Neoplasia de sítio primário desconhecido: abordagem diagnóstica e terapêutica / Cancer of onknown primary site: diagnostic and therapeutic approach

Introdução: As neoplasias de sítio primário desconhecido (NSPD) são responsáveis por 3-5% de todas as neoplasias malignas, definidas pela falha de identificação do sítio primário após a investigação diagnóstica. Métodos: Revisão bibliográfica da literatura entre abril e maio de 2018, em artigos de revisão, seminários e artigos originais, em inglês, dos últimos 20 anos. Resultados: A investigação diagnóstica das NSPD envolve uma extensa anamnese, exame físico, exames laboratoriais, exames de imagem, análise anatomopatológica e imuno-histoquímica da lesão metastática. Com base nessa investigação, são classificadas de acordo com critérios clínico-patológicos para melhor conduta terapêutica. Conclusão: As NSPD são um grande desafio para o clínico e oncologista, é imprescindível a investigação adequada dessas neoplasias para o melhor tratamento da doença.

Introduction: Cancer of unknown primary site (CUP) accounts for 3-5% of all malignant neoplasms, which is defined when the anatomical site of origin remains occult after detailed investigations. Methods: Review articles, seminars, and original articles in English for the last 20 years. Results: The diagnostic investigation of CUP involves an extensive anamnesis, physical examination, laboratory exams, imaging, anatomopathological and immunohistochemical analysis of the metastatic lesion. Based on this investigation, the neoplasms are classified according to clinical pathological criteria. Conclusion: CUP can be a challenge for the clinician and medical oncologist, it is essential to adequately investigate these neoplasms in order to define the best treatment approach.

Perfil dos pacientes com diagnóstico de câncer de sítio primário desconhecido em um centro terciário de atenção oncológica / Profile of patients with diagnosis of cancer of unknown primary site in a tertiary cancer center

Introdução: O câncer de sítio primário desconhecido caracteriza-se pela presença de doença metastática ao diagnóstico, sem localização do tumor primário. Objetivo: Conhecer o perfil dos pacientes com diagnóstico de câncer de sítio primário desconhecido em um centro de oncologia terciário. Material e método: Estudo retrospectivo e descritivo no qual foram analisados os prontuários dos pacientes com câncer de sítio primário oculto entre 2002 e 2012. Resultados: Entre os 68 prontuários analisados, observou-se que o adenocarcinoma é o tipo histológico mais frequente (39,71%) seguido pelo carcinoma espinocelular (29,41%). Os sítios de metástases mais recorrentes foram a região cervical (38,23%), fígado (20,58%) e peritônio (16,71%). A imuno-histoquímica foi realizada em 44,12%, os pacientes com acometimento cervical não se beneficiaram da elucidação diagnóstica por este meio, devido à falta de marcadores específi cos para este sítio. Em relação ao tratamento, 60,29% dos pacientes foram submetidos a alguma modalidade terapêutica, sendo a quimioterapia a mais comum, onde a cisplatina foi o antineoplásico mais utilizado de forma isolada (11,76%) e o esquema etoposídeo e cisplatina mais realizado em combinação (7,35%). Conclusão: O estudo está em consonância com os dados da literatura sobre o perfil destes pacientes; entretanto, apesar dos avanços nas técnicas diagnósticas, esta síndrome ainda representa um desafio na prática oncológica.

Introduction: Cancer is characterized by the presence of metastatic disease at diagnosis, without location of the primary tumor. Aim: To know the profile of patients diagnosed with cancer of unknown primary site in a tertiary cancer center. Methods: A retrospective study in which the medical records of patients with cancer of unknown primary site were analyzed between 2002 and 2012. Results: From the 68 charts analyzed adenocarcinoma was found to be the most common histological type (39.71 %), followed by squamous-cell carcinoma (29.41%). The most frequent metastasis sites were the cervical region (38.23%), liver (20.58%) and peritoneum (16.71%). Immunohistochemistry was performed on 44.12%, patients with cervical involvement did not benefi t from such diagnostic clarification due to lack of specific markers for this site. Regarding treatment, 60.29% of patients underwent some form of therapy, the most common being chemotherapy, where cisplatin was the most often antineoplastic used alone (11.76%) and etoposide plus cisplatin the most often used regimen used in combination (7.35%). Conclusion: The study is consistent with published data on the profile of these patients. Despite the advances in diagnostic techniques, however, this syndrome is still a challenge in oncology practice.

Endobronchial Ultrasound-guided Transbronchial Needle Biopsy for Diagnosis of Mediastinal Lymphadenopathy in Patients with Extrathoracic Malignancy

Mediastinal lymphadenopathy associated with extrathoracic malignancy or a metastasis of unknown origin (MUO) requires pathological verification. Surgical exploration or endoscopic ultrasound-guided fine needle aspiration is limited to application. We investigated the effectiveness of endobronchial ultrasound-guided transbronchial needle biopsy (EBUS-TBNA) for evaluating mediastinal lymphadenopathy in patients with an extrathoracic malignancy. We retrospectively analyzed data from 59 patients who underwent EBUS-TBNA with a core biopsy because of a suspected mediastinal metastasis between September 2008 and August 2010. All patients had previously been diagnosed with an extrathoracic malignancy (n = 39, 66.1%) or a suspected MUO without a thoracic lesion (n = 20, 33.9%). A total of 88 lymph nodes was analyzed. EBUS-TBNA findings indicated malignancies in 34 patients (57.6%). The EBUS-TBNA sensitivity and specificity for the detection of mediastinal malignancy in patients with a previous extrathoracic malignancy were 96.3% and 100%, respectively. For MUO patients without a thoracic lesion, the sensitivity and specificity were 61.5% and 100%, respectively. The overall sensitivity and specificity were 81.0% and 100%, respectively (P = 0.053). EBUS-TBNA is a safe and effective modality for evaluating mediastinal lymphadenopathy in patients with a previous extrathoracic malignancy or a MUO without a thoracic lesion. The application of this diagnostic tool is likely to have significant clinical implications.

A case of inguinal lymph node squamous cell carcinoma of unknown origin, accompanied with carcinoma in situ of cervix / 부인종양

Metastatic Cancer of Unknown Primary Site (CUP) accounts for approximately 3-5% of all malignant neoplasms. CUP represents a heterogeneous group of metastatic tumors for which no primary site can be detected following a thorough medical history, careful clinical examination, and extensive diagnostic work-up. Several authors have reported poor prognosis of this malignancy, because there is no consensus on diagnostic guidelines and optimal therapy. Historically, chemotherapy has been the cornerstone of treatment for patients with CUP. We experienced a case of inguinal lymph node squamous cell carcinoma of unknown origin, accompanied with carcinoma in situ of the cervix. We report this case with a brief review of the literatures.