The utility of ultrasound-guided tru-cut biopsy in the diagnosis of occult breast carcinoma presenting as ovarian malignancy with multiple metastases: A case of unknown primary

@#This paper documents the utility of ultrasound-guided tru-cut biopsy in the diagnosis and subsequent management of a case of occult breast carcinoma presenting with multiple distant metastases in the absence of a primary breast lesion. She was initially diagnosed as primary ovarian malignancy with metastatic disease and subsequently underwent transvaginal ultrasound-guided tru-cut biopsy of the right ovarian mass. Histologic and immunohistochemical studies were consistent with a metastatic adenocarcinoma of breast origin. The patient underwent chemotherapy for primary breast carcinoma and has responded well.

New strategies for the treatment of carcinoma of unknown primary / 中华肿瘤杂志

Carcinoma of unknown primary (CUP) is a kind of metastatic tumor whose primary origin cannot be identified after adequate examination and evaluation. The main treatment modality of CUP is empiric chemotherapy, and the median overall survival time is less than 1 year. Compared with immunohistochemistry, novel method based on gene expression profiling have improved the sensitivity and specificity of CUP detection, but its guiding value for treatment is still controversial. The approval of immune checkpoint inhibitors and pan-cancer antitumor agents has improved the prognosis of patients with CUP, and targeted therapy and immunotherapy based on specific molecular characteristics are the main directions of future research. Given the high heterogeneity and unique clinicopathological characteristics of CUP, "basket trial" is more suitable for clinical trial design in CUP.

Metástasis cervical con primario desconocido, cambios en los paradigmas: revisión sobre el enfrentamiento clínico, estudio y tratamiento / Cervical metastases from unknown primary tumor, paradigm changes: review on clinical confrontation, study and treatment

Resumen En adultos, una masa cervical detectada mediante examen físico o un estudio de imagen puede ser la única manifestación de un cáncer proveniente de cabeza y cuello. Un retraso en el diagnóstico repercute en el pronóstico de la enfermedad, por lo que debe haber un alto índice de sospecha. Las metástasis cervicales con primario desconocido (MCCPD) son tumores metastásicos en los que el estudio diagnóstico no logró identificar el sitio primario del cáncer, con una histología predominantemente de tipo escamosa. Según algunos estudios, el origen más frecuente resultó ser la orofaringe, incluyendo amígdala palatina y base de lengua. Factores de riesgo conocidos son edades avanzadas, consumo de tabaco y de alcohol. Actualmente, la infección por el virus del papiloma humano (VPH) está teniendo un rol cada vez más importante como factor de riesgo, formando parte de entre 20%-25% de los cánceres de cabeza y cuello. Al enfrentarse a un paciente con masa cervical es importante realizar una completa anamnesis y examen físico acucioso para detectar cualquier elemento sugerente de malignidad. Se debe complementar con nasofibroscopía para visualizar estructuras que no alcanzan a evaluarse en el examen habitual. También se puede orientar la búsqueda del primario desconocido en base a los patrones de drenaje linfático. Dentro del estudio complementario se puede comenzar con una tomografía computada (TC) y se puede considerar también el ultrasonido o un PET/TC. Si con esto aún no se logra definir el primario, continuar con una punción aspirativa con aguja fina (PAAF), luego biopsia core que consiste en tomar una muestra del centro de la lesión guiada por ecografía, si fuese necesario, incluyendo inmunohistoquímica para VPH; ambos estudios histológicos son preferibles en vez de una biopsia abierta debido al menor riesgo de diseminación y complicaciones. El siguiente paso incluye estudio endoscópico y biopsias bajo anestesia. El tratamiento de los pacientes con MCCPD, va a depender de factores relacionados con el estadio de la enfermedad: desde cirugía o radioterapia (RT) únicas, cirugía más RT, y en algunos casos quimioterapia. Se recomienda seguimiento clínico frecuente durante los primeros años y con imágenes dentro de los 6 primeros meses postratamiento.

Abstract In adults, a cervical mass detected by physical examination or an imaging study may be the only manifestation of cancer from the head and neck. A delay in the diagnosis affects the prognosis of the disease, so there must be a high index of suspicion. Cervical metastases from unknown primary tumor (CUP) are metastatic tumors in which the diagnostic study failed to identify the primary site of cancer, with predominantly squamous histology. According to some studies, the most frequent origin was the oropharynx, including palatine tonsil and tongue base. Known risk factors are advanced ages, tobacco and alcohol consumption. Currently, human papilloma virus (HPV) infection is playing an increasingly important role as a risk factor, being the cause of between 20-25% of cancers of the head and neck. When confronting a patient with cervical mass it is important to carry out a complete anamnesis and a thorough physical examination to detect any element suggestive of malignancy. Physical examination could be complemented with a flexible nasal endoscopic to evaluate structures that can not be evaluated in the habitual examination. The search for the unknown primary can also be oriented based on lymphatic drainage patterns. Within the complementary evaluations, one can start with a study of images such as computed tomography (CT) or magnetic resonance imaging (MRI) with contrast, and also could consider ultrasound or PET/CT. If the primary can not be defined yet, fine needle aspiration (FNAP) can be the next choice and then a core biopsy that consisting of taking a sample from the center of the ultrasound-guided lesion, if necessary, including immunohistochemistry for HPV; both histological studies are preferable to an open biopsy because of the lower risk of complications. The next step searching for the primary includes endoscopic study and biopsies under anesthesia. Regarding to the management of patients with CUP, it will depend on factors related to the stage of the disease: from surgery or radiotherapy (RT) only, surgery and RT, and in some cases chemotherapy. Frequent clinical follow-up is recommended during the first years and images within the first 6 months after treatment.

The utility of ultrasound-guided tru-cut biopsy in the diagnosis of Occult Breast Carcinoma presenting as Ovarian Malignancy with Multiple Metastases: A case of unknown primary

@#This paper documents the utility of ultrasound-guided tru-cut biopsy in the diagnosis and subsequent management of a case of occult breast carcinoma presenting with multiple distant metastases in the absence of a primary breast lesion. She was initially diagnosed as primary ovarian malignancy with metastatic disease and subsequently underwent transvaginal ultrasound-guided tru-cut biopsy of the right ovarian mass. Histologic and immunohistochemical studies were consistent with a metastatic adenocarcinoma of breast origin. The patient underwent chemotherapy for primary breast carcinoma and has responded well.

Incremental (?) role of positron emission tomography/computed tomography in clinically unknown primary patients with neck metastasis.

OBJECTIVE: To study the incremental role of positron emission tomography (PET)/computed tomography (CT) in the detection of primary site in cases of occult primary with neck metastasis. STUDY DESIGN: A prospective study on 79 consecutive patients. SETTING: A tertiary care otolaryngology and head and neck surgery center. MATERIALS AND METHODS: This prospective study compares the results of PET/CT in 79 patients of occult primary with neck metastasis with that of detailed comprehensive head and neck examination including imaging and panendoscopy. This study also attempts to define the incremental role of PET/CT in patients of occult primary. RESULTS: The sensitivity of PET/CT in identifying the primary tumor was 62.4%, the specificity was 64.7%, the positive predictive value was 69.7% and the negative predictive value was 93%. We had a false positive rate of 33.6% and a false negative rate of 2.6%. CONCLUSION: PET/CT is a sensitive investigation for detection of occult primary. However, it has a low specificity rate and a high false positivity rate. Due to a high false positive rate, multiple biopsies from suspicious sites should be taken rather than solely relying on PET/CT. PET/CT guided fine needle aspiration cytology should be utilized more frequently than we did in this study.

A Case of Small Cell Carcinoma of Unknown Primary

Small cell carcinoma with unknown primary (SCUP) is an uncommon cancer. Histologically, SCUP has been included with extrapulmonary small cell carcinoma (EPSCC) that is defined as a biopsy proven small cell carcinoma in a nonpulmonary primary site. SCUP is usually diagnosed in the lymph nodes, liver, brain, or bone. This tumor is a distinct clinicopathologic entity from small cell carcinoma of the lung. Generally, the clinical course is aggressive and often recurrent, and it has poor prognosis. The identification and differential diagnosis of this tumor can be made with the morphology of neuroendocrine features, immunohistochemistry with chromogranin A, neuron-specific enolase, synaptophysin and CD56, and cytogenetic findings. We treated a case of aggressive SCUP diagnosed by bone marrow biopsy in a 68-year-old man. There was no evidence of tumor in the lung. The patient died one month after without receiving any therapy.

The Efficacy of PEEL Chemotherapy and Identification of Favoranble Subgroups in Patients with Carcinomas of Unknown Primary Origin / 대한암학회지

PURPOSE: In order to evaluate the efficacy of PEFL (cisplatin, etoposide, 5-fluorouracil and leucovorin) chemotherapy and to identify favorable subsets, we conducted a phase II trial of PEFL regimen for patients with carcinomas of unknown primary origin (CUPO). MATERIALS AND METHODS: A total of 38 patients was enrolled in this study between May 1995 and September 1997. CUPO was defined as the presence of metastatic cancer documented in the absence of an identifiable primary site. All entered patients were treated with PEFL combination chemotherapy (cisplatin 20 mg/m(2)/day i.v, days 1-5, etoposide 100 mg/m(2)/day i.v. days 1, 3 & 5, 5-fluorouracil 800 mg/m(2)/day continuous infusion days 1-5, and leucovorin 20 mg/m(2)/day i.v, days 1-5; repeated every 4 weeks). The end points of this study were response and survival. To identify favorable subsets, univariate and multivariate analyses were perfonned. RESULTS: Among 38 patients, 29 had measurable lesions. Three (11%) out of 27 evaluable patients had a complete response and 7 (26%) had a partial response (response rate 37%; 95% confidence interval 19~55%). The median survival of the total 38 enrolled patients was 9.1 (range; 1~21.9+) months. The median progression-free survival of the 27 evaluable patients was 5.3 (range 0~ 16.0) months. Among total 132 cycles of chemotherapy, leukopenia of grade II or more was observed in 15% and thrombocytopenia of grade I in 4%. There was no treatment-related death. Main non-hematologic toxicities were nausea/vomiting (79%), stomatitis (70%), and neurotoxicity (33%). The prognostic factor analyses identified 2 favorable subgroups; One was the patient group whose disease had poorly differentiated histology and presented in cervical lymph node. This group of patients had better response rate than other patients (response rate; 71% vs 25%, p=0.02). The other was the patient group who had normal tumor markers (CEA, CA 125 and CA 19-9). This group of patients had better survival than other patients(median survival; 14.8 vs 8.4 months, p=0.05). CONCLUSION: PEFL chemotherapy seemed to be moderately active and tolerable in patients with CUPO. Among heterogenous patients with CUPO, the subset with cervical lymph node and poorly differentiated histology responded better to the chemotherapy and those with normal tumor markers tended toward longer survival.