Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 35
Filtrar
1.
Pathobiology ; 91(1): 89-98, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-36996802

RESUMO

INTRODUCTION: The incidence of myelodysplastic syndrome and acute myeloid leukemia is significantly increased in children with Down syndrome (DS). Within the revised 2016 WHO edition, these entities are jointly classified as myeloid leukemia associated with DS (ML-DS). Additionally, infants with DS may develop transient abnormal myelopoiesis (TAM) which is histomorphologically similar to ML-DS. While TAM is self-limiting, it is associated with an increased risk of subsequently developing ML-DS. Differentiating TAM and ML-DS is challenging but clinically critical. METHODS: We performed a retrospective review of ML-DS and TAM cases collected from five large academic institutions in the USA. We assessed clinical, pathological, immunophenotypical, and molecular features to identify differentiating criteria. RESULTS: Forty cases were identified: 28 ML-DS and 12 TAM. Several features were diagnostically distinct, including younger age in TAM (p < 0.05), as well as presentation with clinically significant anemia and thrombocytopenia in ML-DS (p < 0.001). Dyserythropoiesis was unique to ML-DS, as well as structural cytogenetic abnormalities aside from the constitutional trisomy 21. Immunophenotypic characteristics of TAM and ML-DS were indistinguishable, including the aberrant expression of CD7 and CD56 by the myeloid blasts. DISCUSSION: The findings of the study confirm marked biological similarities between TAM and ML-DS. At the same time, several significant clinical, morphological, and genetic differences were observed between TAM and ML-DS. The clinical approach and the differential diagnosis between these entities are discussed in detail.


Assuntos
Síndrome de Down , Leucemia Mieloide Aguda , Reação Leucemoide , Lactente , Criança , Humanos , Síndrome de Down/complicações , Síndrome de Down/genética , Síndrome de Down/patologia , Mutação , Reação Leucemoide/diagnóstico , Reação Leucemoide/genética , Reação Leucemoide/complicações
5.
J Natl Compr Canc Netw ; 19(10): 1116-1121, 2021 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-34666310

RESUMO

This case report describes an 18-year-old woman with an unusual epithelioid tumor of the omentum with a novel PRRC2B-ALK fusion. Although the atypical pathologic features raised significant diagnostic challenges, expression of CD30 on tumor cells and detection of an ALK rearrangement provided critical information for selecting targeted therapy in a patient not suitable for surgical resection. Despite an initially promising therapeutic response, the patient died. The efficacy of treatment was confirmed by the lack of viable tumor cells at autopsy. This case highlights the role of timely targeted therapy in patients with rare tumors and novel actionable molecular targets.


Assuntos
Sarcoma , Adolescente , Quinase do Linfoma Anaplásico/genética , Feminino , Humanos , Sarcoma/diagnóstico , Adulto Jovem
7.
Pediatr Dev Pathol ; 24(3): 264-268, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33683983

RESUMO

We report comprehensive characterization of an unusual collision tumor comprising extramedullary plasmacytomas and nasopharyngeal angiofibroma in a pediatric patient, which has yet to be reported. Histologically, the nasopharyngeal angiofibroma showed typical morphology with a diffuse, dense plasmacytic infiltrate in the stroma. The neoplastic plasma cells showed a spectrum of well-differentiated, plasmablastic, and anaplastic morphology, Epstein-Barr virus encoded RNA (EBER) positivity, and aberrant immunophenotype. Fluorescence in situ hybridization using a plasma cell myeloma targeted panel detected gains of 1q21.3 (CKS1B, x3), 3q27 (BCL6, x4), and 11q22.3 (ATM, x3), but no rearrangement of ALK and MYC. A 50-gene next generation sequencing lymphoma panel failed to detect any pathogenic mutation. Plasmacytoma with EBER positivity and plasmablastic morphology must be distinguished from plasmablastic lymphoma due to different clinical management and prognosis. This case highlights the importance of a thorough pathological evaluation of a mass lesion with synchronous neoplastic processes.


Assuntos
Angiofibroma/patologia , Neoplasias Nasofaríngeas/patologia , Neoplasias Primárias Múltiplas/patologia , Plasmocitoma/patologia , Adolescente , Infecções por Vírus Epstein-Barr/complicações , Humanos , Masculino , Neoplasias Nasofaríngeas/virologia , Plasmocitoma/virologia
9.
Pediatr Dev Pathol ; 24(1): 51-55, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33023391

RESUMO

We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilateral lung metastases following curettage, wide resection, and amputation. Concurrent peripheral blood eosinophilia and pleural effusion with marked eosinophilia (47%) were present. To discover genetic changes driving tumor metastasis, genomic and transcriptome profiling of the metastatic lung mass as well as germline analysis were performed. Whole exome sequencing detected a histone H3F3A p.G35V missense mutation in tumor cells. RNA sequencing revealed overexpression of receptor activator of nuclear factor kappa-B ligand (RANKL). The patient is alive with no residual disease and uncompromised respiratory function 29 months after amputation of primary tumor and 19 months after surgical resection of his metastatic lung disease.


Assuntos
Neoplasias Ósseas/patologia , Falanges dos Dedos da Mão/patologia , Tumor de Células Gigantes do Osso/secundário , Neoplasias Pulmonares/secundário , Adolescente , Amputação Cirúrgica , Neoplasias Ósseas/cirurgia , Curetagem , Falanges dos Dedos da Mão/cirurgia , Tumor de Células Gigantes do Osso/cirurgia , Humanos , Neoplasias Pulmonares/cirurgia , Masculino , Metastasectomia , Pneumonectomia , Resultado do Tratamento
16.
Arch Pathol Lab Med ; 143(2): 212-221, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29979612

RESUMO

CONTEXT.­: Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts, hemosiderotic fibrolipomatous tumor (HFLT), and myxoinflammatory fibroblastic sarcoma (MIFS) are 3 distinct entities of low-grade spindle cell mesenchymal neoplasm. These tumors have similar clinical presentations and partially overlapping but distinctive pathologic features. A recurrent translocation, t(1;10)(p22;q24), has been detected in a subset of PHAT, HFLT, MIFS, and HFLT/MIFS hybrid cases. Translocation t(1;10)(p22;q24) involves transforming growth factor ß-receptor 3 ( TGFBR3) and meningioma-expressed antigen 5 ( MGEA5) genes on chromosomes 1p22 and 10q24, respectively. However, the percentage of translocation in PHAT, HFLT, and MIFS varies significantly among different studies. The relationship among these tumors has been a controversial topic among experts. OBJECTIVE.­: To discuss the diagnostic and functional significance of translocation t(1;10)(p22;q24) TGFBR3/MGEA5 rearrangement in HFLT, PHAT, and MIFS. DATA SOURCES.­: PubMed was used for this study. CONCLUSIONS.­: Diagnosis of HFLT, PHAT, and MIFS is challenging because of a lack of unique morphologic, immunophenotypic, molecular, and cytogenetic markers. The recurrent t(1;10)(p22;q24) translocation and/or TGFBR3/MGEA5 rearrangement was reported in 55 patients, with a relatively even distribution among HFLT, PHAT, and MIFS (17 HFLT, 15 MIFS, 13 MIFS/HFLT, and 10 PHAT). This indicates that current morphology-based diagnostic criteria do not identify reliably the subset of soft tissue tumor with t(1;10) translocation. Genetic heterogeneity of these tumors is supported by the recent detection of a mutually exclusive, second recurrent genetic change, t(7;17) TOM1L2-BRAF translocation or BRAF amplification, in a subset of MIFS.


Assuntos
Antígenos de Neoplasias/genética , Histona Acetiltransferases/genética , Hialuronoglucosaminidase/genética , Proteoglicanas/genética , Receptores de Fatores de Crescimento Transformadores beta/genética , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 10/genética , Feminino , Rearranjo Gênico , Humanos , Masculino , Pessoa de Meia-Idade , Translocação Genética
17.
Ann Hematol ; 97(10): 1775-1783, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29872884

RESUMO

Chromosome translocation t(16;21)(q24;q22)/RUNX1-RUNX1T3 is an infrequent but recurrent chromosomal abnormality identified in myeloid neoplasms, with only 25 cases have been reported to date. Here, we report eight cases (six women and two men) of myeloid neoplasms associated with t(16;21)(q24;q22): five with therapy-related myeloid neoplasms, two with relapsed acute myeloid leukemia (AML), and one with blast phase of chronic myeloid leukemia. Morphologic and immunophenotypic features include granulocytic dysplasia, blasts with prominent perinuclear hof, large orange-pink granules, long and slim Auer rods, and aberrant expression of CD19. Six patients received AML-based regimens, and five achieved complete remission after initial induction therapy. Our study suggests that myeloid neoplasm with t(16;21)/RUNX1-RUNX1T1 resembles AML with t(8;21)(q22;q22)/RUNX1-RUNX1T1, in regard to morphology, immunophenotype, and response to therapy. Therefore, the clinical management of AML with t(8;21) may provide the best model for patients with myeloid neoplasms with t(16;21).


Assuntos
Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 21/genética , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Leucemia Mieloide Aguda/genética , Transtornos Mieloproliferativos/genética , Proteínas de Fusão Oncogênica/genética , Proteína 1 Parceira de Translocação de RUNX1/genética , Proteínas Repressoras/genética , Translocação Genética , Proteínas Supressoras de Tumor/genética , Adulto , Idoso , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Humanos , Imunofenotipagem , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/patologia , Masculino , Pessoa de Meia-Idade , Mimetismo Molecular , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/patologia
18.
Hum Pathol ; 56: 101-8, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27257042

RESUMO

Burkitt lymphoma presenting in the thyroid gland is rare, and only a few cases have been reported. We retrospectively reviewed 7 patients diagnosed with Burkitt lymphoma of the thyroid gland between 2000 and 2015. There were 4 men and 3 women with a median age of 41 years (range, 19-49 years). All patients presented with a rapidly growing neck mass associated with upper airway compression in 5 (71%) patients. Two patients presented with localized (stage I/II) and 5 patients with disseminated (stage III/IV) disease. All cases showed morphologic and immunophenotypic features of Burkitt lymphoma with MYC rearrangement in all 5 cases tested. One case showed evidence of concurrent Hashimoto thyroiditis. Six of 7 patients were treated primarily with rituximab, hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone. One patient was treated primarily with dose-adjusted rituximab, etoposide, prednisolone, vincristine, and cyclophosphamide. At the end of the study period, 5 patients were alive: 4 in complete remission and 1 with persistent disease. Two patients died with persistent disease (median follow-up, 25 months; range, 12-361 months). We conclude that Burkitt lymphoma of the thyroid gland shows clinicopathologic features similar to sporadic Burkitt lymphoma at other anatomic sites, but patients present at an older median age. The clinical course is aggressive with a high frequency of disseminated disease at diagnosis; however, a subset of patients responds well to aggressive chemotherapy.


Assuntos
Linfoma de Burkitt/patologia , Neoplasias da Glândula Tireoide/patologia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biópsia por Agulha Fina , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/genética , Linfoma de Burkitt/imunologia , Feminino , Rearranjo Gênico , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Proteínas Proto-Oncogênicas c-myc/genética , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/imunologia , Fatores de Tempo , Resultado do Tratamento , Carga Tumoral , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA