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.
Humans ; Neoplasms, Unknown Primary/genetics* ; Carcinoma/drug therapy* ; Gene Expression Profiling/methods* ; Microarray Analysis ; Prognosis

Retroperitoneal fibrosis (RPF) is a rare disease characterized by marked fibro-inflammatory tissue in the retroperitoneum. Approximately 70% of cases of RPF are idiopathic, while the rest can be secondary to several other causes. The diagnosis is mainly obtained by imaging modalities such as computed tomography (CT). However, histological examination should be considered when the clinical manifestations and imaging studies suggest malignancy. In particular, in malignant diseases with retroperitoneal metastases, abnormal collagen plaques are formed from an exuberant desmoplastic response, which may not be distinguishable from RPF on CT scans. Therefore, even if CT suggests RPF, biopsy is essential to identify malignant disease because it typically results in a fatal prognosis. Here, we report a case of metastatic adenocarcinoma of unknown primary site that developed only in the retroperitoneum and was initially diagnosed as RPF based on CT findings.
Adenocarcinoma ; Biopsy ; Collagen ; Diagnosis ; Neoplasm Metastasis ; Neoplasms, Unknown Primary ; Prognosis ; Rare Diseases ; Retroperitoneal Fibrosis* ; Tomography, X-Ray Computed

BACKGROUND AND OBJECTIVES: It is important to localize the primary site when cervical lymph node metastasis is detected. The purpose of this study was to evaluate the accuracy of diagnostic methods to detect the head and neck primary site in patients with metastatic neck mass. SUBJECTS AND METHOD: Sixty-six patients who had presented with neck mass and were confirmed to have metastatic carcinoma by fine needle aspiration cytology from January 1998 to June 2016 were enrolled. We analyzed the accuracy of diagnostic modalities that inluded physical and endoscopic examination, CT, MRI, PET/CT, and guided biopsy. RESULTS: The mean age of patients was 58.7±12.6 years with the male to female ratio of 55:11. The metastatic lymph nodes were most common at level II (60/66, 90.9%) followed by levels III, IV, I and V. The most common primary site was tonsil (45.5%), followed by the nasopharynx, base of tongue and hypopharynx, and eight patients (12.1%) were diagnosed as metastatic carcinoma of unknown origin. The primary sites were detected by: physical and endoscopic examination in 36/66 (54.5%), CT in 41/66 (62.1%), MRI in 39/52 (75%) and PET/CT in 46/63 (73.1%). The primary sites were additionally detected using PET/CT for nine cases of the 20 cases, where primary sites were not found using physical and endoscopic examination, CT or MRI. Guided biopsy was done in 11 cases, where primary sites were not detected by all of the methods; hence, primary sites for 3 cases were additionally revealed. CONCLUSION: PET/CT is a useful method when physical examination, CT and MRI cannot reveal the primary site of metastatic neck mass. Guided biopsy can be performed when primary site is not founded by any of the physical and imaging examinations.
Biopsy ; Biopsy, Fine-Needle ; Diagnosis ; Female ; Head and Neck Neoplasms ; Head* ; Humans ; Hypopharynx ; Lymph Nodes ; Magnetic Resonance Imaging ; Male ; Methods* ; Nasopharynx ; Neck* ; Neoplasm Metastasis ; Neoplasms, Unknown Primary ; Palatine Tonsil ; Physical Examination ; Positron-Emission Tomography and Computed Tomography ; Tongue

BACKGROUND: Up to 15% of all patients with brain metastases have no clearly detected primary site despite intensive evaluation, and this incidence has decreased with the use of improved imaging technology. Radiosurgery has been evaluated as one of the treatment modality for patients with limited brain metastases. In this study, we evaluated the effectiveness of radiosurgery for brain metastases from unknown primary tumors. METHODS: We retrospectively evaluated 540 patients who underwent gamma knife radiosurgery (GKRS) for brain metastases radiologically diagnosed between August 1992 and September 2007 in our institution. First, the brain metastases were grouped into metachronous, synchronous, and precocious presentations according to the timing of diagnosis of the brain metastases. Then, synchronous and precocious brain metastases were further grouped into 1) unknown primary; 2) delayed known primary; and 3) synchronous metastases according to the timing of diagnosis of the primary origin. We analyzed the survival time and time to new brain metastasis in each group. RESULTS: Of the 540 patients, 29 (5.4%) presented precocious or synchronous metastases (34 GKRS procedures for 174 lesions). The primary tumor was not found even after intensive and repeated systemic evaluation in 10 patients (unknown primary, 34.5%); found after 8 months in 3 patients (delayed known primary, 1.2%); and diagnosed at the same time as the brain metastases in 16 patients (synchronous metastasis, 55.2%). No statistically significant differences in survival time and time to new brain metastasis were found among the three groups. CONCLUSION: Identification of a primary tumor before GKRS did not affect the patient outcomes. If other possible differential diagnoses were completely excluded, early GKRS can be an effective treatment option for brain metastases from unknown primary tumor.
Brain* ; Diagnosis ; Diagnosis, Differential ; Humans ; Incidence ; Neoplasm Metastasis* ; Neoplasms, Unknown Primary ; Radiosurgery* ; Retrospective Studies

Herein, we report five cases of occult breast cancer treated with axillary node dissection only, without breast surgery or whole breast radio-therapy. The patients complained of a large, hard mass in the axillary area, although no breast masses were palpable. Biopsy of the axillary mass was performed in each case, and histological examination showed a metastatic carcinoma. No malignant findings were observed by mammography or ultrasonography. Magnetic resonance imaging and systemic examinations revealed no extramammary primary lesions. All patients underwent axillary lymph node dissection without breast surgery, and were administered adjuvant chemotherapy but not whole breast radiation therapy. The median follow-up period was 56 months (range, 15–241 months). The patients were all alive with no evidence of disease at the end of the follow-up period.
Axilla ; Biopsy ; Breast Neoplasms* ; Breast* ; Chemotherapy, Adjuvant ; Follow-Up Studies ; Humans ; Lymph Node Excision ; Magnetic Resonance Imaging ; Mammography ; Neoplasms, Unknown Primary ; Ultrasonography

Intracranial neoplasms usually have definitive symptoms, causing a need for medical intervention, but a few cases result in sudden unexpected death even before diagnosis. In these cases, autopsy or post-mortem imaging may be the only way of identifying the existence of a tumor, so investigators or forensic specialists who participate in the post-mortem inspection should be aware of these possibilities. We report on a case of a 26-year-old woman without any medical history found dead in her home. A 5-cm intraventricular tumor was found during autopsy, which was histologically consistent with anaplastic ganglioglioma a very rare type of neuroglial tumor with the potential for malignant behavior. The tumor showed the characteristic features of anaplastic ganglioglioma, such as increased cellularity, a high Ki-67 proliferative index, and necrosis. There were signs of increased intracranial pressure, including flattened gyri and dilated ventricles, which led to the conclusion that this brain tumor was the cause of death.
Adult ; Autopsy ; Brain Neoplasms ; Cause of Death ; Diagnosis ; Female ; Ganglioglioma* ; Humans ; Intracranial Pressure ; Necrosis ; Neoplasms, Unknown Primary ; Research Personnel ; Specialization

BACKGROUNDOccult invasive cervical cancer discovered after simple hysterectomy is not common, radical parametrectomy (RP) is a preferred option for young women. However, the morbidity of RP was high. The aim of our study is to assess the incidence of parametrial involvement in patients who underwent radical parametrectomy for occult cervical cancer or radical hysterectomy for early-stage cervical cancer and to suggest an algorithm for the triage of patients with occult cervical cancer to avoid RP.

METHODSA total of 13 patients with occult cervical cancer who had undergone RP with an upper vaginectomy and pelvic lymphadenectomy were included in this retrospective study. Data on the clinicopathologic characteristics of the cases were collected. The published literature was also reviewed, and low risk factors for parametrial involvement in early-stage cervical cancer were analyzed.

RESULTSOf the 13 patients, 9 had a stage IB1 lesion, and 4 had a stage IA2 lesion. There were four patients with grade 1 disease, seven with grade 2 disease, and two with grade 3 disease. The median age of the entire patients was 41 years. The most common indication for extrafascial hysterectomy was cervical intraepithelial neoplasia 3. Three patients had visible lesions measuring 10-30 mm, in diameter and ten patients had cervical stromal invasions with depths ranging from 4 to 9 mm; only one patient had more than 50% stromal invasion, and four patients had lymph-vascular space invasion (LVSI). Perioperative complications included intraoperative bowel injury, blood transfusion, vesico-vaginal fistula, and ileus (1 case for each). Postoperative pathologic examination results did not show residual disease or parametrial involvement. One patient with positive lymph nodes received concurrent radiation therapy. Only one patient experienced recurrence.

CONCLUSIONSPerioperative complications following RP were common, whereas the incidence of parametrial involvement was very low among selected early-stage cervical cancer patients. Based on these results, we thought that patients with very low-risk parametrial involvement(tumor size ≤ 2 cm, no LVSI, less than 50% stromal invasion, negative lymph nodes) may benefit from omitting RP. Further prospective data are warranted.

Adult ; Cervical Intraepithelial Neoplasia ; Combined Modality Therapy ; Female ; Humans ; Hysterectomy ; Lymph Node Excision ; Middle Aged ; Neoplasm Recurrence, Local ; Neoplasms, Unknown Primary ; Postoperative Complications ; Retrospective Studies ; Risk Factors ; Uterine Cervical Neoplasms

PURPOSE: Management of gastroenteropancreatic (GEP) neuroendocrine tumors with liver metastases (NETLM) presents many clinical challenges. Assessment of the extent of disease and primary tumor site is crucial for management. In this study, we investigated the primary tumor sites and prognostic factors in GEP NETLM among Korean patients. MATERIALS AND METHODS: We reviewed the medical records of 72 Korean patients diagnosed with GEP NETLM between January 1999 and May 2013, focusing on their clinical and pathologic characteristics. RESULTS: The most frequently encountered primary tumor sites were the pancreas (n=25, 35%), stomach (n=8, 11%), gall bladder (n=4, 6%) and rectum (n=3, 4%). Twenty-five patients (35%) had occult primary tumor. Twelve patients (17%) had histological grade G1 tumors, 30 patients (42%) had G2 tumors, and 30 patients (42%) had G3 tumors. The mean follow-up period after histological confirmation of hepatic metastases was 11.30+/-2.44 months for G3 tumors, 19.67+/-4.09 months for G2 tumors, and 30.67+/-6.51 months for G1 tumors. Multivariate analyses revealed that an unknown primary tumor site (p=0.001) and higher histological grade (p < 0.001) were independent prognostic indicators for shorter overall survival (OS). Most long-term survivors (OS > 24 months) had received antitumor treatment. CONCLUSION: The primary tumor site most frequently associated with GEP NETLM was the pancreas. Unknown primary tumor and higher histological grade were independent prognostic indicators for shorter OS. Patients identified as being at a risk of shorter OS should be followed up closely.
Follow-Up Studies ; Humans ; Korea* ; Liver* ; Medical Records ; Multivariate Analysis ; Neoplasm Metastasis* ; Neoplasms, Unknown Primary ; Neuroendocrine Tumors* ; Pancreas ; Pathology ; Prognosis ; Rectum ; Stomach ; Survivors ; Urinary Bladder

The occurrence of hepatocellular carcinoma (HCC) is closely associated with viral hepatitis or alcoholic hepatitis. Although active surveillance is ongoing in Korea, advanced or metastatic HCC is found at initial presentation in many patients. Metastatic HCC presents with a hypervascular intrahepatic tumor and extrahepatic lesions such as lung or lymph node metastases. Cases of HCC presenting as carcinoma of unknown primary have been rarely reported. The authors experienced a case of metastatic HCC in a patient who presented with a metastatic bone lesion but no primary intrahepatic tumor. This case suggests that HCC should be considered as a differential diagnosis when evaluating the primary origin of metastatic carcinoma.
Antineoplastic Agents/therapeutic use ; Bone Neoplasms/*diagnosis/diagnostic imaging/secondary ; Carcinoma, Hepatocellular/*diagnosis/drug therapy ; Cervical Cord/pathology ; Chemoembolization, Therapeutic ; Gamma Rays ; Humans ; Liver Neoplasms/*diagnosis/drug therapy ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neoplasms, Unknown Primary/pathology ; Niacinamide/analogs & derivatives/therapeutic use ; Pelvic Bones/pathology ; Phenylurea Compounds/therapeutic use ; Tomography, X-Ray Computed

OBJECTIVE: To analyze the clinical feature of cervical metastatic carcinoma of unknown primary site (CCUP) for guiding clinical diagnosis and treatment. METHOD: Twenty-seven cases of CCUP during May 2007 to September 2013 in department were analyzed retrospectively. Kaplan-Meier method and Log-rank test were used for survival analysis, multivariate analysis using the Cox regression model. RESULT: There is no significant influence among gender, age and the mass position on the median survival time. Median survival time of patients with different pathological types was statistically significant (P < 0.05). Treatment affected the median surial significantly (P < 0.05) and also was the independent prognostic factors (P < 0.05). CONCLUSION The early establishment of pathological type and primary focal position can improve the prognosis. Taking treatment according to pathological types can increase the patient's survival rate. Combined treatment can prolong the patient's survival time.
Carcinoma ; diagnosis ; secondary ; Combined Modality Therapy ; Head and Neck Neoplasms ; diagnosis ; secondary ; Humans ; Multivariate Analysis ; Neoplasms, Unknown Primary ; pathology ; Prognosis ; Retrospective Studies ; Survival Analysis ; Survival Rate