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1.
CA Cancer J Clin ; 71(1): 34-46, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32997807

RESUMO

The delivery of cancer care has never changed as rapidly and dramatically as we have seen with the coronavirus disease 2019 (COVID-19) pandemic. During the early phase of the pandemic, recommendations for the management of oncology patients issued by various professional societies and government agencies did not recognize the significant regional differences in the impact of the pandemic. California initially experienced lower than expected numbers of cases, and the health care system did not experience the same degree of the burden that had been the case in other parts of the country. In light of promising trends in COVID-19 infections and mortality in California, by late April 2020, discussions were initiated for a phased recovery of full-scale cancer services. However, by July 2020, a surge of cases was reported across the nation, including in California. In this review, the authors share the response and recovery planning experience of the University of California (UC) Cancer Consortium in an effort to provide guidance to oncology practices. The UC Cancer Consortium was established in 2017 to bring together 5 UC Comprehensive Cancer Centers: UC Davis Comprehensive Cancer Center, UC Los Angeles Jonsson Comprehensive Cancer Center, UC Irvine Chao Family Comprehensive Cancer Center, UC San Diego Moores Cancer Center, and the UC San Francisco Helen Diller Family Comprehensive Cancer Center. The interventions implemented in each of these cancer centers are highlighted, with a focus on opportunities for a redesign in care delivery models. The authors propose that their experiences gained during this pandemic will enhance pre-pandemic cancer care delivery.


Assuntos
COVID-19 , Institutos de Câncer/organização & administração , Atenção à Saúde/organização & administração , Neoplasias/terapia , COVID-19/complicações , COVID-19/diagnóstico , COVID-19/epidemiologia , COVID-19/prevenção & controle , Teste para COVID-19 , California/epidemiologia , Saúde Global , Humanos , Controle de Infecções/métodos , Controle de Infecções/organização & administração , Neoplasias/complicações , Neoplasias/diagnóstico , Pandemias , Telemedicina/métodos , Telemedicina/organização & administração
2.
J Natl Compr Canc Netw ; 22(1): 43-69, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38394770

RESUMO

Chronic myeloid leukemia (CML) is defined by the presence of Philadelphia chromosome resulting from a reciprocal translocation between chromosomes 9 and 22 [t9;22] that gives rise to a BCR::ABL1 fusion gene. CML occurs in 3 different phases (chronic, accelerated, and blast phase) and is usually diagnosed in the chronic phase in developed countries. Tyrosine kinase inhibitor (TKI) therapy is a highly effective treatment option for patients with chronic phase-CML. The primary goal of TKI therapy in patients with chronic phase-CML is to prevent disease progression to accelerated phase-CML or blast phase-CML. Discontinuation of TKI therapy with careful monitoring is feasible in selected patients. This manuscript discusses the recommendations outlined in the NCCN Guidelines for the diagnosis and management of patients with chronic phase-CML.


Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva , Leucemia Mieloide de Fase Crônica , Humanos , Crise Blástica/induzido quimicamente , Crise Blástica/tratamento farmacológico , Crise Blástica/genética , Inibidores de Proteínas Quinases/efeitos adversos , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Cromossomo Filadélfia , Leucemia Mieloide de Fase Crônica/tratamento farmacológico , Proteínas de Fusão bcr-abl/genética
3.
J Natl Compr Canc Netw ; 21(10): 1000-1010, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37856201

RESUMO

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Masculino , Feminino , Humanos , Mutação em Linhagem Germinativa , Testes Genéticos , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Predisposição Genética para Doença , Fatores de Risco , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética
4.
J Cutan Pathol ; 47(7): 606-616, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32249949

RESUMO

Nearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1, MITF, MC1R, and BAP1. Additionally, melanoma risk is increased in mixed cancer syndromes caused by mutations in PTEN, BRCA2, BRCA1, RB1, and TP53. While early onset, multiple tumors, and family cancer history remain the most valuable clinical clues for hereditary melanoma, characteristic epithelioid cytology of melanocytic tumors may suggest an underlying BAP1 mutation. Herein, we review the clinical and histopathologic characteristics of melanocytic tumors associated with these germline mutations and discuss the role of genetic counseling.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/genética , Mutação em Linhagem Germinativa/genética , Melanoma/genética , Nevo Pigmentado/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Quinase 4 Dependente de Ciclina/metabolismo , Genes p16 , Predisposição Genética para Doença , Humanos , Melanoma/patologia , Fator de Transcrição Associado à Microftalmia/metabolismo , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Fenótipo , Receptor Tipo 1 de Melanocortina/metabolismo , Complexo Shelterina , Telomerase/metabolismo , Proteínas de Ligação a Telômeros/metabolismo , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Adulto Jovem
5.
Br J Haematol ; 165(3): 375-81, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24606326

RESUMO

This phase II study evaluated the safety and efficacy of lenalidomide in combination with rituximab in patients with relapsed/refractory, indolent non-Hodgkin lymphoma (NHL). Patients were treated with daily lenalidomide in 28-d cycles and weekly rituximab for 4 weeks. Lenalidomide was continued until progression or unacceptable toxicity. Twenty-two patients were assessed for FCGR3A polymorphisms. Thirty patients were enrolled; 27 were evaluable for response. The overall response rate (ORR) was 74% including 44% complete responses (CR); median progression-free survival (PFS) was 12·4 months. The 13 rituximab refractory patients had an ORR of 61·5% (four CR/unconfirmed CR). The ORR was 77% in the 22 follicular lymphoma patients (nine CR/unconfirmed CR). At a median follow-up time of 43 months, the median duration of response and time to next therapy were 15·4 and 37·4 months, respectively. Most common grade 3/4 adverse events were lymphopenia (45%), neutropenia (55%), fatigue (23%) and hyponatraemia (9%). The ORR and PFS in patients with low-affinity FCGR3A polymorphisms (F/F and F/V) suggest that lenalidomide may improve the activity of rituximab in these patients. These data suggest that combining lenalidomide with rituximab can produce durable responses with acceptable toxicity in patients with indolent NHL.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma não Hodgkin/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Anticorpos Monoclonais Murinos/administração & dosagem , Anticorpos Monoclonais Murinos/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Intervalo Livre de Doença , Feminino , Humanos , Lenalidomida , Linfoma não Hodgkin/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Receptores de IgG/genética , Rituximab , Talidomida/administração & dosagem , Talidomida/efeitos adversos , Talidomida/análogos & derivados , Resultado do Tratamento
7.
Leuk Res ; 119: 106885, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35738024

RESUMO

BACKGROUND: Hyper-CVAD is an established regimen for adult ALL that was developed at the MD Anderson Cancer Center (MDACC). However, results can vary across different institutions given the heterogeneity of patient populations and institutional practices. Moreover, while a MDACC study demonstrated that the combination of ponatinib plus hyper-CVAD produced remarkable activity in untreated Ph+ ALL, it remains to be externally validated. We sought to validate those findings in previously untreated adult patients with Ph+ ALL. METHODS: This was a retrospective study analyzing the outcomes of previously untreated adult ALL patients treated with hyper-CVAD, with a focus on Ph+ ALL patients treated with ponatinib plus hyper-CVAD. RESULTS: 82 patients were included. The median age was 51 years. The median follow-up was 2.62 years. The 5-year overall survival (OS) and event-free survival (EFS) were 39.5 % and 28.2 %, respectively. For Ph+ ALL patients (n = 13) receiving ponatinib plus hyper-CVAD, 3-year OS and EFS were both 92.3 %. Univariate analysis showed a high WBC and poor-risk cytogenetics to be associated with inferior outcomes, while CD20 + predicted favorable outcomes in B-ALL patients. On multivariate analysis, CD20 + retained significance for Philadelphia-negative (Ph-) ALL. For Ph+ ALL, ponatinib was associated with better OS and EFS on univariate and multivariate analysis. CONCLUSION: Our data supports the use of ponatinib plus hyper-CVAD as a standard of care regimen for Ph+ ALL. Our outcomes for Ph-ALL and T-cell ALL (T-ALL) show that advances are still needed in the frontline setting, and clinical trial enrollment is recommended.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ciclofosfamida/uso terapêutico , Dexametasona/uso terapêutico , Doxorrubicina/uso terapêutico , Humanos , Imidazóis , Pessoa de Meia-Idade , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Piridazinas , Estudos Retrospectivos , Vincristina/uso terapêutico
9.
Hum Pathol (N Y) ; 5: 6-9, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27458550

RESUMO

The 2008 World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues introduced a category for myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Many of these patients are responsive to tyrosine kinase inhibitor (TKI) therapy. In this case report , we report a unique case of chronic eosinophlic leukemia with novel t(5;12) (q23-31;p13)/ETV6-ACSL6 gene fusion, in which patient was resistant to TKI therapy. This important finding is a novel addition to the above entity in WHO 2008 classification. The ACSL6 gene encodes a long-chain acyl-CoA synthetase, an enzyme that plays an essential role in lipid metabolism and ATP generation pathways in cells. The EBV6-ACSL6 rearrangement is present in diverse types of hematopoietic malignancies. As yet, it is not clear how ACSL6, a gene involved in fatty acid synthesis, contributes to clonal expansion of myeloid progenitor cells. Therefore, elucidating the contribution of ACSL6 to leukemogenesis may allow the development of novel treatment for those resistant to TKI therapy.

10.
Cancer Genet Cytogenet ; 151(1): 14-35, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15120908

RESUMO

Robertsonian translocations are the most common constitutional structural abnormalities but are rarely reported as acquired aberrations in hematologic malignancies. The nonhomologous acrocentric rearrangements are designated as Robertsonian translocations, whereas the homologous acrocentric rearrangements are referred to as isochromosomes. Robertsonian rearrangements have the highest mutation rates of structural chromosome rearrangements based on surveys of newborns and spontaneous abortions. It would be expected that Robertsonian recombinations would be more common than suggested by the literature. A survey of the cytogenetics database from a single institution found 17 patients with acquired Robertsonian rearrangement and hematologic malignancies. This is combined with data from the literature for a total of 237 patients. All of the possible types of Robertsonian rearrangements have been reported in hematologic malignancies, with the i(13q), i(14q), and i(21q) accounting for nearly 60%. Complex karyotypic changes are seen in the majority of cases, corresponding with disease evolution. These karyotypes consistently show loss of chromosomes 5 and/or 7 in the myelocytic disorders, nonacrocentric isochromosomes, and centromeric breakage and reunion. However, nearly 25% of the acquired rearrangements were found as the sole abnormality or in addition to an established cytogenetic aberration. Most of these were the i(14q) with the myelodysplasia subtypes refractory anemia and chronic myelomonocytic leukemia.


Assuntos
Leucemia/genética , Linfoma/genética , Translocação Genética , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Cariotipagem , Leucemia/classificação , Linfoma/classificação , Masculino , Pessoa de Meia-Idade
11.
Cancer Genet Cytogenet ; 149(2): 137-53, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15036890

RESUMO

A predisposition to tumor development is associated with some constitutional chromosomal abnormalities. Investigations of families with an apparent hereditary cancer and constitutional chromosome rearrangements have led to the molecular identification of tumor suppressor genes. Under the somatic mutation theory for the development of cancer, two mutational events are required. The first step may be a constitutional event and the second an acquired genetic mutation. Cytogenetic studies were performed on 5633 bone marrow specimens from patients with hematologic malignancies from a single institution. Fifty cases of constitutional chromosome aberrations were detected. Data collected from the literature and from our series are reviewed and compared with the incidence of specific constitutional chromosome aberrations in the newborn population. Possible mechanisms that may predispose individuals with constitutional chromosome aberrations to the development of a hematologic malignancy are reviewed.


Assuntos
Aberrações Cromossômicas , Predisposição Genética para Doença , Neoplasias Hematológicas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade
12.
Cancer Genet Cytogenet ; 155(1): 33-41, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15527900

RESUMO

Neuroendocrine tumors represent a spectrum of tumor types with different biologic and clinical features. The morphologic types include the low-grade typical and atypical carcinoids and the high-grade small cell and large cell neuroendocrine carcinomas (NECs). Cytogenetic descriptions of high-grade NECs are rare. Complete karyotypic descriptions of 34 high-grade NECs are reviewed: 7 extrapulmonary small cell NECs, 3 metastatic NECs of unknown primary, and 24 small cell lung carcinomas (SCLCs). Chromosomal deletions are more frequent than gains and often involve the entire chromosome arm. Typical aberrations are deletions of chromosome 3p, 5q, 10q, and 17p and gains of 1q, 3q, and 5p occurring as isochromosomes. Non-small cell lung cancers (NSCLCs) have different cytogenetic aberrations, but those with a metastatic phenotype display the identical aberrations as SCLC, a tumor known for its metastatic phenotype at onset. A genetic classification of lung cancer that incorporates the pattern of recurrent chromosome aberrations may be a better predictor of clinical outcome than a morphologic classification.


Assuntos
Carcinoma/genética , Aberrações Cromossômicas , Tumores Neuroendócrinos/genética , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Pequenas/genética , Bandeamento Cromossômico , Citogenética/métodos , Feminino , Humanos , Cariotipagem , Neoplasias Pulmonares/genética , Masculino , Pessoa de Meia-Idade , Ploidias , Resultado do Tratamento
13.
Cancer Genet Cytogenet ; 148(2): 91-103, 2004 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-14734219

RESUMO

Rearrangements of the short arm of chromosome 12 are among the most common aberrations found in hematologic malignancies, including myelodysplastic syndromes, acute myelocytic leukemias, acute lymphoblastic leukemias, and non-Hodgkin lymphomas. We report on a group of 46 patients with a variety of myelocytic and lymphoid malignancies, all with an inversion of chromosome 12. Both pericentric and paracentric inversions occurred. The identified hotspots for breakage were p13 and q24. These correspond to gene-rich areas of known chromosome instability. The inv(12) is difficult to detect and may be misinterpreted as a partial deletion by routine cytogenetics. Fluorescence in situ hybridization studies revised the G-banding interpretations of a deleted 12p in some cases to an inversion. The inv(12) may occur as the sole abnormality in both myelocytic and lymphoid malignancies, suggesting lineage promiscuity as seen with MLL and ETV6 gene disruptions. The majority of patients with the inv(12) had complex karyotypic changes that predicted a poor prognosis. Of the 24 patients with known clinical follow-up, many were refractory to chemotherapy and overall survival was short.


Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 12 , Neoplasias Hematológicas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade
14.
Cancer Genet Cytogenet ; 199(1): 53-5, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20417870

RESUMO

The 8p12 myeloproliferative syndrome is a distinct myeloid disorder associated with a translocation involving chromosome region 8p12 (HUGO nomenclature). It is characterized by leukocytosis, eosinophilia, and a concurrent or rapid transformation to a T-cell lymphoblastic lymphoma. We report a case of polycythemia vera as a clinical presentation of the 8p12 myeloproliferative syndrome and review the literature. Atypical features in patients with polycythemia vera should be investigated with cytogenetic evaluation.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 8/genética , Policitemia Vera/genética , Adolescente , Adulto , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Síndrome , Adulto Jovem
15.
Arch Pathol Lab Med ; 129(4): 520-2, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15794678

RESUMO

A 2-month-old male infant presented with a subcutaneous mass on the left middle finger; the mass had been present since birth. This was treated with local excision, and there has been no recurrence. Histology revealed the typical features of a fibrous hamartoma. Cytogenetic studies revealed a reciprocal translocation, t(2;3)(q31;q21), as the sole abnormality. To our knowledge, this is the first report of the cytogenetic findings in fibrous hamartoma, and it suggests that this lesion represents a benign neoplasm.


Assuntos
Hamartoma/congênito , Hamartoma/genética , Neoplasias de Tecidos Moles/congênito , Neoplasias de Tecidos Moles/genética , Cromossomos Humanos Par 2 , Dedos , Hamartoma/patologia , Humanos , Lactente , Masculino , Neoplasias de Tecidos Moles/patologia , Translocação Genética
17.
Am J Hematol ; 75(4): 231-8, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15054816

RESUMO

Non-Hodgkin's lymphoma (NHL) occurring as a synchronous malignancy with chronic myelogenous leukemia (CML) is rare. To our knowledge, this is the first case reported of a patient who developed mantle cell lymphoma (MCL) after therapy with imatinib mesylate for CML. After a 3-year history of CML, the patient developed a lymphocytosis associated with diarrhea, anorexia, and weight loss. Imaging studies revealed abdominal adenopathy and extensive lymphomatous infiltration of the liver, stomach, pancreas, and kidneys. Flow cytometric and cytogenetic studies were consistent with MCL. Fluorescence in situ hybridization (FISH) of the bone marrow revealed a genetically distinct lymphoid neoplasm rather than an extramedullary blast crisis of CML. The development of lung cancer, prostate cancer, CML and MCL in this patient suggests a genetic predisposition, although other factors, including environmental exposures and therapy with imatinib mesylate could have had a contributory or synergistic role in the development of MCL.


Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações , Linfoma de Célula do Manto/complicações , Idoso , Antineoplásicos/uso terapêutico , Benzamidas , Humanos , Mesilato de Imatinib , Hibridização in Situ Fluorescente , Cariotipagem , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Linfoma de Célula do Manto/tratamento farmacológico , Linfoma de Célula do Manto/genética , Linfoma de Célula do Manto/patologia , Masculino , Cromossomo Filadélfia , Piperazinas/uso terapêutico , Pirimidinas/uso terapêutico
18.
Cancer J ; 10(5): 294-300, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15530258

RESUMO

PURPOSE: Clinical trials are essential to improve cancer therapy, but only 3% of newly diagnosed adult cancer patients enroll annually. We previously conducted a prospective analysis of factors affecting trial accrual at the UC Davis Cancer Center between 1997 and 2000. It was found that the accrual rate was 14% and that patients with private insurance were significantly less likely than patients with government insurance to enroll, suggesting that fear of insurance denial was a barrier. In 2002, a new California law (SB37) required insurers to reimburse routine costs of care for cancer trials. METHODS: To assess the impact of SB37 on accrual, we repeated our study using the same sur vey instrument. Oncologists seeing new patients at the UC Davis Cancer Center from August to November 2002 completed questionnaires that inquired about patient characteristics and eligibility, protocol availability, and patient willingness to participate. RESULTS: Physicians considered clinical trials for 55% (118/216) of patients, but trials were available for only 53% (62/118). Eligibility criteria were met by 82% (51/62). Of these, 69% (35/51) agreed to participate (vs 51% previously). No patient declined to participate because of insurance limitations (vs 8% previously). Furthermore, insurance type was no longer a significant factor in determining whether patients would enroll. This suggests that although the overall rate of accrual is only slightly increased after passage of SB37, patients may be more willing to enroll. Efforts to increase participation must include enhancing physician and patient awareness of SB37.


Assuntos
Ensaios Clínicos como Assunto/legislação & jurisprudência , Cobertura do Seguro , Seguro Saúde , Neoplasias/terapia , Seleção de Pacientes , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , California , Protocolos Clínicos , Definição da Elegibilidade , Feminino , Humanos , Reembolso de Seguro de Saúde , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Encaminhamento e Consulta , Recusa de Participação/psicologia , Recusa de Participação/estatística & dados numéricos , Sujeitos da Pesquisa/psicologia , Inquéritos e Questionários
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