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1.
Oncologist ; 29(3): 192-199, 2024 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-37995312

RESUMO

The current work-up of the primary tumor site of a head and neck squamous cell carcinoma of unknown primary is not standardized and results in several time-consuming procedures that delay treatment initiation. This article seeks to consolidate contemporary strategies used to identify the primary tumor site of an unknown primary head and neck squamous cell carcinoma and offer recommendations based on current literature review.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Primárias Desconhecidas , Humanos , Carcinoma de Células Escamosas de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/terapia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Pescoço/patologia , Neoplasias Primárias Desconhecidas/diagnóstico , Neoplasias Primárias Desconhecidas/patologia
2.
Am J Med Genet A ; 194(6): e63540, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38243407

RESUMO

Coffin-Siris Syndrome (CSS, MIM 135900) is now a well-described genetic condition caused by pathogenic variants in the Bromocriptine activating factor (BAF) complex, including ARID1B, ARID1A, ARID2, SMARCA4, SMARCE1, SMARCB1, SOX11, SMARCC2, DPF2, and more recently, BICRA. Individuals with CSS have a spectrum of various medical challenges, most often evident at birth, including feeding difficulties, hypotonia, organ-system anomalies, and learning and developmental differences. The classic finding of fifth digit hypo- or aplasia is seen variably. ARID2, previously described, is one of the less frequently observed gene changes in CSS. Although individuals with ARID2 have been reported to have classic features of CSS including hypertrichosis, coarse facial features, short stature, and fifth digit anomalies, as with many of the other CSS genes, there appears to be a spectrum of phenotypes. We report here a cohort of 17 individuals with ARID2 variants from the Coffin-Siris/BAF clinical registry and detail their medical challenges as well as developmental progress. Feeding difficulties, hypotonia, and short stature occur often, and hip dysplasia appears to occur more often than with other genes, however more severe medical challenges such as significant brain and cardiac malformations are rarer. Individuals appear to have mild to moderate intellectual impairment and may carry additional diagnoses such as ADHD. Further phenotypic description of this gene will aid clinicians caring for individuals with this rarer form of CSS.


Assuntos
Anormalidades Múltiplas , Face/anormalidades , Deformidades Congênitas da Mão , Deficiência Intelectual , Micrognatismo , Pescoço , Pescoço/anormalidades , Fenótipo , Fatores de Transcrição , Humanos , Micrognatismo/genética , Micrognatismo/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Pescoço/patologia , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/diagnóstico , Masculino , Feminino , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Criança , Pré-Escolar , Lactente , Mutação/genética , Adolescente , Proteínas de Ligação a DNA/genética , Predisposição Genética para Doença
3.
Am J Med Genet A ; 194(7): e63567, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38389298

RESUMO

Biallelic variants in the OTUD6B gene have been reported in the literature in association with an intellectual developmental disorder featuring dysmorphic facies, seizures, and distal limb abnormalities. Physical differences described for affected individuals suggest that the disorder may be clinically recognizable, but previous publications have reported an initial clinical suspicion for Kabuki syndrome (KS) in some affected individuals. Here, we report on three siblings with biallelic variants in OTUD6B co-segregating with neurodevelopmental delay, shared physical differences, and other clinical findings similar to those of previously reported individuals. However, clinical manifestations such as long palpebral fissures, prominent and cupped ears, developmental delay, growth deficiency, persistent fetal fingertip pads, vertebral anomaly, and seizures in the proband were initially suggestive of KS. In addition, previously unreported clinical manifestations such as delayed eruption of primary dentition, soft doughy skin with reduced sweating, and mirror movements present in our patients suggest an expansion of the phenotype, and we perform a literature review to update on current information related to OTUD6B and human gene-disease association.


Assuntos
Anormalidades Múltiplas , Face , Doenças Hematológicas , Fenótipo , Irmãos , Doenças Vestibulares , Criança , Pré-Escolar , Humanos , Masculino , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Alelos , Endopeptidases/genética , Face/anormalidades , Face/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Doenças Hematológicas/genética , Doenças Hematológicas/patologia , Doenças Hematológicas/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Mutação/genética , Pescoço/anormalidades , Pescoço/patologia , Doenças Vestibulares/genética , Doenças Vestibulares/patologia , Doenças Vestibulares/diagnóstico
4.
Cancer Control ; 31: 10732748241262177, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38881040

RESUMO

BACKGROUND AND OBJECTIVE: Cervical lymph node metastasis (CLNM) is considered a marker of papillar Fethicy thyroid cancer (PTC) progression and has a potential impact on the prognosis of PTC. The purpose of this study was to screen for predictors of CLNM in PTC and to construct a predictive model to guide the surgical approach in patients with PTC. METHODS: This is a retrospective study. Preoperative dual-energy computed tomography images of 114 patients with pathologically confirmed PTC between July 2019 and April 2023 were retrospectively analyzed. The dual-energy computed tomography parameters [iodine concentration (IC), normalized iodine concentration (NIC), the slope of energy spectrum curve (λHU)] of the venous stage cancer foci were measured and calculated. The independent influencing factors for predicting CLNM were determined by univariate and multivariate logistic regression analysis, and the prediction models were constructed. The clinical benefits of the model were evaluated using decision curves, calibration curves, and receiver operating characteristic curves. RESULTS: The statistical results show that NIC, derived neutrophil-to-lymphocyte ratio (dNLR), prognostic nutritional index (PNI), gender, and tumor diameter were independent predictors of CLNM in PTC. The AUC of the nomogram was .898 (95% CI: .829-.966), and the calibration curve and decision curve showed that the prediction model had good predictive effect and clinical benefit, respectively. CONCLUSION: The nomogram constructed based on dual-energy CT parameters and inflammatory prognostic indicators has high clinical value in predicting CLNM in PTC patients.


Assuntos
Metástase Linfática , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Tomografia Computadorizada por Raios X , Humanos , Masculino , Feminino , Metástase Linfática/diagnóstico por imagem , Metástase Linfática/patologia , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/diagnóstico por imagem , Câncer Papilífero da Tireoide/cirurgia , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Adulto , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nomogramas , Pescoço/diagnóstico por imagem , Pescoço/patologia , Linfonodos/patologia , Linfonodos/diagnóstico por imagem , Prognóstico , Idoso , Inflamação/patologia , Inflamação/diagnóstico por imagem
5.
Eur Radiol ; 34(1): 16-25, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37526667

RESUMO

OBJECTIVES: To predict the probability of occult lymph node metastasis (OLNM) in the central cervical by analyzing the dual-energy computed tomography (DECT) parameters derived from papillary thyroid carcinoma (PTC). METHODS: Data were retrospectively collected from patients with pathologically confirmed PTC who underwent arterial and venous phases of enhanced DECT with concurrent central neck lymph node dissection (CLND). Three clinical features, three shape-related features, and twenty-six DECT-derived parameters were measured. The univariate and multivariate analyses were applied to select the relevant parameters and develop the nomogram. RESULTS: A total 140 cases with negative diagnosis of cervical central lymph node metastases by preoperative evaluation were included, among which 88 patients with metastasis (OLNM +) and 52 patients without metastasis (OLNM -) were finally confirmed by pathology. (1) Anteroposterior/transverse diameter ratio (A/T) derived from the PTC focus had significant difference between the OLNM + and OLNM - groups (p < 0.05). (2) In the arterial phase, iodine concentration (ICarterial), normalized iodine concentration (NICarterial), effective atomic number (Zeff-arterial), electron density (EDarterial), and slope of energy curve (karterial) from PTC focus showed significant difference (all p < 0.05) between the two groups. In the venous phase, only the CT value under the 40 keV (HU40keVvenous) had differences (p < 0.05). (3) The nomogram was produced to predict the probability of OLNM, and the AUC, sensitivity, and specificity in the training and test cohort were 0.830, 75.0%, 76.9%, and 0.829, 65.9%, 84.6%, respectively. CONCLUSIONS: DECT parameters combined with shape-related feature derived from PTC might be used as predictors of OLNM in the central neck. CLINICAL RELEVANCE STATEMENT: Preoperative imaging evaluation combining shape-related features and dual-energy CT parameters could serve as a reference to discern occult lymph node metastasis in central neck during the surgically planning of papillary thyroid carcinoma. KEY POINTS: • Papillary thyroid carcinoma (PTC) patients may have occult lymph node metastasis (OLNM) in the central neck, which is extremely difficult to find by preoperative imaging examination. • Dual-energy CT quantitative evaluation has higher accuracy than conventional CT and can predicting OLNM in the central neck of PTC. • Dual-energy CT quantitative parameters and morphology of PTC can serve as a useful tool in predicting OLNM in the central neck, and as a guide for personalized treatment.


Assuntos
Carcinoma Papilar , Iodo , Neoplasias da Glândula Tireoide , Humanos , Câncer Papilífero da Tireoide/diagnóstico por imagem , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Metástase Linfática/diagnóstico por imagem , Metástase Linfática/patologia , Estudos Retrospectivos , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/patologia , Linfonodos/diagnóstico por imagem , Linfonodos/patologia , Tomografia Computadorizada por Raios X , Pescoço/patologia
6.
Epidemiol Infect ; 152: e28, 2024 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-38287476

RESUMO

Lymph node tuberculosis is particularly common in regions with a high tuberculosis burden, and it has a great risk of rupture. This study aims to investigate the utility of ultrasound multimodal imaging in predicting the rupture of cervical tuberculous lymphadenitis (CTL). 128 patients with unruptured CTL confirmed by pathology or laboratory tests were included. Various ultrasonic image features, including long-to-short-axis ratio (L/S), margin, internal echotexture, coarse calcification, Color Doppler Flow Imaging (CDFI), perinodal echogenicity, elastography score, and non-enhanced area proportion in contrast-enhanced ultrasound (CEUS), were analyzed to determine their predictive value for CTL rupture within a one-year follow-up period. As a result, L/S (P < 0.001), margin (P < 0.001), internal echotexture (P < 0.001), coarse calcification (P < 0.001), perinodal echogenicity (P < 0.001), and the area of non-enhancement in CEUS (P < 0.001) were identified as significant imaging features for predicting CTL rupture. The prognostic prediction showed a sensitivity of 89.29%, specificity of 100%, accuracy of 95.31%, respectively. Imaging findings such as L/S < 2, unclear margin, heterogeneous internal echotexture, perinodal echogenicity changed, and non-enhancement area in CEUS > 1/2, are indicative of CTL rupture, while coarse calcification in the lymph nodes is associated with a favorable prognosis.


Assuntos
Pescoço , Tuberculose dos Linfonodos , Humanos , Pescoço/diagnóstico por imagem , Pescoço/patologia , Tuberculose dos Linfonodos/diagnóstico por imagem , Tuberculose dos Linfonodos/patologia , Linfonodos/diagnóstico por imagem , Linfonodos/patologia , Ultrassonografia/métodos , Imagem Multimodal
7.
BMC Endocr Disord ; 24(1): 87, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38867258

RESUMO

BACKGROUND: Anaplastic thyroid carcinoma(ATC) is a rare pathological type of thyroid malignancy. Primary squamous cell carcinoma of thyroid(PSCCT) is now considered as a subtype of ATC, hereinafter referred to as ATC-SCC subtype. ATC-SCC subtype combined with follicular thyroid carcinoma is exceedingly rare, with fewer cases reported. The ATC-SCC subtype is a highly invasive tumor with a poor prognosis for patients after metastasis occurs, and current treatment of this type of tumor is tricky. CASE PRESENTATION: A 68-year-old female patient presented with a gradually growing swelling of right cervical region. Comprehensive auxiliary examinations and postoperative pathology confirmed the diagnosis of ATC-SCC subtype with follicular thyroid carcinoma, and the metastasis squamous cell carcinoma of the right cervical lymph nodes originates from ATC-SCC subtype. The patient received chemoradiotherapy postoperative. However, the residual cervical lymph nodes metastasis with squamous cell carcinoma still infiltrated surrounding structures in the neck extensively after palliative resection. The patient died 7 months after surgery. CONCLUSION: Our case highlights that cervical lymph node metastasis may be a significant factor in the poor prognosis of ATC-SCC subtype. This malignancy should be detected and treated early.


Assuntos
Adenocarcinoma Folicular , Metástase Linfática , Carcinoma Anaplásico da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Feminino , Idoso , Neoplasias da Glândula Tireoide/patologia , Adenocarcinoma Folicular/patologia , Adenocarcinoma Folicular/secundário , Carcinoma Anaplásico da Tireoide/patologia , Carcinoma Anaplásico da Tireoide/diagnóstico , Carcinoma Anaplásico da Tireoide/terapia , Prognóstico , Evolução Fatal , Pescoço/patologia , Linfonodos/patologia , Carcinoma de Células Escamosas/secundário , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/diagnóstico
8.
J Pediatr Hematol Oncol ; 46(4): 188-196, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38573005

RESUMO

BACKGROUND/AIM: To present MRI features of neck lymph nodes in benign and malignant conditions in the pediatric population. MATERIALS AND METHODS: MRIs of the neck of 51 patients 1 to 18 years old (40 boys, 11 girls [10.08±4.73]) with lymph node biopsy were retrospectively analyzed. Those were grouped as benign including reactive (27 [52.9%]) and lymphadenitis (11 [21.6%]), and malignant (13 [25.5%]). The groups were evaluated multiparametrically in terms of quantitative and qualitative variables. RESULTS: The long axis, short axis, area, and apparent diffusion coefficient (ADC) values of the largest lymph node were 21 (17 to 24) mm, 14 (12 to 18) mm, 228.60 (144.79 to 351.82) mm 2 , 2531 (2457 to 2714) mm 2 /s for reactive, 24 (19 to 27) mm, 15 (11 to 20) mm, 271.80 (231.43 to 412.20) mm 2 , 2534 (2425 to 2594) mm 2 /s for lymphadenitis, 27 (23.50 to 31.50) mm, 20 (15 to 22) mm, 377.08 (260.47 to 530.94) mm 2 , 2337 (2254 to 2466) mm 2 /s for malignant, respectively. Statistical analysis of our data suggests that the following parameters are associated with a higher likelihood of malignancy: long axis >22 mm, short axis >16 mm, area >319 cm 2 , ADC value <2367 mm 2 /s, and supraclavicular location. Perinodal and nodal heterogeneity, posterior cervical triangle location are common in lymphadenitis ( P <0.001). Reactive lymph nodes are distributed symmetrically in both neck halves ( P <0.001). CONCLUSION: In the MRI-based approach to lymph nodes, not only long axis, short axis, surface area, and ADC, but also location, distribution, perinodal, and nodal heterogeneity should be used.


Assuntos
Linfonodos , Imageamento por Ressonância Magnética , Pescoço , Humanos , Feminino , Masculino , Criança , Linfonodos/patologia , Linfonodos/diagnóstico por imagem , Adolescente , Pré-Escolar , Pescoço/diagnóstico por imagem , Pescoço/patologia , Lactente , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Linfadenite/diagnóstico por imagem , Linfadenite/patologia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/patologia
9.
J Comput Assist Tomogr ; 48(1): 129-136, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37478483

RESUMO

OBJECTIVES: The aims of the study were to determine the predictive imaging findings of extranodal extension (ENE) in metastatic cervical lymph nodes of head and neck squamous cell carcinoma and to investigate the interobserver agreement among radiologists with different experience levels. MATERIALS AND METHODS: Patients with cervical lymph node dissection and who had metastatic lymph nodes and preoperative imaging were included. Three radiologists evaluated nodal necrosis, irregular contour, gross invasion, and perinodal fat stranding. They also noted their overall impression regarding the presence of the ENE. Sensitivity, specificity, odds ratios based on logistic regression, and interobserver agreement of ENE status were calculated. RESULTS: Of 106 lymph nodes (that met inclusion criteria), 31 had radiologically determined ENE. On pathologic examination, 22 of 31 nodes were positive for ENE. The increasing number of metastatic lymph nodes was associated with the presence of the ENE ( P = 0.010). Irregular contour had the highest sensitivity (78.6%) and gross invasion had the highest specificity (96%) for the determination of the ENE. The radiologists' impression regarding the presence of the pathlogical ENE had 39.3% sensitivity and 82% specificity. Metastatic lymph nodes with a perinodal fat stranding and with the longest diameter of greater than 2 cm were found to be strong predictors of the ENE. The gross invasion demonstrated the highest κ value (0.731) among the evaluated imaging criteria. CONCLUSIONS: In the assessment of ENE, the gross invasion had the highest specificity among imaging features and showed the highest interobserver agreement. Perinodal fat stranding and the longest diameter of greater than 2 cm in a metastatic lymph node were the best predictors of the ENE.


Assuntos
Neoplasias de Cabeça e Pescoço , Neoplasias do Colo do Útero , Feminino , Humanos , Carcinoma de Células Escamosas de Cabeça e Pescoço/diagnóstico por imagem , Extensão Extranodal/patologia , Estudos Retrospectivos , Pescoço/diagnóstico por imagem , Pescoço/patologia , Linfonodos/diagnóstico por imagem , Linfonodos/patologia , Neoplasias do Colo do Útero/patologia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Prognóstico , Estadiamento de Neoplasias
10.
BMC Pediatr ; 24(1): 66, 2024 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-38245681

RESUMO

BACKGROUND: Langerhans cell histiocytosis affecting the thyroid commonly presents with nonspecific clinical and radiological manifestations. Thyroid Langerhans cell histiocytosis is typically characterized by non-enhancing hypodense lesions with an enlarged thyroid on computed tomography medical images. Thyroid involvement in LCH is uncommon and typically encountered in adults, as is salivary gland involvement. Therefore, we present a unique pediatric case featuring simultaneous salivary and thyroid involvement in LCH. CASE PRESENTATION: A 3-year-old boy with complaints of an anterior neck mass persisting for 1 to 2 months, accompanied by mild pain, dysphagia, and hoarseness. A physical examination revealed a 2.5 cm firm and tender mass in the left anterior neck. Laboratory examinations revealed normal thyroid function test levels. Ultrasonography revealed multiple heterogeneous hypoechoic nodules with unclear and irregular margins in both lobes of the thyroid. Contrast-enhanced neck computed tomography revealed an enlarged thyroid gland and bilateral submandibular glands with non-enhancing hypointense nodular lesions, and multiple confluent thin-walled small (< 1.5 cm) cysts scattered bilaterally in the lungs. Subsequently, a left thyroid excisional biopsy was performed, leading to a histopathological diagnosis of LCH. Immunohistochemical analysis of the specimen demonstrated diffuse positivity for S-100, CD1a, and Langerin and focal positivity for CD68. The patient received standard therapy with vinblastine and steroid, and showed disease regression during regular follow-up of neck ultrasonography. CONCLUSIONS: Involvement of the thyroid and submandibular gland as initial diagnosis of Langerhans cell histiocytosis is extremely rare. It is important to investigate the involvement of affected systems. A comprehensive survey and biopsy are required to establish a definitive diagnosis.


Assuntos
Histiocitose de Células de Langerhans , Tireoidite , Pré-Escolar , Humanos , Masculino , Biópsia , Histiocitose de Células de Langerhans/diagnóstico por imagem , Histiocitose de Células de Langerhans/complicações , Pescoço/patologia , Tireoidite/complicações
11.
J Ultrasound Med ; 43(3): 587-598, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38130062

RESUMO

OBJECTIVES: Cervical chondrocutaneous branchial remnants (CCBRs) and dermal lesions, such as epidermoid cysts or brachial anomalies, including lateral cervical cysts/sinuses or dermal sinuses of anterior chest lesions, are usually located at the lower neck at the anterior or posterior border of the sternocleidomastoid muscle (SCM). We aimed to demonstrate the usefulness of ultrasonography in the differential diagnosis and evaluation of CCBRs. METHODS: We evaluated 22 lesions of 20 pediatric patients, classified into CCBR and dermal lesion groups. We used Fisher's exact test to evaluate differences between these groups in terms of lesion shape (low-echoic mass- or tubular-like), whether the lesion was adjacent to/in contact with the SCM or not, and the presence or absence of a concave SCM caused by the lesion. RESULTS: Of the 22 lesions, 8 were CCBRs, and 14 were dermal lesions. We found a significant difference in the presence/absence of adjacency to or contact with the SCM (presence/absence of adjacency to or contact with the SCM in CCBRs vs that in dermal lesions: 6/2 vs 1/13, P = .002) and presence/absence of lesion-induced concavity of the SCM (presence/absence of lesion-induced concavity of the SCM in CCBRs vs that in dermal lesions: 3/5 vs 0/14, P = .036). The lesion shape (low-echoic mass-like/tubular-like lesions) did not significantly differ between the two study groups (low-echoic mass-like/tubular-like lesions in CCBRs vs that in dermal lesions: 5/3 vs 11/6, P = .624). CONCLUSIONS: CCBRs have a strong association with the SCM. These sonographic findings may be useful in the differential diagnosis of dermal cervical lesions.


Assuntos
Cartilagem , Cisto Epidérmico , Criança , Humanos , Projetos Piloto , Cartilagem/anormalidades , Cartilagem/patologia , Região Branquial/anormalidades , Região Branquial/patologia , Pescoço/patologia
12.
World J Surg Oncol ; 22(1): 162, 2024 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-38907249

RESUMO

OBJECTIVE: The aim of this study is to investigate the risk factors for lateral cervical lymph node metastasis in papillary thyroid carcinoma (PTC). METHODS: Clinicopathological data (age, gender, Hashimoto's thyroiditis, preoperative circulating tumor cells (CTCs), multifocal, maximum lesion diameter, invaded capsule, T stage, and lymph node metastasis) of 830 PTC patients diagnosed and treated in Meizhou People's Hospital from June 2021 to April 2023 were collected. The related factors of lateral cervical lymph node metastasis were analyzed. RESULTS: There were 334 (40.2%), and 103 (12.4%) PTC patients with central lymph node metastasis, and lateral cervical lymph node metastasis, respectively. Compared with patients without lateral cervical lymph node metastasis, PTC patients with lateral cervical lymph node metastasis had a higher proportion of multifocal, maximum lesion diameter > 1 cm, invaded capsule, T3-T4 stage. Regression logistic analysis showed that male (odds ratio (OR): 2.196, 95% confidence interval (CI): 1.279-3.769, p = 0.004), age < 55 years old (OR: 2.057, 95% CI: 1.062-3.988, p = 0.033), multifocal (OR: 2.759, 95% CI: 1.708-4.458, p < 0.001), maximum lesion diameter > 1 cm (OR: 5.408, 95% CI: 3.233-9.046, p < 0.001), T3-T4 stage (OR: 2.396, 95% CI: 1.241-4.626, p = 0.009), and invaded capsule (OR: 2.051, 95% CI: 1.208-3.480, p = 0.008) were associated with lateral cervical lymph node metastasis. CONCLUSIONS: Male, age < 55 years old, multifocal, maximum lesion diameter > 1 cm, T3-T4 stage, and invaded capsule were independent risk factors for lateral cervical lymph node metastasis in PTC.


Assuntos
Metástase Linfática , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Adulto , Prognóstico , Seguimentos , Linfonodos/patologia , Linfonodos/cirurgia , Pescoço/patologia , Idoso , Tireoidectomia , Estadiamento de Neoplasias , Adulto Jovem
13.
Cytopathology ; 35(3): 344-349, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38351503

RESUMO

Cytological specimens play a pivotal role in head and neck nodule/mass work up and diagnoses. The specimens´ importance has grown with the onset of personalized medicine and the routine use of molecular markers in the diagnostic work up. The Updates in Head and Neck Cytopathology Short Course ran during the 35th European Congress of Pathology held in Dublin, Ireland, in 2023 and brought together experts in cytopathology, pathology, and related fields to share their expertise and experience in the field of head and neck cytopathology and its future directions. Topics such as a one-stop clinic, the Milan System for Reporting Salivary Gland Cytopathology, next generation sequencing, and human papilloma virus detection in the head and neck area were covered during the short course. These topics are briefly summarized in the present review.


Assuntos
Neoplasias das Glândulas Salivares , Glândulas Salivares , Humanos , Biópsia por Agulha Fina , Glândulas Salivares/patologia , Cabeça/patologia , Pescoço/patologia , Irlanda , Neoplasias das Glândulas Salivares/patologia , Estudos Retrospectivos
14.
Proc Natl Acad Sci U S A ; 118(21)2021 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-34011608

RESUMO

Loss-of-function mutations in chromatin remodeler gene ARID1A are a cause of Coffin-Siris syndrome, a developmental disorder characterized by dysgenesis of corpus callosum. Here, we characterize Arid1a function during cortical development and find unexpectedly selective roles for Arid1a in subplate neurons (SPNs). SPNs, strategically positioned at the interface of cortical gray and white matter, orchestrate multiple developmental processes indispensable for neural circuit wiring. We find that pancortical deletion of Arid1a leads to extensive mistargeting of intracortical axons and agenesis of corpus callosum. Sparse Arid1a deletion, however, does not autonomously misroute callosal axons, implicating noncell-autonomous Arid1a functions in axon guidance. Supporting this possibility, the ascending axons of thalamocortical neurons, which are not autonomously affected by cortical Arid1a deletion, are also disrupted in their pathfinding into cortex and innervation of whisker barrels. Coincident with these miswiring phenotypes, which are reminiscent of subplate ablation, we unbiasedly find a selective loss of SPN gene expression following Arid1a deletion. In addition, multiple characteristics of SPNs crucial to their wiring functions, including subplate organization, subplate axon-thalamocortical axon cofasciculation ("handshake"), and extracellular matrix, are severely disrupted. To empirically test Arid1a sufficiency in subplate, we generate a cortical plate deletion of Arid1a that spares SPNs. In this model, subplate Arid1a expression is sufficient for subplate organization, subplate axon-thalamocortical axon cofasciculation, and subplate extracellular matrix. Consistent with these wiring functions, subplate Arid1a sufficiently enables normal callosum formation, thalamocortical axon targeting, and whisker barrel development. Thus, Arid1a is a multifunctional regulator of subplate-dependent guidance mechanisms essential to cortical circuit wiring.


Assuntos
Córtex Cerebral/metabolismo , Cromatina/química , Corpo Caloso/metabolismo , Proteínas de Ligação a DNA/genética , Mutação com Perda de Função , Tálamo/metabolismo , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/metabolismo , Anormalidades Múltiplas/patologia , Animais , Córtex Cerebral/patologia , Cromatina/metabolismo , Conectoma , Corpo Caloso/patologia , Proteínas de Ligação a DNA/deficiência , Face/anormalidades , Face/patologia , Deleção de Genes , Regulação da Expressão Gênica , Substância Cinzenta/metabolismo , Substância Cinzenta/patologia , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/metabolismo , Deformidades Congênitas da Mão/patologia , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/metabolismo , Deficiência Intelectual/patologia , Camundongos , Camundongos Transgênicos , Micrognatismo/genética , Micrognatismo/metabolismo , Micrognatismo/patologia , Pescoço/anormalidades , Pescoço/patologia , Vias Neurais/metabolismo , Vias Neurais/patologia , Neurônios/metabolismo , Neurônios/patologia , Tálamo/patologia , Fatores de Transcrição/deficiência , Vibrissas/metabolismo , Vibrissas/patologia , Substância Branca/metabolismo , Substância Branca/patologia
15.
Am J Otolaryngol ; 45(4): 104265, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38703608

RESUMO

OBJECTIVE: The characteristics of cervical lymph node involvement in papillary thyroid carcinoma (PTC) patients with different degree of capsular invasion remains unclear, especially for those with mono-focal lesion who have traditionally been considered as low neck metastasis risk subgroup. STUDY DESIGN: Retrospective cohort study. SETTING: Three academic teaching hospital. METHODS: A total of 1276 mono-focal PTC patients were retrospectively analyzed. RESULTS: Mono-focal PTC patients with extrathyroidal extension (ETE) showed significantly higher central lymph node metastasis (CLNM) rate than those without. For patients with no gross ETE (gETE), those with minimal ETE (mETE) also showed more commonly CLNM than those with encapsulated lesions. However, the lateral lymph node metastasis (LLNM) rates of patients with mETE and encapsulated tumors were comparable, both lower than that of patients with gETE. Age ≥40, male, and MTD ≥0.5 cm were identified as independent risk factors of CLNM for those with encapsulated tumors and were enrolled for creating a prediction model. In terms of LLNM, only MTD ≥1.0 cm was confirmed as independent risk factors of LLNM for patients with positive gETE. CONCLUSIONS: The presence and degree of ETE may have different effects on the risk of central and lateral lymph node metastasis. gETE demonstrates a strong correlation with both CLNM and LLNM while mETE is only associated with CLNM in mono-focal PTC patients. A comprehensive model is established in the aim of predicting neck involvement according to the capsular status and the corresponding stratified risk factors, which may aid clinical decision-making for the management of neck regions.


Assuntos
Linfonodos , Metástase Linfática , Pescoço , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Masculino , Feminino , Neoplasias da Glândula Tireoide/patologia , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/secundário , Estudos Retrospectivos , Pessoa de Meia-Idade , Adulto , Pescoço/patologia , Linfonodos/patologia , Fatores de Risco , Invasividade Neoplásica , Idoso , Fatores Etários , Estudos de Coortes
16.
Eur Arch Otorhinolaryngol ; 281(1): 359-367, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37578497

RESUMO

INTRODUCTION: We aimed to develop a diagnostic deep learning model using contrast-enhanced CT images and to investigate whether cervical lymphadenopathies can be diagnosed with these deep learning methods without radiologist interpretations and histopathological examinations. MATERIAL METHOD: A total of 400 patients who underwent surgery for lymphadenopathy in the neck between 2010 and 2022 were retrospectively analyzed. They were examined in four groups of 100 patients: the granulomatous diseases group, the lymphoma group, the squamous cell tumor group, and the reactive hyperplasia group. The diagnoses of the patients were confirmed histopathologically. Two CT images from all the patients in each group were used in the study. The CT images were classified using ResNet50, NASNetMobile, and DenseNet121 architecture input. RESULTS: The classification accuracies obtained with ResNet50, DenseNet121, and NASNetMobile were 92.5%, 90.62, and 87.5, respectively. CONCLUSION: Deep learning is a useful diagnostic tool in diagnosing cervical lymphadenopathy. In the near future, many diseases could be diagnosed with deep learning models without radiologist interpretations and invasive examinations such as histopathological examinations. However, further studies with much larger case series are needed to develop accurate deep-learning models.


Assuntos
Aprendizado Profundo , Linfadenopatia , Humanos , Diagnóstico Diferencial , Estudos Retrospectivos , Linfadenopatia/diagnóstico por imagem , Linfadenopatia/patologia , Pescoço/patologia
17.
Eur Arch Otorhinolaryngol ; 281(2): 925-934, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37917163

RESUMO

PURPOSE: The objective of our study was to evaluate the ability of preoperative MRI tractography to visualize and predict the path of the facial nerve with respect to an intra-parotid mass. METHODS: We performed an observational bicentric study from June 2019 to August 2020. All patients older than 18 years old, treated for a parotid mass with surgical indication, without MRI contraindication and who agreed to participate in the study were enrolled prospectively. All patients underwent a cervico-facial MRI with tractographic analysis. Postprocessed tractography images of the intra-parotid facial nerve were analyzed by two expert radiologists in head and neck imaging. The intraoperative anatomical description of the facial nerve path and its relationship to the mass was performed by the surgeon during the operation, with no visibility on MRI examination results. A statistical study allowed for the description of the data collected as well as the measurement of inter-observer agreement and agreement between tractography and surgery using kappa coefficients. RESULTS: Fifty-two patients were included. The facial nerve trunk and its first two divisional branches were visualized via tractography in 93.5% of cases (n = 43). The upper distal branches were visualized in 51.1% of cases (n = 23), and the lower branches were visualized in 73.3% of cases (n = 33). Agreement with the location described per-operatively was on average 82.9% for the trunk, 74.15% for the temporal branch, and 75.21% for the cervico-facial branch. CONCLUSION: Fiber tractography analysis by MRI of the intra-parotid facial nerve appears to be a good test for predicting the path of the nerve over the parotid mass and could be an additional tool to guide the surgeon in the operative procedure.


Assuntos
Nervo Facial , Neoplasias Parotídeas , Adolescente , Humanos , Nervo Facial/cirurgia , Imageamento por Ressonância Magnética/métodos , Pescoço/patologia , Glândula Parótida/diagnóstico por imagem , Glândula Parótida/cirurgia , Glândula Parótida/inervação , Neoplasias Parotídeas/diagnóstico por imagem , Neoplasias Parotídeas/cirurgia , Neoplasias Parotídeas/patologia
18.
J Craniofac Surg ; 35(4): e380-e385, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38651860

RESUMO

OBJECTIVE: The neck region is a common site for solitary cystic neck mass (SCNM) of various etiologies, including congenital, inflammatory, and neoplastic. In adults, the primary focus is excluding malignancy. The objective of this study was to retrospectively analyze the accuracy of available diagnostic technologies for the differentiation of benign and malignant SCNM in adult patients. The study aimed to develop new clinical practice guidelines for evaluating and managing SCNM. METHODS: The primary predictive variables were the diagnostic utilities of fine-needle aspiration cytology (FNAC), ultrasound (U/S), multislice computed tomography, and magnetic resonance imaging. The study's endpoint was the overall diagnostic accuracy in differentiating between benign and malignant SCNM. The final diagnosis was based on histopathology. RESULTS: The study included 79 adult patients: 55 (69.62%) male and 24 (30.38%) female ( P <0.05). The mean age at presentation was 42.1 years (range: 18-84 years). Solitary cystic neck mass was distributed in the anterior neck region in 30 (37.97%) patients and the posterolateral neck regions in 49 (62.03%) patients ( P <0.05). The posterolateral neck regions had a significantly higher rate of malignant SCNM than the anterior neck region [19/49 (38.78%) versus 1/30 (3.33%)] ( P <0.05). There was no statistically significant difference between the U/S+FNAC and U/S+FNAC+multislice computed tomography and/or magnetic resonance imaging groups in differentiating benign and malignant SCNM (40/42 versus 36/37, P >0.05). "Violated neck" was recorded in 2 cases. CONCLUSION: A systematic investigation protocol should be applied to evaluate adult patients with SCNM.


Assuntos
Neoplasias de Cabeça e Pescoço , Imageamento por Ressonância Magnética , Ultrassonografia , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/terapia , Idoso , Estudos Retrospectivos , Idoso de 80 Anos ou mais , Adolescente , Biópsia por Agulha Fina , Diagnóstico Diferencial , Pescoço/diagnóstico por imagem , Pescoço/patologia , Guias de Prática Clínica como Assunto , Tomografia Computadorizada Multidetectores , Adulto Jovem , Cistos/diagnóstico por imagem , Cistos/patologia
19.
BMC Oral Health ; 24(1): 590, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38773438

RESUMO

BACKGROUND: Lymph node (LN) status is an important prognostic factor for parotid gland cancer (PGC). This study aimed to analyze the impact of extranodal extension (ENE) of intraparotid LN and LN metastasis burden on survival in PGC. METHODS: Patients with surgically treated PGC and at least one metastatic cervical LN were retrospectively enrolled. Primary outcome variables were distant metastasis-free survival (DMFS), disease-specific survival (DSS), and overall survival (OS). The impact of ENE and LN metastasis burden was assessed using the Cox model. RESULTS: A total of 292 patients were included. ENE in cervical or intraparotid LN was not associated with DMFS, DSS, or OS. Intraparotid LN metastasis had a significant impact on prognosis, and the presence of only one metastatic intraparotid LN offered an approximately 1.5-fold risk of distant metastasis. Prognostic models based on the number of positive LNs (1 vs. 2-3 vs. 4+) were superior to the AJCC N stage in terms of DMFS, DSS, and OS. CONCLUSIONS: ENE of cervical or intraparotid LN has a limited effect on the prognosis of PGC, and the number of positive LNs is better than the AJCC N stage in LN status evaluation.


Assuntos
Linfonodos , Metástase Linfática , Estadiamento de Neoplasias , Neoplasias Parotídeas , Humanos , Neoplasias Parotídeas/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Metástase Linfática/patologia , Estudos Retrospectivos , Linfonodos/patologia , Idoso , Prognóstico , Adulto , Extensão Extranodal/patologia , Taxa de Sobrevida , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Pescoço/patologia
20.
Fetal Pediatr Pathol ; 43(1): 79-81, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37800446

RESUMO

Background: Midline developmental neck lesions primarily consist of thyroglossal duct remnants. Their recurrence is uncommon following thorough resection, which includes hyoid removal (the Sistrunk procedure). Case report: A 3-year-old girl presented with mucoid secretion drainage and swelling in the anterior mid-neck region, clinically resembling a thyroglossal duct remnant. Following an initial Sistrunk procedure, the lesion recurred, prompting a subsequent resection. Histological analysis revealed a mucocele alongside acinar and mucous ectopic salivary glands. Conclusions: The ectopic salivary gland can manifest along the midline of the neck and may clinically resemble the signs and symptoms of a thyroglossal duct cyst. Importantly, it can exhibit recurrence post-surgery, even following hyoid resection.


Assuntos
Cisto Tireoglosso , Feminino , Humanos , Pré-Escolar , Cisto Tireoglosso/diagnóstico , Cisto Tireoglosso/patologia , Cisto Tireoglosso/cirurgia , Diagnóstico Diferencial , Glândulas Salivares/patologia , Glândula Tireoide/patologia , Glândula Tireoide/cirurgia , Pescoço/patologia
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