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The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized infantile myofibromatosis which presented with diffuse hypopigmented macules, some with subtle atrophy and telangiectasia. Further workup revealed visceral involvement which led to treatment with systemic chemotherapy. Awareness of this rare clinical presentation is crucial to expedite workup and treatment given the poor prognosis in infants with visceral involvement.
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Miofibromatose , Humanos , Lactente , Recém-Nascido , Miofibromatose/diagnósticoAssuntos
Mioepitelioma , Fator 3 de Transcrição de Octâmero , Proteínas Proto-Oncogênicas , Proteínas Repressoras , Sarcoma Sinovial , Neoplasias de Tecidos Moles/classificação , Dorso/patologia , Biomarcadores Tumorais/metabolismo , Criança , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Linfonodos/patologia , Mioepitelioma/diagnóstico , Mioepitelioma/patologia , Estadiamento de Neoplasias , Fator 3 de Transcrição de Octâmero/metabolismo , Proteínas de Fusão Oncogênica/metabolismo , Patologia Molecular/métodos , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Repressoras/metabolismo , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologiaRESUMO
PURPOSE: In this study, we used a series of immunohistochemical measurements of 2 cell cycle regulators, p16 and p21, to evaluate their prognostic value, separately and in combination, for the disease outcomes. METHOD: A total of 101 patients with high-grade osteosarcoma were included in this study. Clinicopathologic data were collected, and immunohistochemistry for p16 and p21 was performed and interpreted by 3 independent pathologists. Statistical analysis was performed to assess the strength of each of these markers relative to disease outcome. RESULTS: Our results indicate that more than 90% expression (high) of p16 by immunohistochemistry on the initial biopsy has a strong predictive value for good histologic response to chemotherapy. The patients are also more likely to survive the past 5 years and less likely to develop metastasis than patients with less than 90% p16 (low) expression. The results for p21, on the other hand, show a unique pattern of relationship to the clinicopathologic outcomes of the disease. Patients with less than 1% (low) or more than 50% (high) expression of p21 by immunohistochemistry show a higher chance of metastasis, poor necrotic response to chemotherapy, and an overall decreased survival rate when compared with p21 expression between 1% and 50% (moderate). Our results also showed that the expression of p16 and combined p16 and p21 demonstrates a stronger predictive relationship to 5-year survival than tumor histologic necrosis and p21 alone. DISCUSSION: The results of this study, once proven to be reproducible by a larger number of patients, will be valuable in the initial assessment and risk stratification of the patients for treatment and possibly the clinical trials.
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Biomarcadores Tumorais , Neoplasias Ósseas , Inibidor p16 de Quinase Dependente de Ciclina , Inibidor de Quinase Dependente de Ciclina p21 , Osteossarcoma , Humanos , Osteossarcoma/mortalidade , Osteossarcoma/patologia , Osteossarcoma/metabolismo , Osteossarcoma/tratamento farmacológico , Osteossarcoma/diagnóstico , Osteossarcoma/terapia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Masculino , Inibidor de Quinase Dependente de Ciclina p21/metabolismo , Feminino , Adulto , Prognóstico , Adolescente , Neoplasias Ósseas/patologia , Neoplasias Ósseas/mortalidade , Neoplasias Ósseas/metabolismo , Criança , Biomarcadores Tumorais/metabolismo , Adulto Jovem , Pessoa de Meia-Idade , Imuno-Histoquímica , Gradação de Tumores , Pontos de Checagem do Ciclo Celular , IdosoRESUMO
OBJECTIVE: We describe a woman with a long-standing history of Paget disease involving the vulva and vagina, who was previously diagnosed with a high-grade squamous lesion, atypical glandular cells, and adenocarcinoma on various different yearly Pap tests. MATERIALS AND METHODS: This article is a case report of this patient and a review of the literature concerning the cytology of Paget disease. RESULTS: By reviewing Pap test cytology findings, Paget cells were identified as atypical cell groups with enlarged nuclei and occasional prominent nucleoli and further characterized by immunoreactivity to carcinoembryonic antigen and gross cystic disease fluid protein that distinguished them from high-grade squamous lesion. CONCLUSIONS: By enabling early diagnosis, regular surveillance, and identification of Paget cells by cytopathology, the Pap test becomes a valuable tool in identifying initial and recurrent Paget disease when it involves the vagina.
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Doença de Paget Extramamária/patologia , Teste de Papanicolaou , Doenças Vaginais/patologia , Doenças da Vulva/patologia , Idoso , Feminino , Humanos , Doença de Paget Extramamária/diagnóstico , Doenças Vaginais/diagnóstico , Doenças da Vulva/diagnósticoRESUMO
BACKGROUND: Marginal excision of soft tissue sarcoma (STS), defined as resection through the tumor pseudocapsule or surrounding reactive tissue, increases the likelihood of local recurrence and necessitates re-excision or postoperative radiation. However, its impact after preoperative radiation therapy (RT) remains unclear. This study therefore investigated the significance of marginal margins in patients treated with preoperative RT for extremity STS, reporting long-term local control and limb preservation endpoints. METHODS: The records of 317 adults at the University of Florida with nonmetastatic extremity STS treated from 1980 to 2008 with preoperative RT as part of a limb conservation strategy were reviewed. The median follow-up was 4.7 years (8.3 years for living patients). The median tumor size was 10 cm (range, 2-36 cm), and 86% were high grade. The median RT dose was 50.4 Gy (range, 12.5-57.6 Gy). Margins were classified as wide/radical (n = 105), marginal (n = 179), contaminated (n = 15), positive (n = 17), or unknown (n = 1). Endpoints were local control (LC), amputation-free survival (AFS), cause-specific survival (CSS), and overall survival (OS). RESULTS: Five-year CSS and OS rates were 62% and 59%, respectively. Five-year LC and AFS was 93% and 89%, respectively. AFS by margin status was 64%, 83%, 97%, and 92% for positive, contaminated, marginal, and wide/radical margins, respectively (P<.005). Marginal excision following preoperative RT resulted in equivalent LC and AFS compared with wide/radical margins. CONCLUSIONS: Marginal resection after preoperative RT does not compromise LC or AFS in extremity STS. This finding may be related to radiosterilization of tumor cells within the reactive zone following preoperative RT.
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Sarcoma/radioterapia , Sarcoma/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Quimioterapia Adjuvante , Terapia Combinada , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Radioterapia Adjuvante , Adulto JovemRESUMO
CASE: A 64-year-old man presented with unrelenting left knee pain and an unremarkable radiograph 4 months after revision total knee arthroplasty (TKA). Pain persisted, despite conservative management, and repeat imaging demonstrated significant lysis of the left medial tibial condyle. A biopsy demonstrated metastatic squamous cell carcinoma of the lung. Management with excision and curettage of the tibial lesion was followed by palliative radiotherapy and chemotherapy until the patient died 7 months later. CONCLUSION: This case highlights metastasis as an etiology for persistent TKA pain in a patient with significant risk factors.
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Artroplastia do Joelho , Carcinoma de Células Escamosas , Masculino , Humanos , Pessoa de Meia-Idade , Artroplastia do Joelho/efeitos adversos , Articulação do Joelho/cirurgia , Carcinoma de Células Escamosas/etiologia , Dor/etiologia , Pulmão/cirurgiaRESUMO
BACKGROUND: To report long-term outcomes following radiotherapy for desmoid tumors in children and young adults and identify variables impacting local-regional control and treatment complications. PROCEDURE: From 1978 to 2008, 30 patients <30 years old were treated with radiotherapy for a pathologically confirmed desmoid tumor. The median age at radiotherapy was 23.7 years old (range, 10.3-29.9). Fifteen patients underwent definitive radiotherapy, 14 received radiotherapy after gross total resection, and 1 received preoperative radiotherapy. Sixteen patients received 1.8 Gy once daily and 14 received 1.2 Gy twice daily. Variables analyzed for prognostic value included gender, age at diagnosis, primary or recurrent presentation, age at radiotherapy, tumor site, tumor size, extent of resection, fractionation schedule, and radiotherapy dose. RESULTS: The actuarial 15-year overall survival and local-regional control rates were 96% and 55%, respectively. Local-regional control in patients <18 years old at the time of radiotherapy was 20% versus 63% in those 18-30 years old (P = 0.08). Local-regional control rates for tumors receiving ≥ 55 Gy and < 55 Gy were 79% and 30%, respectively (P = 0.02). No other factors had a statistically significant association with local-regional control by univariate analysis. Twelve of 30 patients experienced grade 3-4 complications, including pathologic fractures, impaired range of motion, pain, and in-field skin cancers. CONCLUSIONS: The role of radiotherapy in managing young patients with desmoid tumors remains unclear. Younger patient age is associated with inferior local-regional control following RT. In children and young adults, doses ≥55 Gy were associated with improved tumor control, but also lead to increased risk of complications.
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Fibromatose Agressiva/radioterapia , Adolescente , Adulto , Fatores Etários , Criança , Fibromatose Agressiva/complicações , Fibromatose Agressiva/mortalidade , Humanos , Radioterapia/efeitos adversos , Radioterapia/métodos , Dosagem Radioterapêutica , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Few published articles describe outcomes following definitive radiation for unresectable pediatric and young adult nonrhabdomyosarcoma soft tissue sarcoma (NRSTS). The purpose of this study is to evaluate the prognostic factors, outcomes, and complications in patients age 30 years or younger with NRSTS treated at the University of Florida from 1973 to 2002. PROCEDURE: Nineteen pediatric and young adult patients with NRSTS were treated with radiotherapy after biopsy. Thirteen patients had high-grade tumors. The median age at radiotherapy was 19.6 years; the median dose was 55.2 Gy. Twelve patients received chemotherapy. Prognostic factors for local recurrence, distant metastases, and survival were analyzed. RESULTS: Median follow-up was 2.6 years. The 5-year local-control rate was 40%. Nine out of 13 local failures occurred in the absence of metastatic disease. All patients with local failures died of their cancer, and 8 patients died without evidence of distant metastases. There was a trend toward improved local control with low/intermediate-grade tumors. Freedom from distant metastases at 5 years was 68%. Fourteen patients died of their disease. The 5-year overall survival was 37%. There was one grade 4 complication based on NCI Common Terminology Criteria for Adverse Events version 3. CONCLUSION: Young patients with unresectable NRSTS have a poor outcome thereby justifying current study efforts focused on treatment intensification. By demonstrating that all patients with local recurrence died of disease and more than half of these deaths occurred in the absence of distant spread, these results suggests that improved means of local control may translate into improvement in survival.
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Sarcoma/radioterapia , Neoplasias de Tecidos Moles/radioterapia , Adolescente , Adulto , Criança , Pré-Escolar , Seguimentos , Humanos , Metástase Neoplásica , Recidiva Local de Neoplasia , Dosagem Radioterapêutica , Estudos Retrospectivos , Sarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Análise de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
CASE: An 82-year-old woman underwent right total knee replacement with a sequentially irradiated and annealed highly cross-linked polyethylene insert. At 9 years, she was found to have a massive femoral osteolysis with an impending fracture. CONCLUSION: This case demonstrates a rare occurrence of massive femoral osteolysis, requiring revision surgery, with a sequentially irradiated and annealed highly cross-linked polyethylene.
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CONTEXT: Loop Electrosurgical Excision Procedure (LEEP) is commonly performed after cervical biopsy diagnosis of high grade squamous intraepithelial lesion (HSIL/CIN2 or CIN 3). Histological and immunohistochemical assessments are made to differentiate reactive and metaplastic changes from dysplastic changes. A Human Papillomavirus (HPV) test is used for prognostic assessment after conization. OBJECTIVE: We retrospectively reviewed cases where the cervical biopsy showed HSIL but the LEEP specimen was negative for high grade dysplasia. Our aim was to determine the cause of miscorrelation. DATA: IRB approval was obtained and a search was made of all LEEP specimens received during 2018. We reviewed 25 of 137 LEEP specimens that did not correlate with the diagnosis of HSIL rendered on the cervical biopsy. These were from women between 25 to 54 years. All cases had positive high-risk HPV with 80% being non16/18 subtype. On review, 8/25 had HSIL with the remainder of cases falling short of HSIL diagnosis. Follow up cytology with HPV test after the LEEP procedure was negative in all but one case of LSIL with persistent non-16/18 HPV. CONCLUSION: The study highlights the diagnostic difficulties of distinguishing HSIL from immature squamous metaplasia. The practical implication is that in cases with non-16/18 high risk HPV which have thin epithelium and fall short of definite morphologic criteria of HSIL, presence of immature squamous metaplasia should be carefully evaluated. The specific role of CK7 and CK17 which highlight squamocolumnar junctional cells and metaplastic cells, respectively, needs to be explored in these cases.
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INTRODUCTION: This is the first study to evaluate the accuracy of bile duct brushings since the introduction of single operator cholangioscopy SpyGlass DS system in 2015. The primary aim of our study was to compare the accuracy of cytology brushings against biopsies obtained at endoscopic retrograde cholangiopancreatography (ERCP) and cholangioscopy. METHOD: A retrospective search for bile duct brushing specimens was performed and the charts reviewed. The gold standard for definitive diagnosis of malignancy was surgical tissue or compelling clinical evidence of malignancy. Definite negative diagnosis relied on lack of clinical/imaging features of malignancy on follow-up. RESULTS: There was no significant difference in diagnostic accuracy of cytology specimens obtained at different procedures. Overall sensitivity for all methods was 59%, specificity 90% and accuracy of 82%. Notably, all four false-positive cases except for one were from patients with primary sclerosing cholangitis or primary biliary sclerosis. There was no significant difference in sensitivity or specificity between biopsies procured by the two methods. The combined biopsy sensitivity for all modalities was 44% with a specificity of 100%. There was 70% concordance between cytology and biopsy cases. The overall specificity and sensitivity of the combined cytology and biopsy result was 85% and 65.3%, respectively. Ranking of factors that predict clinical diagnosis shows cytology results to surpass other parameters including pancreatic mass, age and stenosis length. Similarly, the presence of two cell populations and three-dimensional clusters was not nearly as predictive of malignancy as single malignant cells. CONCLUSION: Biliary brush cytology specimens performed better than biopsies irrespective of whether they are procured during ERCP or cholangioscopy. The combination of cytology and biopsy had the best accuracy than either one alone.
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Neoplasias dos Ductos Biliares/diagnóstico , Neoplasias dos Ductos Biliares/patologia , Ductos Biliares/patologia , Colangiopancreatografia Retrógrada Endoscópica/métodos , Citodiagnóstico/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Procedimentos Cirúrgicos do Sistema Biliar/métodos , Biópsia/métodos , Criança , Colangiocarcinoma/tratamento farmacológico , Colangiocarcinoma/patologia , Colangite Esclerosante/diagnóstico , Colangite Esclerosante/patologia , Constrição Patológica/diagnóstico , Constrição Patológica/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto JovemRESUMO
Nodular fasciitis (NF) typically presents as an enlarging soft tissue mass with imaging characteristics that may be suggestive of soft tissue sarcoma or desmoid tumor. This presentation can make a correct diagnosis and management of patients with NF a challenge. We report our recent experience with two cases of NF that were both referred with a diagnoses of "soft tissue sarcoma." Patient 1 was a 46-year-old woman who had undergone breast augmentation and was referred with a rapidly growing firm mass on the left chest wall beneath the breast implant. Computed tomography of the chest noted the mass to be 8 cm x 11 cm in size displacing the implant laterally with no radiological involvement of the bony structures of the chest. Core biopsy was suggestive of inflammation only. Given the clinical suspicion of malignancy, the patient underwent resection of the mass with implant removal. Final pathology showed NF. Patient 2 was a 65-year-old woman referred with an enlarging tender 3-cm infraclavicular mass and a clinical diagnosis of "soft tissue sarcoma." Preoperative biopsy suggested NF. The patient underwent complete excision, which confirmed the diagnosis. These cases highlight the clinical issues associated with management of patients with NF. Current approaches to evaluation, diagnosis, and treatment of NF are discussed.
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Fasciite/diagnóstico , Fasciite/cirurgia , Sarcoma/diagnóstico , Diagnóstico Diferencial , Fasciite/complicações , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: The American Society for Colposcopy and Cervical Pathology 2006 consensus guidelines state that oncogenic human papillomavirus (HPV) DNA testing is unacceptable for patients 20 years and younger with atypical squamous cells of undetermined significance (ASC-US). The objective of this study is to determine the HPV frequency in ASC-US patients 20 years and younger and to investigate subsequent colposcopic diagnoses. MATERIALS AND METHODS: Cytopathology records at the University of Florida/Shands-UF were reviewed from March 2003 to June 2007 to identify patients 20 years and younger with ASC-US on screening Pap tests. Human papillomavirus test results and subsequent colposcopic diagnoses were recorded. RESULTS: A total of 333 patients were identified. Seventy-five were not HPV tested. Of the remaining 258, 127 (49%) were negative(-) for HPV, whereas 131 (51%) were HPV positive(+).In the HPV(-) population (n=127), 3 (2%) patients were referred for colposcopy and had benign findings. In the HPV(+) population (n=131), 48 (37%) patients were referred for colposcopy. Of these 48, 25 had benign colposcopic findings, 12 had cervical intraepithelial neoplasia 1 (CIN 1), and 11 had CIN 2/3. No invasive disease was identified. Nine of the 11 patients with CIN 2/3 were 18 years and older. CONCLUSIONS: In our institution, 51% of ASC-US patients 20 years and younger were HPV(+). Colposcopy with subsequent histological diagnosis, available on 48 patients, demonstrated 11 (23%) of the HPV(+) group to have CIN 2/3. The American Society for Colposcopy and Cervical Pathology guidelines recommend observation (via repeat colposcopy and cytology) for adolescents with CIN 2 and treatment (via excision or ablation) for CIN 3. Human papillomavirus testing ASC-US adolescents in our institution may be "acceptable."
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DNA Viral/isolamento & purificação , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/patologia , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Adolescente , Colposcopia , Feminino , Humanos , Programas de Rastreamento , Invasividade Neoplásica , Papillomaviridae/genética , Adulto JovemRESUMO
Pulmonary artery sarcoma is a rare malignancy with poor prognosis which can be misdiagnosed as pulmonary thromboembolism. We present a case of a middle age woman who initially diagnosed with presumptive pulmonary embolism that was later found to have pulmonary artery sarcoma. Symptoms, pathology, imaging characteristics and available treatments are discussed.
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In vitro head and neck cancer studies have demonstrated that epidermal growth factor receptor kinase substrate 8 (Eps8) overexpression contributes to squamous carcinogenesis. Oral squamous cell carcinoma studies have correlated Eps8 expression with metastatic disease and poor prognosis. Head and neck squamous cell carcinoma (HNSCC) studies comparing its expression by anatomic site or in in vivo regional metastases have not been performed. In this study, we compared Eps8 expression in HNSCCs arising in the oral cavity (OCSCC) and oropharynx (OPSCC) along with their corresponding regional lymph node (LN) metastases. We then correlated our findings with clinicopathologic data including tumor-node-metastasis stage, p16 status, age, sex, and smoking and alcohol history. Eps8 immunohistochemistry was performed on 69 archived OCSCCs and OPSCCs, and 24 paired and 4 unpaired LNs. Expression was scored from 0 to 3. Eps8 expression was detected in 49% of combined OCSCC and OPSCC cases. We found that expression correlated with advanced tumor stage (P = .022) and p16 status (P = .032) but not with anatomic site. Notably, p16+ HNSCCs had significantly lower Eps8 expression than p16- HNSCCs. No significant difference was observed between primary HNSCCs and their corresponding metastatic LNs. Neither p16 status nor anatomic site influenced Eps8 expression in regional LN metastases. In conclusion, our data offer in vivo support that, in HNSCCs, Eps8 is involved in tumor invasion but not necessarily the development of regional LN metastasis. The association between low Eps8 expression and p16+ HNSCCs suggests that alternative signaling pathways may be used for their tumorigenesis.
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Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Carcinoma de Células Escamosas/patologia , Papillomavirus Humano 16/patogenicidade , Metástase Linfática/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinogênese/patologia , Carcinoma de Células Escamosas/genética , Feminino , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/virologia , Humanos , Imuno-Histoquímica/métodos , Linfonodos/patologia , Masculino , Pessoa de Meia-Idade , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/virologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/virologiaRESUMO
Over the past decade, there have been remarkable advances in bone tumor pathology. Insights into the genetic basis and pathobiology of many tumor types have impacted diagnosis, classification, and treatment. However, because gnathic lesions may comprise only a small proportion of cases overall for many tumors, clinicopathologic features and management considerations specific to this subset may be overlooked. Here we provide a summary of recent developments in the following tumor types: osteosarcoma (OS), chondrosarcoma (CS), osteoid osteoma (OO), osteoblastoma (OB), and Ewing sarcoma (ES). In particular, we will give special consideration to cases arising in the jaws.
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Condrossarcoma/patologia , Neoplasias Maxilomandibulares/patologia , Osteoblastoma/patologia , Osteoma Osteoide/patologia , Osteossarcoma/patologia , Sarcoma de Ewing/patologia , Neoplasias Ósseas/patologia , Cartilagem/patologia , HumanosRESUMO
This article describes the clinical, radiographic, gross, microscopic, and histologic features; differential diagnosis; molecular pathology; treatment; and prognosis of fibrous dysplasia, osteofibrous dysplasia, and adamantinoma of long bones.
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BACKGROUND: Theranostic nanomaterials composed of fluorescent and photothermal agents can both image and provide a method of disease treatment in clinical oncology. For in vivo use, the near-infrared (NIR) window has been the focus of the majority of studies, because of greater light penetration due to lower absorption and scatter of biological components. Therefore, having both fluorescent and photothermal agents with optical properties in the NIR provides the best chance of improved theranostic capabilities utilizing nanotechnology. METHODS: We developed nonplasmonic multi-dye theranostic silica nanoparticles (MDT-NPs), combining NIR fluorescence visualization and photothermal therapy within a single nanoconstruct comprised of molecular components. A modified NIR fluorescent heptamethine cyanine dye was covalently incorporated into a mesoporous silica matrix and a hydrophobic metallo-naphthalocyanine dye with large molar absorptivity was loaded into the pores of these fluorescent particles. The imaging and therapeutic capabilities of these nanoparticles were demonstrated in vivo using a direct tumor injection model. RESULTS: The fluorescent nanoparticles are bright probes (300-fold enhancement in quantum yield versus free dye) that have a large Stokes shift (>110 nm). Incorporation of the naphthalocyanine dye and exposure to NIR laser excitation results in a temperature increase of the surrounding environment of the MDT-NPs. Tumors injected with these NPs are easily visible with NIR imaging and produce significantly elevated levels of tumor necrosis (95%) upon photothermal ablation compared with controls, as evaluated by bioluminescence and histological analysis. CONCLUSION: MDT-NPs are novel, multifunctional nanomaterials that have optical properties dependent upon the unique incorporation of NIR fluorescent and NIR photothermal dyes within a mesoporous silica platform.