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1.
Laryngoscope ; 130(4): 939-945, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31077394

RESUMO

OBJECTIVE: To comprehensively examine the prognostic significance of extranodal extension (ENE) in human papillomavirus-positive oropharyngeal squamous cell carcinoma (HPV-positive OPSCC). METHODS: Retrospective cohort of cases diagnosed with HPV-positive OPSCC from 2010 to 2015 in the National Cancer Database. Inclusion of all OPSCC HPV-positive cases with appropriate International Classification of Diseases-0-3 codes that received surgery with a neck dissection. Univariate and multivariable analyses were conducted. Hazard ratios (HR) for the independent effects of ENE and N stage on overall survival were estimated by Cox proportional hazards regression. RESULTS: Cases that were ENE-negative had the highest 5-year survival (92.6%; 95% confidence interval [CI]: 90.5%-94.7%). ENE-positive cases had the lowest 5-year survival (84.0%; 95% CI: 80.7%-87.4%). After adjusting for confounding variables, ENE-positivity was associated with almost twice the hazard of death (HR = 1.90; 95% CI: 1.35-2.67) compared to ENE-negative cases. Nodal (N) category 1, ENE-positive status was associated with an increased risk of death (HR = 1.88; 95% CI: 1.26-2.80) compared with N1, ENE-negative status. Compared to N1/ENE-negative cases, N2/ENE-positive cases had the poorest survival (HR: 2.93; 95% CI: 1.94-4.43). Both microscopic and macroscopic ENE were associated with worse outcomes compared to node-positive/ENE-negative status. CONCLUSION: The implementation of the American Joint Committee on Cancer 8th edition staging system provides a much-improved framework to develop and discuss treatment plans for HPV-positive OPSCC. We feel that careful consideration should be given to the importance of ENE in patients with HPV-positive OPSCC. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:939-945, 2020.


Assuntos
Carcinoma de Células Escamosas/patologia , Linfonodos/patologia , Estadiamento de Neoplasias/métodos , Neoplasias Orofaríngeas/patologia , Papillomaviridae , Infecções por Papillomavirus/patologia , Carcinoma de Células Escamosas/secundário , Carcinoma de Células Escamosas/virologia , Extensão Extranodal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pescoço , Neoplasias Orofaríngeas/virologia , Infecções por Papillomavirus/virologia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Estados Unidos/epidemiologia
2.
Head Neck Pathol ; 13(4): 705-710, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29974411

RESUMO

Ameloblastomas are the most common odontogenic tumors, excluding odontomas. Several morphologic variants have been described including follicular, plexiform, acanthomatous, granular cell, basaloid and desmoplastic. Desmoplastic ameloblastoma differs from other conventional ameloblastomas microscopically, clinically, and radiographically. Ameloblastic carcinoma, the malignant counterpart of ameloblastoma is characterized by cytologic features of malignancy combined within the overall histologic features of conventional ameloblastoma. Malignant transformation of ameloblastoma to squamous cell carcinoma is a controversial subject. Here we report a case of a desmoplastic ameloblastoma with malignant transformation to squamous cell carcinoma in a 49 year old African American man. The patient underwent tumor resection and radiation therapy with no evidence of disease recurrence or progression 16 months post operatively. To our knowledge malignant transformation of a desmoplastic ameloblastoma to squamous cell carcinoma has not so far been reported. This observation may lend some support to the argument that desmoplastic ameloblastoma is phenotypically and biologically distinct entity.


Assuntos
Ameloblastoma/patologia , Transformação Celular Neoplásica/patologia , Neoplasias Maxilares/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Humanos , Masculino , Pessoa de Meia-Idade
4.
Head Neck Pathol ; 12(4): 488-492, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29302899

RESUMO

Salivary duct carcinoma (SDC) is a high-grade salivary gland malignancy with great morphological resemblance to invasive ductal carcinoma (IDC) of the breast. Rarely, female patients may have a past history of both SDC and IDC. When these patients present with distant metastasis, accurate identification of the primary tumor is particularly difficult. Additionally, rare metastasis of SDC to the breast and IDC to the salivary (parotid) gland can also present a diagnostic challenge. Our aim was to develop an immunohistochemical panel that reliably distinguishes SDC from IDC. We included all SDCs diagnosed from 1989 to 2016 (23 cases) and 29 treatment naïve and histologically similar IDCs. All cases were stained with androgen receptor (AR), estrogen receptor-alpha (ER-α), progesterone receptor (PR), HER-2, CK5/6, p63, and beta-catenin. The great majority (> 90%) of both SDCs and IDCs reacted positively to AR. The main discrepancy in the immunohistochemical profiles was a distinctly different reactivity to ER-α, PR and HER-2. While 28 IDCs (96.6%) reacted positively to ER-α and/or PR, the majority expressing both (82.8%) with a moderate to strong staining intensity, only 2 SDCs expressed ER-α (8.7%) and 5 others expressed PR (21.7%) with only one case expressing both (P value < 0.05). On the other hand, 8 SDC (34.8%) were positive for HER-2 while none of the IDCs were positive (P value < 0.05). ER-α, PR, and HER-2 may be helpful to distinguish SDC from IDC. Positive reactivity to ER-α, PR or both and negative HER-2 favors a diagnosis of IDC while ER-α, PR negative, HER-2 positive tumors are more likely SDC.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal/diagnóstico , Neoplasias das Glândulas Salivares/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade
5.
Appl Immunohistochem Mol Morphol ; 26(4): 268-273, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-27389559

RESUMO

Oropharyngeal undifferentiated carcinomas are rare and most are human papillomavirus related. Morphologically, they overlap with undifferentiated carcinomas from other organ sites, including the nasopharynx, lung, and gastrointestinal tract. Most have lymph node metastases at presentation and, especially when initially encountered in a lymph node, immunostains may be performed to determine the most likely primary site. We recently reviewed a case in consultation that strongly and diffusely expressed both thyroid transcription factor-1 (TTF-1, SPT24 clone) and CDX2, 2 widely used markers that are considered relatively lineage specific for lung/thyroid and intestinal differentiation, respectively. Unexpected expression of these markers could be misleading. However, they have not been previously assessed in oropharyngeal undifferentiated carcinoma. Here, we performed immunohistochemistry for CDX2 and TTF-1 (8G7G3/1 clone) on primary tumors and/or lymph node metastases from 11 in-house patients with previously characterized undifferentiated carcinoma of the oropharynx from 1992 to 2008. All were male with an average age of 56.7 years, and 5 (46%) initially presented with a neck mass. All were Epstein-Barr virus negative and 9 (82%) were human papillomavirus and p16 positive. CDX2 was positive in 6 of the 11 (55%) cases. However, staining was generally weak to moderate and/or nondiffuse. TTF-1 was negative in all the in-house cases and showed only rare, weakly positive cells in the consult case when TTF-1 was repeated using the 8G7G3/1 clone. Thus, CDX2 immunoreactivity is common, whereas TTF-1 expression is rare in oropharyngeal undifferentiated carcinomas. As a result, one should not rely on CDX2 as evidence of intestinal differentiation or origin in metastatic undifferentiated carcinomas in the neck, particularly when staining is not strong and diffuse. In addition, TTF-1 should be interpreted with caution especially when using the SPT24 clone.


Assuntos
Biomarcadores Tumorais/metabolismo , Fator de Transcrição CDX2/metabolismo , Carcinoma/diagnóstico , Infecções por Vírus Epstein-Barr/diagnóstico , Herpesvirus Humano 4/fisiologia , Linfonodos/metabolismo , Neoplasias Orofaríngeas/diagnóstico , Fator Nuclear 1 de Tireoide/metabolismo , Diagnóstico Diferencial , Erros de Diagnóstico/prevenção & controle , Humanos , Imuno-Histoquímica , Linfonodos/patologia , Metástase Linfática , Masculino , Pessoa de Meia-Idade
6.
Bone ; 107: 161-171, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29175271

RESUMO

Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations. Histopathological analysis revealed benign fibro-osseous lesions resembling cemento-ossifying fibromas of the jaw without psammomatoid bodies. A novel, de novo, heterozygous, missense mutation was identified in exon 15 of ANO5 (c.1553G>A; p.Gly518Glu). Our findings broaden the phenotypic and molecular spectra of GDD. Fractures early in life with progressive facial swelling are key features. We assessed his response to a total of 7 pamidronate infusions commencing at age 15months. Additional reports must further elucidate the phenotype, explore any genotype-phenotype correlation, and evaluate treatments.


Assuntos
Anoctaminas/genética , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/patologia , Pré-Escolar , Humanos , Masculino , Mutação de Sentido Incorreto , Fenótipo
7.
Hum Pathol ; 66: 40-47, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28554574

RESUMO

Follicular dendritic cell sarcoma is a rare mesenchymal neoplasm that most commonly occurs in cervical lymph nodes. It has histologic and clinical overlap with the much more common p16-positive human papillomavirus (HPV)-related squamous cell carcinoma of the oropharynx, which characteristically has nonkeratinizing morphology and often presents as an isolated neck mass. Not surprisingly, follicular dendritic cell sarcomas are commonly misdiagnosed as squamous cell carcinoma. Immunohistochemistry is helpful in separating the 2 entities. Follicular dendritic cell sarcoma expresses dendritic markers such as CD21 and CD23 and is almost always cytokeratin negative. However, in many cases of HPV-related oropharyngeal carcinoma, only p16 immunohistochemistry as a prognostic and surrogate marker for HPV is performed. p16 expression in follicular dendritic cell sarcoma has not been characterized. Here, we investigate the expression of p16 in follicular dendritic cell sarcoma and correlate it with retinoblastoma protein expression. A pilot study of dendritic marker expression in HPV-related oropharyngeal squamous cell carcinoma was also performed. We found that 4 of 8 sarcomas expressed p16 with strong and diffuse staining in 2 cases. In 2 of the 4 cases, p16 expression corresponded to loss of retinoblastoma protein expression. Dendritic marker expression (CD21 and CD23) was not found in HPV-related oropharyngeal squamous cell carcinomas. As such, positive p16 immunohistochemistry cannot be used as supportive evidence for the diagnosis of squamous cell carcinoma as strong and diffuse p16 expression may also occur in follicular dendritic cell sarcoma. Cytokeratins and dendritic markers are critical in separating the two tumor types.


Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células Escamosas/química , Inibidor p16 de Quinase Dependente de Ciclina/análise , Sarcoma de Células Dendríticas Foliculares/metabolismo , Neoplasias de Cabeça e Pescoço/química , Neoplasias Orofaríngeas/química , Infecções por Papillomavirus/metabolismo , Adulto , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Sarcoma de Células Dendríticas Foliculares/patologia , Diagnóstico Diferencial , Feminino , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/virologia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Missouri , Neoplasias Orofaríngeas/patologia , Neoplasias Orofaríngeas/virologia , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/virologia , Projetos Piloto , Valor Preditivo dos Testes , Receptores de Complemento 3d/análise , Receptores de IgE/análise , Proteína do Retinoblastoma/análise , Carcinoma de Células Escamosas de Cabeça e Pescoço , Tennessee
8.
Am J Surg Pathol ; 41(4): 458-471, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28291122

RESUMO

To more fully characterize the clinical and pathologic spectrum of a recently described tumor entity of the sinonasal tract characterized by loss of nuclear expression of SMARCB1 (INI1), we analyzed 39 SMARCB1-deficient sinonasal carcinomas collected from multiple medical centers. The tumors affected 23 males and 16 females with an age range of 19 to 89 years (median, 52). All patients presented with locally advanced disease (T3, n=5; T4, n=27) involving the sinuses (mainly ethmoid) with variable involvement of the nasal cavity. Thirty patients received surgery and/or radiochemotherapy with curative intent. At last follow-up, 56% of patients died of disease 0 to 102 months after diagnosis (median, 15), 2 were alive with disease, and 1 died of an unrelated cause. Only 9 patients (30%) were alive without disease at last follow-up (range, 11 to 115 mo; median, 26). The original diagnosis of retrospectively identified cases was most often sinonasal undifferentiated carcinoma (n=14) and nonkeratinizing/basaloid squamous cell carcinoma (n=5). Histologically, most tumors displayed either a predominantly basaloid (61%) or plasmacytoid/rhabdoid morphology (36%). The plasmacytoid/rhabdoid form consisted of sheets of tumor cells with abundant, eccentrically placed eosinophilic cytoplasm, whereas similar cells were typically rare and singly distributed in the basaloid variant. Glandular differentiation was seen in a few tumors. None of the cases showed squamous differentiation or surface dysplasia. By immunohistochemistry, the tumors were positive for pancytokeratin (97%), CK5 (64%), p63 (55%), and CK7 (48%); and they were negative for NUT (0%). Epstein-Barr virus and high-risk human papillomavirus was not detected by in situ hybridization. Immunohistochemical loss of SMARCB1 (INI1) expression was confirmed for all 39 tumors. Investigation of other proteins in the SWI/SNF complex revealed co-loss of SMARCA2 in 4 cases, but none were SMARCA4 deficient or ARID1A deficient. Of 27 tumors with SMARCB1 fluorescence in situ hybridization analysis, 14 showed homozygous (biallelic) deletions and 7 showed heterozygous (monoallelic) deletions. SMARCB1-deficient sinonasal carcinoma represents an emerging poorly differentiated/undifferentiated sinonasal carcinoma that (1) cannot be better classified as another specific tumor type, (2) has consistent histopathologic findings (albeit with some variability) with varying proportions of plasmacytoid/rhabdoid cells, and (3) demonstrates an aggressive clinical course. This entity should be considered in any difficult-to-classify sinonasal carcinoma, as correct diagnosis will be mandatory for optimizing therapy and for further delineation of this likely underdiagnosed disease.


