Biópsia de Gânglio Sentinela no Melanoma Maligno Cutâneo da Cabeça e Pescoço

Introduction: Sentinel lymph node biopsy (SLNB) is the standard of care for cutaneous melanoma, including head and neck melanoma. The aim of this study was to analyze and characterize SLNB in a population of head and neck melanoma patients. Methods: A unicentric, retrospective study on patients with cutaneous head and neck melanoma who underwent SLNB in the Department of Head and Neck Surgery at the Portuguese Institute of Oncology (IPO) Lisbon between January 2010 and December 2017 was performed. The location of primary melanoma, the identification of SLN, the number of the excised SLN, its lymphatic basin origin and the presence of infraclinic metastasis were analysed. Results:  Ninety-eight patients were eligible to undergo SLNB during the observation period. The most frequent locations of primary melanoma were the scalp (24.5%) and the auricular and periauricular region (23.5%) and the most frequent variants were the superficial spreading melanoma (40.8%) and nodular melanoma (30.6%). SLNB was successfully executed in 78 patients (79.6%). A mean of 3.8 lymph-nodes per patient were excised and in 16.7% SLN were excised in more than one lymphatic basin. The SLN were identified in parotid region (39.8%), level II (29.5%) and level V (18.2%). SLN metastases were detected in 13 patients (16.7%). Conclusion: Surgical approach of head and neck cutaneous melanoma is particularly complex. The redundancy of lymphatic system, the multiple SLN and SLN basins influence the SLNB success and may contribute to high rates of false-negatives with its prognostic implications. All patients should be carefully monitored.  Introdução: A biópsia do gânglio sentinela é uma técnica reconhecida no tratamento do melanoma maligno. O objetivo deste estudo foi caracterizar esta técnica num grupo de doentes com melanoma maligno da cabeça e pescoço tratados num centro de referência. Métodos: Foi realizado um estudo unicêntrico, retrospetivo dos doentes com melanoma maligno cutâneo da cabeça e pescoço submetidos a biópsia do gânglio sentinela no Serviço de Cirurgia de Cabeça e Pescoço do Instituto Português de Oncologia de Lisboa entre janeiro de 2010 e dezembro de 2017. Foi analisada informação relativa à localização do melanoma, identificação do gânglio sentinela, número e localização dos gânglios excisados e presença de metástases. Resultados: 98 doentes foram elegíveis para realização de biópsia do gânglio sentinela durante o período de estudo. As localizações mais frequentes foram o couro cabeludo (24,5%) e a região auricular (23,5%) e as variantes mais frequentes foram o melanoma de extensão superficial (40,8%) e o melanoma nodular (30,6%). Foi identificado gânglio sentinela em 78 doentes. Foram excisados em média 3,8 gânglios/ doente e em 16,7% dos doentes em mais que um nível ganglionar. Os níveis ganglionares envolvidos foram a parótida (39,8%), o nível II (29,5%) e o nível V (18,2%). Foram identificadas metástases no gânglio sentinela em 13 doentes (16,7%). Conclusão: A abordagem cirúrgica do melanoma maligno da cabeça e pescoço é complexa. A vascularização linfática redundante pode originar múltiplos gânglios sentinela e em mais que um nível de drenagem e facilitar a ocorrência de falsos-negativos com implicação prognóstica. Independentemente do resultado do gânglio sentinela todos os doentes devem ter um seguimento cuidadoso

Retrospective Study of 114 Free Flaps for Head and Neck Oncological Reconstruction in a Portuguese Tertiary Cancer Center

Publisher Copyright: Copyright © Ordem dos Médicos 2022Introduction: The Portuguese experience in microsurgical reconstruction of the head and neck after oncological surgery is scantly described. The primary aim of this study was to characterize the use of microvascular reconstruction after head and neck tumor resection in a Portuguese tertiary oncological center Material and Methods: The authors retrospectively evaluated 114 microvascular free flap procedures performed for head and neck reconstruction after oncological resection in a department of Head and Neck Surgery of a Portuguese tertiary oncological center. Patients were operated on from January 2012 to May 2018. Data on patient demographic features, tumour characteristics, perioperative complications, postoperative aesthetic and functional results, survival time and time to recurrence were extracted. Results: Most tumours mandating microsurgical reconstruction were mucosal squamous cell carcinomas (85%) and were located in the oral region (95.6%). Around 45% of the patients had a T4a tumour and 30% a T2 tumour. Cervical metastases were present in 45.6% of the cases. The radial forearm flap and the fibular flap were the most commonly used microsurgical reconstructive options (58% and 41%, respectively). More than 80% of patients had no post-operative complications. Partial necrosis of the flap occurred in 6.1% of patients, while total flap necrosis occurred in 3.5% of cases. Aesthetic and functional results were considered at least satisfactory in all patients in which the flaps survived. Conclusion: Microvascular reconstruction seems like a reliable treatment option in head and neck oncological surgery at our institution.publishersversionpublishe

A Metastização Cervical dos Cancros Cutâneos de Cabeça e Pescoço

Skin cancer is the most frequent cancer, with higher incidence in head and neck, due to chronic sun exposure. The risk of neck metastasis depends on their histology and staging. Melanoma and Merkel carcinoma with N0 neck stage, have a probability of locorregional micrometastases around 20% and from 20-50% respectively. Squamous cell carcinoma has a risk from 5 up to 20%. However, there are several factors, including staging model limitations, that turn assessment of squamous cell carcinoma metastasis cumbersome. The use of sentinel lymph node biopsy and follow-up protocols are also debatable.O cancro cutâneo é a neoplasia mais frequente de todas, com maior incidência na área de cabeça e pescoço, pela fotoexposição crónica. A estratificação do risco metastático linfático regional cervical tende a ser sistematizada de acordo com modelos de estadiamento tumoral, que são tendencialmente aceites no melanoma e carcinoma de células de Merkel, mas pouco consensuais no carcinoma espinocelular. Um dos focos de investigação é o risco de micrometástases em casos de tumores de estádio clínico e imagiológico N0, de que um modo geral varia entre 5% a 20% nos carcinomas espinocelulares, cerca de 20% nos melanomas e de 20 a 50% nos carcinomas de células de Merkel, dependendo de vários fatores de risco. A utilidade do gânglio sentinela e os protocolos de acompanhamento são também matéria de discussão

Clinical manifestations of intermediate allele carriers in Huntington disease

Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis

Clinical and genetic characteristics of late-onset Huntington's disease

Background: The frequency of late-onset Huntington's disease (&gt;59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P &lt;.001). Overall motor and cognitive performance (P &lt;.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P &lt;.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P &lt;.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P &lt;.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients