[Neoplasm of unknown primary site with pan-hypopituitarism].
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Estrogen receptor protein was found in 24% of colonic neoplasms. Presence of estrogen receptor activity was independent of age or sex of the patient, state of differentiation or spread of the tumor, and concentration of carcinoembryonic antigen in the tumor. Estrogen receptor activity in colon tumors probably reflects novel protein synthesis resulting from dedifferentiation. Measurement of tumor estrogen receptor protein and carcinoembryonic antigen may have discriminatory value in the patient with metastatic adenocarcinoma and an unknown primary neoplasm.
Rhabdomyosarcoma of the head and neck often presents with vague symptoms which mimic other disease conditions. These factors lead to undue delay in the establishment of the correct diagnosis and the delivery of acceptable therapy, including surgery, radiation therapy, and chemotherapy. There is, however, evidence of improved results of treatment of these tumors since the addition of multiple drug chemotherapy to surgery and radiotherapy.
INTRODUCTION: Although several genomic alterations have been reported in adenocarcinoma of unknown primary (ACUP), molecularly targeted therapies are not yet clinically established, and comprehensive genomic profiling (CGP) is rarely used in daily practice. AIM: We aimed to clarify the molecular landscape and prognostic impact of key mutations in recurrent or metastatic ACUP. MATERIALS AND METHODS: Data from 480 consecutive ACUP patients registered in Japan's National Cancer Center (C-CAT) between June 2019 and August 2025 were analyzed. Somatic mutations were identified using the FoundationOne CDx platform. Overall survival (OS) was assessed by Kaplan-Meier analysis, log-rank tests, and multivariate Cox proportional hazards modeling. RESULTS: The most frequent alterations were TP53 (59.4%), KRAS (31.5%), CDKN2A (26.3%), KMT2D (22.3%), LTK (17.9%), NOTCH3 (16.9%), STK11 (16.3%), CDKN2B (15.8%), ERBB2 (15.4%), and GNAS (15.2%). Patients harbored an average of 17.3 9.9 mutations. Mutations in GNAS (p = 0.046) and PIK3CA (p = 0.025) were associated with better OS, whereas ARID1A (p = 0.049) and NOTCH1 (p = 0.038) predicted worse OS. In Cox analysis, hazard ratios (HR [95% CI]) were 0.57 (0.36-0.92, p = 0.020) for GNAS, 0.57 (0.33-0.96, p = 0.033) for PIK3CA, 1.98 (1.27-3.09, p = 0.0024) for ARID1A, and 1.84 (1.17-2.91, p = 0.0090) for NOTCH1. CONCLUSIONS: GNAS and PIK3CA mutations were linked to favorable outcomes, while ARID1A and NOTCH1 alterations indicated poor prognosis in ACUP. These results highlight the prognostic significance of specific genomic alterations and support integrating CGP into the clinical management of ACUP.
INTRODUCTION: Current guidelines for the management of metastatic squamous cell carcinoma of unknown primary (SCCUP) recommend submission of suspicious primary sites for frozen section analysis (FSA). This study aims to investigate the diagnostic accuracy of FSA for identification of HPV-associated SCCUP. METHODS: A retrospective cohort study of patients with biopsy-proven p16-positive SCCUP who underwent diagnostic operation at two tertiary care institutions was performed. Sensitivity, specificity, PPV, and NPV of diagnostic FSA were assessed. RESULTS: 77 patients were included in analysis. 66 patients underwent definitive TORS (diagnostic TORS operation with subsequent neck dissection after identification of the occult primary tumor), 7 patients underwent diagnostic TORS (TORS to identify occult primary tumor, no neck dissection), and 4 patients underwent direct laryngoscopy and biopsy only. Primary tumors were identified in 63 patients (82%) with a mean tumor size of 1.1 cm. There was no significant difference in size between patients whose tumor was identified on FSA (mean 1.1 cm) and on permanent only (mean 0.9 cm) (p = 0.26). The sensitivity, specificity, PPV, and NPV of FSA for SCCUP was 86%, 100%, 100%, and 86%, respectively. Diagnostic frozen specimens included 52 direct laryngoscopy biopsies and 69 TORS excisions. In the biopsies, sensitivity was 100% and NPV was 100%, whereas in the TORS-excised specimens, sensitivity was 77% and NPV was 77%. CONCLUSIONS: In this case series of 77 patients with SCCUP, the sensitivity and NPV of FSA for identification of the primary tumor was over 85%. FSA is valuable during diagnostic operation for SCCUP.
The aggressive behavior and potentially lethal nature of some hemangiopericytomas primary in the orbit are generally unknown in the field of ophthalmology. The neoplasm is not common in the orbit, and reports in the ophthalmic literature usually describe single-case examples of the neoplasm with short-term periods of observation. Two in our series of 11 patients died of metastasis 35 years after the onset of symptoms. Another patient died of local orbital recurrence with secondary invasion of the intracranial vault, which was possibly related to heavy radiotherapy. In the orbit, those neoplasms frequently are circumscribed in their growth. Complete and intact removal is recommended. If the tumors are incompletely excised, recurrences are frequent but may not be manifest as long as ten years after surgery.
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Malignancies of the head and neck constitute 15 percent of the malignancies of all patients seen with cancer. Those individuals who present with neck masses deserve appropriate physical and diagnostic work-up before any surgical or therapeutic approaches are contemplated. In the series of patients presented here, only six percent had unknown primary lesions.
The computed tomography findings of six patients with calcified liver metastases are presented. The significance of this finding in patients with unknown primary malignancies or after multiple courses of chemotherapy is stressed.
The analysis is based on the catalogue of neoplasms notifiable in the German Democratic Republic (ICD-Code Nrs. 140-209, 210.2, 211.3, 211.9, 225, 226.2, 226.3, 253.0, 253.2, 702, 757.2). At the Medical Academy of Erfurt 22,155 autopsies (12,212 males, 9,943 females) of adults (15 years and upwards) were registrated in the period from 1950 to 1966. 7,533 malignant tumours (34.2%) were observed. 99 cases were eliminated because of an unknown localization of the primary tumour. The remaining 7,442 cases (33.6%) are distributed among 3,987 males (326% of males) and 3,455 females (34,7% of females). The frequency difference based on the autopsy frequency of males or females, is distinct. Malignant epithelial tumours were observed in 5,559 cases (253% of autopsies; 752% of malignant tumours); 2,945 males and 2,654 females. The frequency difference also is distinct. Malignant nonepithelial tumours were observed in 1,843 cases (83% of autopsies, 24.8% of malignant tumours); 1,042 males and 801 females. There is no difference in frequency. Age and sex distribution as well as the relative curve of age distribution (Dormanns 1933) are presented for all the tumours, epithelial and nonepithelial neoplasms. The frequency of primary tumour-localization is reported for males and females, too. In males the frequency is in the following order: lung, stomach, hemopoetic-lymphatic system, colon and central nervous system; in females: sex organs (without mamma), stomach, colon, hemopoetic-lymphatic system and central nervous system.
Lymphocyte mediated immune reactions play a major role in the immunological defense against antigenic tumor cells. Serum factors (antigens, antigen-antibody complexes) can thwart these reactions, perhaps by interfering with a lymphocyte "activation" process. Blocking factors can be eluted from lymphoid cells harvested from tumor-bearing animals. One way of increasing cell-mediated reactivity to tumor antigens appears to be to sensitize (or "activate") lymphocytes against tumor antigens in vitro. Another way may be to inoculate animals with sera containing lymphocyte-dependent and unblocking antibodies. Preliminary evidence is presented that inoculation of such sera from rabbits immunized with mouse embryonie cells and extensively absorbed may delay the appearance of primary, methyleholanthrene-induced sarcomas in BALB/c mice; the mechanisms responsible for this delay remain unknown.
Many years after apparent cure recrudescence of neuroblastoma was reported in 2 patients. In 1 patient, two recurrences occurred 5 and 10 years after apparent disappearance of tumor. Factors contributing to the extraordinary clinical course are unknown. Speculation rests on tumor characteristics, environmental influences, immunity, or the development of a second primary tumor.