 patients received surgery and chemotherapy, and of which six patients died shortly afterwords (MUM1 positive expression in 3 cases, P = 0.076). CONCLUSIONS: The anatomical location, growth pattern and serum albumin level of BL were associated with biological behavior. MUM1 may be a potential adverse prognostic marker, and not associated with EBV infection status.
Assuntos
Linfoma de Burkitt/diagnóstico , Adolescente , Linfoma de Burkitt/epidemiologia , Linfoma de Burkitt/metabolismo , Criança , Pré-Escolar , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lactente , Fatores Reguladores de Interferon/metabolismo , Masculino , Distribuição por SexoAssuntos
Tumor Rabdoide/patologia , Neoplasias Cutâneas/patologia , Proteínas Cromossômicas não Histona/metabolismo , Proteínas de Ligação a DNA/metabolismo , Diagnóstico Diferencial , Seguimentos , Humanos , Lactente , Recém-Nascido , Queratinas/metabolismo , Masculino , Mucina-1/metabolismo , Fosfopiruvato Hidratase/metabolismo , Tumor Rabdoide/metabolismo , Tumor Rabdoide/cirurgia , Rabdomiossarcoma/metabolismo , Rabdomiossarcoma/patologia , Proteínas S100/metabolismo , Proteína SMARCB1 , Sarcoma/metabolismo , Sarcoma/patologia , Sarcoma de Células Claras/metabolismo , Sarcoma de Células Claras/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/cirurgia , Fatores de Transcrição/metabolismo , Vimentina/metabolismoAssuntos
Neoplasias Renais/patologia , Tumor Rabdoide/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Dactinomicina/administração & dosagem , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Lactente , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/metabolismo , Neoplasias Renais/cirurgia , Masculino , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Tumor Rabdoide/tratamento farmacológico , Tumor Rabdoide/metabolismo , Tumor Rabdoide/cirurgia , Rabdomiossarcoma/patologia , Sarcoma de Células Claras/metabolismo , Sarcoma de Células Claras/patologia , Sinaptofisina/metabolismo , Vimentina/metabolismo , Vincristina/administração & dosagem , Tumor de Wilms/patologiaRESUMO
OBJECTIVE: To investigate the molecular genetic features and diagnostic aspects of sporadic Burkitt's lymphoma (BL) in children. METHODS: Tissue microarray was constructed to include 64 cases of pediatric BL and 6 cases of pediatric diffuse large B-cell lymphoma (DLBCL). Immunohistochemistry and fluorescence in-situ hybridization for c-myc, bcl-2, bcl-6, IgH, myc/IgH and bcl-2/IgH gene were performed. Cases of pediatric Burkitt's lymphomas were subclassified into three groups based on their cellular orgins: the germinal center (GC) group, the late-germinal center (late-GC) group and the post-germinal center (post-GC) group. RESULTS: Among 64 Burkitt's lymphomas studied, expression of CD20, CD10, bcl-6, bcl-2 and MUM1 by immunohistochemistry were 100% (64 cases), 98.4% (63 cases), 96.9% (62 cases), 0 (0 cases) and 23.4% (15 cases), respectively. Various gene rearrangements were found involving the c-myc 93.1% (54/58 cases) and IgH 82.8% (48/58 cases). Detailed rearrangements are as follows: 46 cases (85.2%) myc/IgH gene translocation along with c-myc and IgH gene rearrangement; 4 cases (7.4%) c-myc gene rearrangement without IgH and myc/IgH abnormality; 4 cases (7.4%) without c-myc, IgH or myc/IgH gene rearrangement. No case showed bcl-2 gene abnormality (100%). Fifty nine cases showed normal bcl-6 gene status. One case had bcl-6 gene rearrangement and amplification with the pathologic and immunophenotypic characteristics of BL, leading to a revised pathological diagnosis of B-cell lymphoma, unclassifiable with features intermediate between diffuse large B-cell lymphoma and Burkitt's lymphoma (DLBCL/BL). Two cases showed c-myc gene rearrangement. Two cases showed bcl-6 gene amplification and 6 DLBCL cases had a normal status of bcl-2/IgH. CONCLUSIONS: A majority of pediatric sporadic BL arise from the germinal center B cells, most of which have c-myc gene rearrangement. It is useful to distinguish BL and DLBCL by multiple genes detection.
