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1.
Pediatr Dev Pathol ; 27(2): 193-197, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38032739

RESUMO

B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a precursor B-cell neoplasm that often harbors specific cytogenetic/molecular abnormalities with distinctive clinical, phenotypic, and prognostic characteristics. Subcategorization of B-ALL/LBL therefore requires extensive cytogenetic and/or molecular testing to determine the appropriate classification and therapeutic interventions for these patients. Herein, we present a case of a 17-year-old young woman diagnosed with B-LBL harboring not only an IGH::MYC rearrangement but also BCL2 and BCL6 rearrangements (so-called "triple-hit") and somatic biallelic TP53 inactivation. MYC rearrangements are relatively rare in B-ALL/LBL, and the identification of a "triple-hit" elicited an initial diagnostic dilemma. However, a multimodal approach allowed for the classification of this complex case and helped guide selection of an appropriate therapeutic regimen.


Assuntos
Linfoma de Células B , Leucemia-Linfoma Linfoblástico de Células Precursoras , Feminino , Humanos , Adolescente , Proteínas Proto-Oncogênicas c-myc/genética , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Proto-Oncogênicas c-bcl-2/uso terapêutico , Linfoma de Células B/diagnóstico , Linfoma de Células B/genética , Linfoma de Células B/tratamento farmacológico , Prognóstico , Rearranjo Gênico
2.
J Acquir Immune Defic Syndr ; 86(2): 191-199, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33109935

RESUMO

BACKGROUND: Increased preexposure prophylaxis (PrEP) uptake among black men who have sex with men and black transgender women (BMSM/TW) is needed to end the HIV epidemic. Embedding a brief intervention in network services that engage individuals in HIV transmission networks for HIV/ sexually transmitted infections testing may be an important strategy to accelerate PrEP uptake. SETTING: Partner Services PrEP study is a pilot, randomized, control trial to improve linkage to PrEP care among BMSM/TW presenting for network services in Chicago, IL, from 2015 to 2017. METHODS: BMSM/TW (N = 146) aged 18-40 years were recruited from network services (partners services and social network strategy services). Intervention participants developed an individualized linkage plan based on the information-motivation-behavioral skills model and received minibooster sessions. Control participants received treatment as usual. Sociodemographic, behavioral, and clinical factors were examined at baseline and 3- and 12-month postintervention. Intent-to-treat analyses examined linkage to PrEP care within 3-month postintervention (primary outcome). Secondary outcomes were PrEP initiation, time to linkage to PrEP care, and time to PrEP initiation. RESULTS: Compared with control participants, a significantly greater proportion of the intervention participants were linked to PrEP care within 3 months (24% vs. 11%; P = 0.04) and initiated PrEP (24% vs. 11%; P = 0.05). Among those linked to PrEP care within the study period, intervention participants were linked significantly sooner than control participants [median (interquartile range) days, 26.5 (6.0-141.8) vs. 191.5 (21.5-297.0); P = 0.05]. CONCLUSION: Study results support the preliminary efficacy of Partner Services PrEP to improve linkage to PrEP care and PrEP initiation among BMSM/TW.


Assuntos
Busca de Comunicante , Infecções por HIV/tratamento farmacológico , Profilaxia Pré-Exposição/métodos , Rede Social , Adolescente , Adulto , Negro ou Afro-Americano , Fármacos Anti-HIV/uso terapêutico , Chicago , Feminino , Infecções por HIV/transmissão , Homossexualidade Masculina , Humanos , Masculino , Projetos Piloto , Profissionais do Sexo , Minorias Sexuais e de Gênero , Infecções Sexualmente Transmissíveis , Pessoas Transgênero , Adulto Jovem
4.
Am J Clin Pathol ; 149(6): 499-513, 2018 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-29659673

RESUMO

OBJECTIVES: To evaluate the utility of flow cytometry, karyotype, and a fluorescence in situ hybridization (FISH) panel in screening children for myelodysplastic syndrome (MDS). METHODS: Bone marrow morphology, flow cytometry, karyotype, and FISH reports from 595 bone marrow specimens (246 patients) were analyzed. RESULTS: By morphology, 8.7% of cases demonstrated at least unilineage dysplasia and/or increased blasts. Flow cytometry identified definitive abnormalities in 2.8% of cases, all of which had abnormal morphology. Of the 42 cases (7.2%) with acquired karyotypic abnormalities, 26 had no morphologic dysplasia. With a 98.2% concordance between karyotype and MDS FISH, FISH only identified two additional cases, both with low-level (<4%) abnormalities. Peripheral blood count evaluation only identified the absence of thrombocytopenia to correlate with an absence of abnormal ancillary tests. CONCLUSIONS: The combination of morphologic evaluation and karyotype with judicious use of flow cytometry and MDS FISH is sufficient to detect abnormalities for these indications.


Assuntos
Contagem de Células Sanguíneas/métodos , Aberrações Cromossômicas , Citometria de Fluxo/métodos , Hibridização in Situ Fluorescente/métodos , Cariotipagem/métodos , Síndromes Mielodisplásicas/diagnóstico , Serviços Técnicos Hospitalares , Medula Óssea/patologia , Criança , Feminino , Humanos , Masculino , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/patologia , Estudos Retrospectivos
5.
Open Forum Infect Dis ; 5(suppl_1): S671-S672, 2018 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-31421051

RESUMO

BACKGROUND: The prevalence of STIs among people living with HIV (PLWH) has implications for HIV treatment as prevention and community efforts to stop the spread of HIV. We explored the factors associated with HIV/STI co-infection in HIV-positive individuals. METHODS: We analyzed data from our "Network Testing" service program, which was designed to expand HIV/STI testing services to high-risk individuals including gay, bisexual, and other men who have sex with men (MSM) in Chicago's South side, a high HIV prevalent area. This program provides incentivized testing to participants and up to six referred individuals within their social network. The prevalence of selected STIs, including syphilis, gonorrhea, or chlamydia infection, among HIV-positive individuals was evaluated. Bivariate and multivariable logistic regression analyses were used to assess sociodemographic, testing history, and risk factors significantly associated with HIV/STI co-infection. RESULTS: Of the 295 HIV-positive individuals, 110 (37%) tested positive for at least one STI, with 90 (32%) testing positive for syphilis, 23 (16%) for gonorrhea, and 12 (8%) for chlamydia. The median age was 27 years old and 91% of clients were MSM. In multivariable analyses, individuals who reported being in care were less likely to be co-infected (adjusted odds ratio [aOR] 0.45, 95% confidence interval 0.23-0.90). Additionally, participants who reported having a previous STI test were more likely to be co-infected (aOR=6.10, 95% CI: 1.87-19.90). We found no association with co-infection and other risk factors including multiple partners and condomless sex. CONCLUSION: The high STI prevalence among HIV-positive individuals suggests: 1) a continued need for regular STI testing and treatment among PLWH to reduce the likelihood of HIV transmission to others; and 2) the receipt of HIV care serves as an important opportunity to provide comprehensive services including STI testing/treatment. DISCLOSURES: R. Issema, CDC FOA PS15-1502: Employee of Grant Recipient and Employee, Grant recipient. CDC FOA PS17-1704: Employee of Grant Recipient, Grant recipient. T. Songster, CDC FOA 15-1502: Employee of the grant recipient, Grant recipient. CDC FOA 17-1704: Employee of grant recipient, Grant recipient. M. Edgar, CDC FOA PS15-1502: Employee of Grant Recipient, Grant recipient. B. Davis, CDC FOA PS15-1502: Employee of Grant Recipient, Grant recipient. T. Lee, CDC FOA PS15-1502: Employee of Grant Recipient, Grant recipient. J. Harris, CDC FOA PS15-1502: Employee of Grant Recipient, Grant recipient. T. Cleveland, CDC FOA PS15-1502: Employee of Grant Recipient, Grant recipient. H. Chancler, CDC FOA PS15-1502: Employee of Grant Recipient, Grant recipient. J. Schneider, CDC FOA PS15-1502: Grant Investigator, Grant recipient. CDC FOA PS17-1704: Grant Investigator, Grant recipient. Chicago Department of Public Health A2 HIV Prevention and Testing Grant: Grant Investigator, Grant recipient.

6.
Cancer Genet ; 218-219: 10-14, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29153092

RESUMO

Recurrent chromosomal abnormalities in childhood B-cell acute lymphoblastic leukemia (B-ALL) provide prognostic information that is useful in determining treatment stratification. iAMP21 is a more recently recognized cytogenetic entity of B-ALL that was originally described as multiple copies of the RUNX1 gene on a structurally abnormal chromosome 21. Subsequent studies elucidated a common region of highest-level amplification that includes RUNX1. Fluorescence in situ hybridization (FISH) is the most common method used to identify iAMP21, which is defined as the presence of five or more total copies of RUNX1, with three or more extra RUNX1 signals on a single abnormal chromosome 21. More recently, chromosomal microarray (CMA) and next generation sequencing have uncovered a characteristic chromosome 21 copy number profile in cases of iAMP21. We present a case of iAMP21 that does not fit the formal FISH definition. However, CMA uncovered the characteristic chromosome 21 copy number profile that is seen in iAMP21, demonstrating that CMA is helpful for the detection of this entity when FISH results are ambiguous. Furthermore, CMA showed that the highest level of amplification in this case did not include the RUNX1 gene, consistent with current evidence that RUNX1 is not the primary target of amplification.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 21/genética , Amplificação de Genes , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Criança , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Prognóstico , Translocação Genética
7.
AIDS Behav ; 20(3): 600-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26400079

RESUMO

Black men who have sex with men (BMSM) are highest risk for HIV seroconversion in the United States. Little attention has been paid to marijuana use among BMSM and potential for HIV risk. A sample of 202 BMSM was generated through respondent driven sampling. The relationship between differential marijuana use and both HIV risk behavior and social network factors were examined using weighted logistic regression. Of the BMSM in this sample 60.4 % use marijuana in general and 20.8 % use marijuana as sex-drug. General marijuana use was significantly associated with participation in group sex (AOR 3.50; 95 % CI 1.10-11.10) while marijuana use as a sex drug was significantly associated with both participation in condomless sex (AOR 2.86; 95% CI 1.07-7.67) and group sex (AOR 3.39; 95% CI 1.03-11.22). Respondents with a moderate or high perception of network members who use marijuana were more likely to use marijuana both in general and as a sex-drug. Network member marijuana use, while not associated with risk behaviors, is associated with individual marijuana use and individual marijuana use in the context of sex is associated with risk practices. Targeting interventions towards individuals and their respective networks that use marijuana as a sex drug may reduce HIV risk.


Assuntos
Negro ou Afro-Americano/estatística & dados numéricos , Infecções por HIV/etnologia , Homossexualidade Masculina/etnologia , Fumar Maconha/etnologia , Rede Social , Adolescente , Adulto , População Negra , Chicago/epidemiologia , Estudos Transversais , Infecções por HIV/prevenção & controle , Homossexualidade Masculina/estatística & dados numéricos , Humanos , Modelos Logísticos , Masculino , Prevalência , Assunção de Riscos , Fatores Socioeconômicos , Sexo sem Proteção/estatística & dados numéricos , Adulto Jovem
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