Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sarcoidosis is a disease process of unknown cause that exhibits heterogeneous clinical manifestations. Although the mediastinum and lungs are most commonly involved, the granulomatous process may also affect the skeleton, skin, eyes, kidneys, spleen, and liver. A 51-year-old woman with low back pain and no history of cancer was found to have a suspicious lesion at L4 on magnetic resonance imaging. Findings of bone scintigraphy were consistent with multiple metastases, and computed tomography of the chest identified two small indeterminate pulmonary nodules. Similarly, findings of fluorodeoxyglucose positron emission tomography were consistent with widespread skeletal metastases, but a primary tumor was not identified. Biopsy of a left femur lesion was diagnostic of active sarcoidosis with no evidence of cancer.
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PMID:Unsuspected skeletal sarcoidosis mimicking metastatic disease on FDG positron emission tomography and bone scintigraphy. 1259 22

Primary carcinoid tumor (well-differentiated neuroendocrine tumor) of the bone involving the sacrum is extremely rare. We report the case of a 72-year-old man who presented with a 20-year history of intermittent low back pain and was found to have an intraosseous sacral mass on imaging. A needle biopsy revealed that this lesion was a well-differentiated neuroendocrine tumor. Workup did not show any primary tumor or other metastatic disease. There was no associated tailgut cyst or sacrococcygeal teratoma. The lesion was treated with radiation therapy because a surgical approach was rejected. The patient is free of metastatic disease after 28 years evolution of the lesion, retrospectively seen to be present on a conventional radiography performed in 1980. A review of the literature revealed 20 case reports of neuroendocrine tumors arising from the presacral region (with or without associated tailgut cyst or sacrococcygeal teratoma) and sometimes extending to the sacrum. One additional case was located within the neural canal and involved the sacrum, the presacral region, and the rectal wall. Our case is the only tumor arising primarily from the sacrum. The long evolution of this lesion without any other location makes metastatic disease very improbable and this case appears to be a unique example of primary intraosseous sacral carcinoid tumor.
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PMID:Primary neuroendocrine tumor of the sacrum: case report and review of the literature. 1936 Apr 3

We report the F-18 fluorodeoxyglucose positron emission tomography/computed tomography appearance of a biopsy-proven primary epidural non-Hodgkin lymphoma involving the lower cervical and upper thoracic spine with a small hypermetabolic right middle lobe nodule in a 33-year-old man. The HIV-positive patient presented with mid- to low back pain for several days, which progressed to lower extremity weakness and urinary retention. Primary spinal epidural non-Hodgkin lymphoma is a rare form of malignancy, constituting approximately 0.1% to 3.3% of all lymphomas. In our case, the primary tumor appears as an intensely hypermetabolic soft-tissue mass involving the posterior epidural space from C6 through T9 levels.
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PMID:Primary spinal epidural non-Hodgkin lymphoma demonstrated by FDG PET/CT. 2054 38

We report a case of a 56-year-old male who presented with several month history of severe low back pain. Physical examination revealed generalized tenderness at his thoracolumbar spine without notable neuromuscular findings. Radiographs revealed a chronic compression fracture of T10 and T11 with anterior height loss. Subsequent magnetic resonance imaging demonstrated multiple lytic lesions in the thoracolumbar spine without canal compromise. During his hospital stay, he developed acute cord compression with loss of motor and sensory levels below T12 and an absence of sphincter tone. The patient was taken for emergent multilevel, posterior decompression and fusion with biopsy of the lesion. Microscopic examination of the tissue in addition to immunohistochemical analysis utilizing CD117-antibody/c-kit revealed gastrointestinal stromal tumor. Further workup revealed the primary tumor to be intra-abdominal and the patient was subsequently begun on adjuvant chemotherapy. Gastrointestinal stromal tumors should be considered in the workup of patients with bone metastasis with an unknown primary malignancy.
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PMID:Aggressive gastrointestinal stromal tumor with spinal metastases: a case report. 2593 23

A 39-year-old woman presented with low back pain lasting for several weeks. Abdominopelvic computed tomography showed an ovarian cystic mass with an enhancing solid portion, fat and internal calcification. A right salpingo-oophorectomy was performed. A 9.7 cm round multiseptated cystic mass showed pathology of mature cystic teratoma and contained a solid portion, measuring 4.2 cm, composed mainly of carcinoid cells arranged in a trabecular-insular configuration admixed with surrounding thyroid follicles containing colloid. Juxtaposed were several nests of columnar cells interspersed with goblet cells and extracellular mucin pools. In the cyst wall of the teratoma, the lining of pseudostratified columnar cells was occasionally mixed with goblet cells transforming to the carcinoid portion. Immunohistochemically, both mucinous and strumal carcinoids were positive for polyclonal carcinoembryonic antigen, caudal type homeobox 2, cytokeratin (CK)7, CK20, synaptophysin, CD56 and focally positive for chromogranin. Thyroid follicles were positive for thyroid transcription factor-1 and thyroglobulin. After gastrointestinal and respiratory tract evaluation, no evidence of primary tumor, including omentum, was observed. The mass was diagnosed as a mixed strumal and mucinous type carcinoid associated with a mature cystic teratoma.
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PMID:Primary ovarian mixed strumal and mucinous carcinoid arising in an ovarian mature cystic teratoma. 2660 56

A 77-year-old Japanese man presented to our hospital with a 1-month history of low back pain and was diagnosed as having stage IV EGFR mutation-positive lung adenocarcinoma. After treatment with EGFR tyrosine kinase inhibitor and cytotoxic chemotherapy, nivolumab was started as fourth-line therapy. Remarkable regression of the primary tumor was observed, suggesting high anti-tumor activity of nivolumab. We retrospectively investigated the change in circulating tumor DNA (ctDNA) variant allele fractions in serial plasma samples before and after the nivolumab therapy. Targeted sequencing analysis showed tumor-derived TP53R249S and EGFRL858R mutations detectable in plasma, and the timing of decrease was only 5 days, much earlier than the appearance of radiological changes. Overall, these results suggest that ctDNA might reflect tumor burden and might be a surrogate marker of the therapeutic efficacy of immune checkpoint therapy.
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PMID:Rapid decrease of circulating tumor DNA predicted the treatment effect of nivolumab in a lung cancer patient within only 5 days. 2864 87

Testicular germ cell tumors (TGCTs) are the most frequent type of cancer in young adults. An exceptional event is the spontaneous regression (SR) of the primary tumor. Herein, we describe a burned-out non-seminomatous TGCT case and relevant literature review. A 34-year-old male presenting with low back pain was found to have a retroperitoneal mass upon urotomography. During workup, a heterogeneous testicular mass was evident, and its biopsy showed findings that support the diagnosis of spontaneous tumoral regression. The patient underwent unilateral orchiectomy and a chemotherapy protocol was later initiated, with 85% regression of the retroperitoneal metastatic mass. No progression of the primary tumor has been found. The etiology of SR across different cancer types appears to be associated with the host's immune response and an angiogenic disturbance of the tumor microenvironment. The burned-out phenomenon is a rare event that needs further research into its molecular sequencing.
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PMID:Spontaneous regression as a 'burned-out' non-seminomatous testicular germ cell tumor: a case report and literature review. 3064 99

Patients with cancer of unknown primary (CUP) are generally treated with chemotherapy. Bone marrow involvement suggests an advanced stage, and CUP with disseminated carcinomatosis of the bone marrow (DCBM) appears to have a dismal prognosis. However, our case of CUP with DCBM was successfully treated with a sequence of endocrine therapy over a long period. A woman presenting with low back pain was found to have multiple bone metastasis without an identifiable primary tumor on imaging studies. Blood tests revealed anemia and thrombocytopenia. A bone marrow biopsy was performed and showed relatively uniform small cells, strongly positive for estrogen receptor and progesterone receptor expression. We considered chemotherapy to be risky due to bicytopenia and an aromatase inhibitor, letrozole, was initiated. The patient's symptoms and laboratory findings gradually improved and bone lesions almost disappeared on FDG-PET/CT after 1 year of treatment. After 2 years on letrozole, hemoglobin levels and platelet counts had been gradually decreasing. Although she had no symptoms and no significant changes were observed on a CT scan, disease progression was highly likely. Thus, second-line treatment with fulvestrant and palbociclib was commenced, and hemoglobin levels and platelet counts were restored to within the normal ranges. She currently continues to receive fulvestrant and palbociclib over a year later. CUP complicated with DCBM might be metastatic occult breast cancer, and endocrine therapy can be a valuable treatment option if tumors express hormone receptors.
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PMID:Disseminated Carcinomatosis of the Bone Marrow from Occult Breast Cancer Responding to a Sequence of Endocrine Therapy. 3223 44