Assuntos
Antígenos CD20/metabolismo , Linfoma de Burkitt/genética , Linfoma de Burkitt/metabolismo , Rearranjo Gênico de Cadeia Pesada de Linfócito B , Cadeias Pesadas de Imunoglobulinas/genética , Linfoma de Burkitt/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Genes myc/genética , Humanos , Linfoma Difuso de Grandes Células B/genética , Linfoma Difuso de Grandes Células B/metabolismo , Linfoma Difuso de Grandes Células B/patologia , Masculino , Neprilisina/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Proteínas Proto-Oncogênicas c-bcl-6/metabolismo , Translocação GenéticaAssuntos
Mesenquimoma/patologia , Rabdomiossarcoma Embrionário/patologia , Neoplasias Vulvares/patologia , Desmina/metabolismo , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Lactente , Antígeno Ki-67/metabolismo , Mesenquimoma/tratamento farmacológico , Mesenquimoma/metabolismo , Mesenquimoma/cirurgia , Neoplasias de Bainha Neural/metabolismo , Neoplasias de Bainha Neural/patologia , Fosfopiruvato Hidratase/metabolismo , Rabdomiossarcoma Embrionário/tratamento farmacológico , Rabdomiossarcoma Embrionário/metabolismo , Rabdomiossarcoma Embrionário/cirurgia , Teratoma/metabolismo , Teratoma/patologia , Neoplasias Vulvares/tratamento farmacológico , Neoplasias Vulvares/metabolismo , Neoplasias Vulvares/cirurgiaRESUMO
OBJECTIVE: To study the clinicopathologic features, immunohistochemical findings, EBV and c-myc gene status of intra-abdominal non-Hodgkin B-cell lymphoma occurring in children. METHODS: Seventy-four cases of pediatric intra-abdominal non-Hodgkin B-cell lymphoma were retrieved from the archival file. The cases were classified according to the 2008 WHO classification. Tissue microarray including tumor tissues from all the 74 cases was produced. Immunohistochemical study (SP method) for CD20, CD3, CD79a, CD10, bcl-6, MUM1, bcl-2, CD43, CD38 and Ki-67 was performed. In-situ hybridization for Epstein-Barr virus-encoded RNA (EBER) and fluorescence in-situ hybridization for c-myc gene were also carried out. RESULTS: Amongst the 74 cases studied, 65 of them (87.8%) were Burkitt lymphoma (BL), 4 cases (5.4%) were diffuse large B-cell lymphoma (DLBCL) and the remaining 5 cases (6.8%) showed features in-between DLBCL and BL (DLBCL/BL). The patients often presented with abdominal pain, abdominal masses, ileus and intussusception. The ileocecal bowel wall and mesenteric lymph nodes were commonly involved. The lymphoma cells were of high histologic grade and suggested an aggressive clinical behavior. The staining for CD20 and CD79a were positive in all of the cases, while CD3 was negative. The positive rates of CD10, bcl-6, bcl-2, MUM1, CD43, CD38 and EBER in BL were 96.9% (63 cases), 95.4% (62 cases), 0 (0 case), 23.1% (15 cases), 70.8% (46 cases), 96.9% (63 cases) and 41.5% (27 cases), respectively. Fifty-four cases carried translocation of c-myc gene. As for DLBCL, the positive cases of CD10, bcl-6, bcl-2, MUM1, CD43, CD38 and EBER were 3 cases, 2 cases, 3 cases, 2 cases, 2 cases, 2 cases and 0 case, respectively. One of these cases showed c-myc gene translocation. Amongst the 4 cases of DLBCL, 2 of them belonged to germinal center B-cell-like subtype, while the remaining 2 cases were of non-germinal center B-cell-like subtype. The expression rates of CD10, bcl-6, bcl-2, MUM1, CD43, CD38 and EBER in DLBCL/BL were 5/5, 4/5, 0, 3/5, 5/5, 3/5 and 0, respectively. Three of the cases were positive for c-myc gene translocation. CONCLUSIONS: The majority of pediatric intra-abdominal non-Hodgkin B-cell lymphoma belonged to BL. They have characteristic clinical presentation and sites of predilection and are often associated with an aggressive clinical behavior. Thorough morphologic assessment, immunohistochemistry and in-situ hybridization play an important role in subtyping this group of lymphoid malignancy.