Assuntos
Biomarcadores Tumorais/deficiência , Carcinoma de Células Escamosas/química , Carcinoma/química , Neoplasias do Seio Maxilar/química , Neoplasias Nasais/química , Seios Paranasais/química , Proteína SMARCB1/deficiência , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Biópsia , Carcinoma/genética , Carcinoma/patologia , Carcinoma/terapia , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/terapia , Diferenciação Celular , Quimiorradioterapia Adjuvante , Feminino , Alemanha , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Imageamento por Ressonância Magnética , Masculino , Neoplasias do Seio Maxilar/genética , Neoplasias do Seio Maxilar/patologia , Neoplasias do Seio Maxilar/terapia , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Nasais , Estadiamento de Neoplasias , Neoplasias Nasais/genética , Neoplasias Nasais/patologia , Neoplasias Nasais/terapia , Seios Paranasais/patologia , Reação em Cadeia da Polimerase , Valor Preditivo dos Testes , Estudos Retrospectivos , Proteína SMARCB1/genética , Fatores de Tempo , Resultado do Tratamento , Estados Unidos , Adulto Jovem
9.
Head Neck Pathol ; 11(2): 152-161, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27492445

RESUMO

The clinical and pathologic characteristics of human papillomavirus (HPV)-related premalignant lesions in the upper aerodigestive tract have not been adequately studied. There are a few reports of oral cavity HPV-related severe dysplasia with unique morphology (prominent apoptosis/karyorrhexis imparting a 'bowenoid' appearance) and a single case report of HPV-related squamous cell carcinoma in situ with nonkeratinizing histology distinct from the 'bowenoid' pattern that extensively involved the upper aerodigestive tract. The aim of this study was to characterize the morphologic and clinical features of HPV-related severe dysplasia/carcinoma in situ. All cases of upper aerodigestive tract severe dysplasia/carcinoma in situ (111 cases from 98 patients) at Washington University from July 2012 to March 2015 were categorized into histologic types: keratinizing, nonkeratinizing, mixed or 'bowenoid'. There were 83 (85 %) patients with keratinizing, 3 (3 %) nonkeratinizing and 12 (12 %) mixed patterns. The previously reported 'bowenoid' morphology was not identified. All 3 (100 %) nonkeratinizing and 6 (50 %) mixed cases were p16 and HPV RNA in situ hybridization (RNA ISH) positive (100 % concordance between p16 and RNA ISH). Only 2 of 73 keratinizing cases were p16 positive, 1 of which was also HPV RNA ISH positive (1.4 % of keratinizing cases HPV-related). Thus, nonkeratinizing morphology was a strong predictor of transcriptionally-active HPV in severe dysplasia/carcinoma in situ. HPV-related cases most commonly occurred in the floor of mouth and were frequently extensive (≥4 cm) or unresectable.


Assuntos
Carcinoma in Situ/patologia , Carcinoma de Células Escamosas/patologia , Neoplasias de Cabeça e Pescoço/patologia , Infecções por Papillomavirus/complicações , Lesões Pré-Cancerosas/patologia , Idoso , Carcinoma in Situ/virologia , Carcinoma de Células Escamosas/virologia , Feminino , Neoplasias de Cabeça e Pescoço/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Lesões Pré-Cancerosas/virologia , Carcinoma de Células Escamosas de Cabeça e Pescoço
10.
Head Neck Pathol ; 11(3): 306-313, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27844410

RESUMO

Distant metastases are relatively common in breast cancer, but spread to the head and neck region is uncommon and can be diagnostically challenging. Pathology databases of two academic hospitals were searched for patients. The diagnoses were by morphologic comparison with the primary breast specimen (when available) or through the use of immunohistochemical stains characteristic of breast carcinoma (cytokeratin 7, mammaglobin, GCDFP15, and/or GATA3 positive-excluding new primary tumors at the respective head and neck sites). Of the 25 patients identified, only 22 (88.0 %) had a known history of breast carcinoma. Time from primary diagnosis to head and neck metastasis was highly variable, ranging from 1 to 33 years (mean = 10.9 years). The most common locations were neck lymph nodes (8 cases), orbital soft tissue (5), oral cavity (3), skull base (3), mastoid sinus (2), nasal cavity (1), palatine tonsil (1), and facial skin (1). Clinical presentations were highly variable, ranging from cranial nerve palsies without a mass lesion to oral cavity erythema and swelling to bone pain. Histologically, two cases showed mucosal (or skin)-based mass lesions with associated pagetoid spread in the adjacent epithelium, a feature normally associated with primary carcinomas. Three tumors were misdiagnosed pathologically as new head and neck primary tumors. This series demonstrates the extreme variability in clinical and pathologic features of breast cancer metastatic to the head and neck, including long time intervals to metastasis.


Assuntos
Neoplasias da Mama/patologia , Carcinoma/secundário , Neoplasias de Cabeça e Pescoço/secundário , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade
11.
Am J Surg Pathol ; 40(8): 1117-24, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27035614

RESUMO

Oropharyngeal squamous cell carcinomas (OPSCCs) associated with human papillomavirus (HPV) represent a distinct clinical and pathologic entity. The majority of HPV-related OPSCCs have a characteristic nonkeratinizing morphology. This study sought to determine the strength of the association between nonkeratinizing histology and HPV status compared with other squamous cell carcinoma variants in 4 years of routine clinical practice on a high-volume head and neck service. Primary and/or nodal metastatic tumors in all cases of OPSCC from 2010 to 2013 were typed by 1 of 3 head and neck pathologists as keratinizing, nonkeratinizing, nonkeratinizing with maturation, or another defined variant. All were assessed for p16 by immunohistochemistry with a 70% nuclear and cytoplasmic positivity cutoff as part of routine clinical practice. In addition, 70 consecutive cases from 1 year were "audited" for high-risk HPV mRNA by reverse transcription polymerase chain reaction and in situ hybridization. Of the 435 cases, the majority (90%) consisted of 1 of the 3 main types described and the rest (10%) of uncommon variants. Nonkeratinizing morphology had 99.1% and 100.0% positive predictive value for p16 and high-risk HPV mRNA positivity, respectively. Nonkeratinizing with maturation, keratinizing, and other specific squamous cell carcinoma variants were p16 positive in 91.8%, 22.8%, and 79.5%, respectively. All 47 nonkeratinizing OPSCCs tested for HPV mRNA were positive. In summary, strictly defined nonkeratinizing OPSCC (which constitutes ∼55% of all tumors) essentially implies positivity for both p16 and transcriptionally active high-risk HPV.


Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Inibidor p16 de Quinase Dependente de Ciclina/biossíntese , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/virologia , Neoplasias Orofaríngeas/patologia , Neoplasias Orofaríngeas/virologia , Inibidor p16 de Quinase Dependente de Ciclina/análise , Humanos , Imuno-Histoquímica , Hibridização In Situ , Papillomaviridae , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/diagnóstico , Reação em Cadeia da Polimerase , RNA Mensageiro , RNA Viral/análise , Sensibilidade e Especificidade , Carcinoma de Células Escamosas de Cabeça e Pescoço
12.
Arch Pathol Lab Med ; 139(12): 1539-45, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26619026

RESUMO

CONTEXT: Medical error is a significant problem in the United States, and pathologic diagnoses are a significant source of errors. Prior studies have shown that second-opinion pathology review results in clinically major diagnosis changes in approximately 0.6% to 5.8% of patients. The few studies specifically on head and neck pathology have suggested rates of changed diagnoses that are even higher. Objectives .- To evaluate the diagnostic discrepancy rates in patients referred to our institution, where all such cases are reviewed by a head and neck subspecialty service, and to identify specific areas with more susceptibility to errors. DESIGN: Five hundred consecutive, scanned head and neck pathology reports from patients referred to our institution were compared for discrepancies between the outside and in-house diagnoses. Major discrepancies were defined as those resulting in a significant change in patient clinical management and/or prognosis. RESULTS: Major discrepancies occurred in 20 cases (4% overall). Informative follow-up material was available on 11 of the 20 patients (55.0%), among whom, the second opinion was supported in 11 of 11 cases (100%). Dysplasia versus invasive squamous cell carcinoma was the most common (7 of 20; 35%) area of discrepancy, and by anatomic subsite, the sinonasal tract (4 of 21; 19.0%) had the highest rate of discrepant diagnoses. Of the major discrepant diagnoses, 12 (12 of 20; 60%) involved a change from benign to malignant, one a change from malignant to benign (1 of 20; 5%), and 6 involved tumor classification (6 of 20; 30%). CONCLUSIONS: Head and neck pathology is a relatively high-risk area, prone to erroneous diagnoses in a small fraction of patients. This study supports the importance of second-opinion review by subspecialized pathologists for the best care of patients.


Assuntos
Erros de Diagnóstico/estatística & dados numéricos , Neoplasias de Cabeça e Pescoço/diagnóstico , Cabeça/patologia , Pescoço/patologia , Patologia Clínica , Centros Médicos Acadêmicos , Neoplasias de Cabeça e Pescoço/classificação , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Missouri , Prognóstico , Encaminhamento e Consulta
13.
Semin Diagn Pathol ; 32(1): 23-31, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25804342

RESUMO

During the last few decades, a phenotypically distinct type of head and neck squamous cell carcinoma (SCC), which is etiologically related to human papillomavirus (HPV), has emerged, and its prevalence continues to increase. The tumors are site-specific with special predilection for the oropharynx. They are morphologically and molecularly distinct and are responsive to different types of treatment modalities, with excellent clinical outcome, in spite of early lymph node metastasis. Microscopically, the carcinomas are nonkeratinizing SCCs. More recently, other variants that are believed to be etiologically related to HPV are reported. As a result, several clinical and pathologic questions have emerged. Importantly, whether the virus is biologically active in these tumors and involved in their pathogenesis, and second, what are the clinical implications with regard to patient management and outcome in these HPV-related variants. This review is an attempt to answer some of these questions based on information derived from available yet limited number of publications. The variants to be discussed include nonkeratinizing SCC (NKSCC), NKSCC with maturation (hybrid type), keratinizing SCC (KSSC), basaloid squamous carcinoma (BSCC), undifferentiated carcinoma (UC), papillary SCC (PSCC), small cell carcinoma, adenosquamous carcinoma (AdSCC), and spindle cell (sarcomatoid) carcinoma.


Assuntos
Carcinoma de Células Escamosas/patologia , Neoplasias de Cabeça e Pescoço/patologia , Infecções por Papillomavirus/patologia , Biomarcadores Tumorais/análise , Biópsia , Carcinoma de Células Escamosas/classificação , Carcinoma de Células Escamosas/virologia , Neoplasias de Cabeça e Pescoço/classificação , Neoplasias de Cabeça e Pescoço/virologia , Humanos , Imuno-Histoquímica , Hibridização In Situ , Papillomaviridae/genética , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/virologia , Valor Preditivo dos Testes , Prognóstico , RNA Viral/análise , Carcinoma de Células Escamosas de Cabeça e Pescoço , Terminologia como Assunto
14.
Cancer Med ; 4(6): 791-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25712893

RESUMO

The BRAF mutation occurs commonly in papillary thyroid carcinoma (PTC). Previous investigations of its utility to predict recurrence-free survival (RFS) and disease-specific survival (DSS) have reported conflicting results and its role remains unclear. The purpose of this retrospective study was to determine the incidence of the BRAF mutation and analyze its relationship to clinicopathologic risk factors and long-term outcomes in the largest, single-institution American cohort to date. BRAF mutational status was determined in 508 PTC patients using RFLP analysis. The relationships between BRAF mutation status, patient and tumor characteristics, RFS, and DSS were analyzed. The BRAF mutation was present in 67% of patients. On multivariate analysis, presence of the mutation predicted only for capsular invasion (HR, 1.7; 95% CI, 1.1-2.6), cervical lymph node involvement (HR, 1.7; 95% CI, 1.1-2.7), and classic papillary histology (HR, 1.8; 95% CI 1.1-2.9). There was no significant relationship between the BRAF mutation and RFS or DSS, an observation that was consistent across univariate, multivariate, and Kaplan-Meier analyses. This is the most extensive study to date in the United States to demonstrate that BRAF mutation is of no predictive value for recurrence or survival in PTC. We found correlations of BRAF status and several clinicopathologic characteristics of high-risk disease, but limited evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that BRAF is minimally prognostic in PTC. However, prevalence of the BRAF mutation is 70% in the general population, providing the opportunity for targeted therapy.


Assuntos
Carcinoma/genética , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma/mortalidade , Carcinoma/cirurgia , Carcinoma Papilar , Criança , Pré-Escolar , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/mortalidade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Estados Unidos/epidemiologia , Adulto Jovem
15.
Am J Surg Pathol ; 39(5): 714-21, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25634744

RESUMO

The sinonasal tract harbors several different types of papillomas, some of which can progress to carcinoma. The most frequent among these are inverted and oncocytic Schneiderian papillomas. The rates of progression are somewhat controversial but are approximately 5% to 10% and are almost invariably described in the literature as in situ or invasive squamous cell carcinoma. Other carcinoma types, such as mucoepidermoid and sinonasal undifferentiated carcinoma, have also been described. Almost all of the described patterns of malignancy involve frank carcinoma with overtly dysplastic nuclear features, lack of cell maturation, and increased mitotic activity. Some squamous cell carcinomas, particularly nonkeratinizing, can grow in a papillary pattern, appearing to only line the surface epithelium, but they are cytologically overtly malignant throughout. In this case report, however, we describe a novel, human papillomavirus-negative, papillary carcinoma, which presented as a left nasal and maxillary sinus exophytic and inverted-appearing, papillomatous mass with very bland cytomorphology. The initial features were not typical for any defined Schneiderian papilloma but were also not clearly diagnostic of papillary carcinoma. The tumor recurred >10 times over 18 years despite extensive surgical resection including orbital exenteration. The tumor retained a bland appearance throughout the patient's entire clinical course, but did develop a pushing pattern of stromal invasion, increased mitotic activity, vesicular nuclei with prominent nucleoli, lymph node metastases, and eventually overwhelming local recurrence and nodal metastases, resulting in death. This tumor seems best characterized as a low-grade papillary Schneiderian carcinoma and appears to represent a novel type of sinonasal carcinoma.


Assuntos
Carcinoma Papilar/patologia , Neoplasias do Seio Maxilar/patologia , Mucosa Nasal/patologia , Recidiva Local de Neoplasia/patologia , Idade de Início , Idoso , Evolução Fatal , Feminino , Humanos , Metástase Linfática/patologia , Pessoa de Meia-Idade , Gradação de Tumores , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa
16.
Head Neck ; 37(1): 52-63, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24430914

RESUMO

BACKGROUND: Appreciable local recurrence rates observed in patients with margin-negative, transoral laser microsurgery (TLM)-treated oral cavity squamous cell carcinoma (SCC) necessitate identification of new prognosticators for local control and survival. A histopathologic index (Brandwein-Gensler score [BGS]) and intrinsic/iatrogenic/chronic conditions causing immune compromise are investigated. METHODS: From a prospectively assembled database of TLM-treated oral cavity SCC, specimens for 60 patients with a minimum of 2-years follow-up could undergo BGS assignment. Local control, disease-specific survival (DSS), and overall survival (OS) were study endpoints. RESULTS: "Low-BGS" was recorded in 28 patients (47%) and "high-BGS" in 32 patients (53%), whereas immune compromise was observed in 18%. In multivariate analyses, immune compromise was the only predictor for local control. T classification and immune compromise were prognostic for DSS and OS. "High-BGS" was prognostic only for OS. CONCLUSION: "High-BGS" was associated with recurrences but immune compromise was the most significant predictor of local control and survival in margin-negative, TLM-treated oral cavity SCC. Strategies that maintain/restore tumor-specific immune responses in immune compromised oral cavity SCC hosts need to be developed.


Assuntos
Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Terapia a Laser , Microcirurgia , Neoplasias Bucais/mortalidade , Neoplasias Bucais/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/cirurgia , Estudos de Coortes , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/cirurgia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Fatores de Risco , Taxa de Sobrevida , Resultado do Tratamento , Adulto Jovem
17.
Head Neck Pathol ; 9(1): 65-73, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24947053

RESUMO

Verrucous carcinomas (VC) recur locally but do not metastasize in the absence of an invasive squamous cell carcinoma (SCC) component. Although excluded from the definition of pure VC, some tumors harbor only dysplasia or minimal invasion, findings of unknown clinical significance. Surgically resected VC cases from two institutions were collected and categorized into three types: VC, VC with dysplasia or minimal invasion (VCDMI), defined as SCC less than or equal to 2 mm in depth, and SCC arising in VC (SCC-VC) where the SCC was greater than 2 mm in depth. Cases were also matched with conventional SCC based on location and T and N-stages, and clinical follow up was obtained. Of the 58 total cases, 18 were VC, 26 VCDMI, and 14 SCC-VC. Only 1 of 18 (5.6 %) VC and 5 of 26 (19.2 %) VCDMI cases recurred locally (p = 0.37) versus 7 of 14 (50 %) SCC-VC (p = 0.01). All VC and VCDMI cases were node negative at presentation whereas SCC-VC had nodal metastases in 2 of 14 (14.3 %) cases. No patients with VC or VCDMI died from disease, whereas 5 of 14 (35.7 %) patients with SCC-VC died from disease. T-stage matched conventional SCC cases from institutional databases had worse outcomes than VC and VCDMI, but not after they were matched for both T and N-stages. Our findings suggest that dysplasia and/or minimal invasive SCC do not adversely affect outcomes in tumors otherwise showing diagnostic features of VC.


Assuntos
Carcinoma de Células Escamosas/patologia , Carcinoma Verrucoso/patologia , Neoplasias de Cabeça e Pescoço/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Prognóstico , Carcinoma de Células Escamosas de Cabeça e Pescoço
18.
Am J Surg Pathol ; 39(2): 260-5, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25321328

RESUMO

Papillary thyroid carcinoma is the most common thyroid carcinoma and has a generally favorable prognosis. There are several well-characterized variants, some of which are associated with more aggressive clinical behavior. Hobnail is a recently described rare variant that appears to behave more aggressively. Initial reports characterizing this variant focused on primary tumors and excluded other recognized variants, as well as poorly differentiated and anaplastic thyroid carcinomas, from analysis. Here, we evaluate the frequency of hobnail features in both primary and metastatic papillary thyroid carcinomas, including in association with other known variants, and also in poorly differentiated and anaplastic thyroid carcinomas. Primary and metastatic papillary thyroid carcinomas from a 5-year period (2007 to 2011) and all available anaplastic and poorly differentiated thyroid carcinomas from a 22-year period (1989 to 2011) were retrieved from the files. Tumors from 478 papillary, 26 anaplastic, and 18 poorly differentiated thyroid carcinomas were reviewed for hobnail features present in >10% of each tumor. Hobnail features were most commonly observed in association with poorly differentiated thyroid carcinoma (4 of 18 cases, 22%) and were seen in only 1.3% of papillary thyroid carcinoma patients (6 of 478). One of 26 anaplastic carcinomas had hobnail features (3.8%). Among the papillary thyroid carcinomas, hobnail features were often associated with other histologic variants that are known to be more clinically aggressive, had increased mitotic activity, and/or necrosis and lymph node metastases at presentation. These findings suggest that hobnail features may be a manifestation of higher-grade transformation.


Assuntos
Carcinoma/patologia , Transformação Celular Neoplásica/patologia , Carcinoma Anaplásico da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Adulto , Idoso , Carcinoma/epidemiologia , Carcinoma/genética , Carcinoma Papilar , Transformação Celular Neoplásica/genética , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Retrospectivos , Câncer Papilífero da Tireoide , Carcinoma Anaplásico da Tireoide/epidemiologia , Carcinoma Anaplásico da Tireoide/genética , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/genética , Adulto Jovem
19.
Ecancermedicalscience ; 8: 480, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25435908

RESUMO

Human papilloma virus (HPV)-related oropharyngeal squamous cell carcinoma (OPSCC) is associated with a favourable prognosis, although approximately 20-25% of patients ultimately develop recurrent cancer. Most disease recurrence events appear within 3 years; however, long-term follow-up of reported studies are limited, and the risk of late recurrence is unknown. We present a case report of a patient who developed distant metastases of HPV-related SCC 11 years after initial diagnosis and treatment of HPV-related OPSCC. Late disease recurrence may occur after initial diagnosis of HPV-related OPSCC. This observation has implications on the appropriate duration of follow-up and surveillance of these patients.

20.
Head Neck Pathol ; 8(4): 432-44, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25409854

RESUMO

Benign fibro-osseous lesions of the craniofacial skeleton (BFOL) are a variant group of intraosseous disease processes that share similar microscopic features characterized by hypercellular fibroblastic stroma containing various combinations of bone or cementum-like tissue and other calcified structures [1-6]. Whereas some are diagnosable histologically, most require a combined assessment of clinical, microscopic and radiologic features. Some BFOL of the craniofacial complex are unique to that location whereas others are encountered in bones from other regions. Reactive, neoplastic, developmental and dysplastic pathologic processes are included under the rubric of BFOL and treatment varies from disease to disease. This review will discuss the clinical, microscopic and radiologic aspects of the more important types of BFOL of the craniofacial complex with updated information on underlying genetic and molecular pathogenic mechanisms of disease. Four main groups of BFOLs will be addressed.


Assuntos
Neoplasias Ósseas/patologia , Ossos Faciais/patologia , Fibroma Ossificante/patologia , Displasia Fibrosa Poliostótica/patologia , Crânio/patologia , Humanos
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