Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

High-grade conventional osteosarcoma of the mandible is a rare entity that can manifest as a rapidly growing mass. The authors report the case of a young adult patient with right mandible pain and swelling and a history of humeral osteosarcoma treated over 1 decade earlier. Computed tomography and magnetic resonance imaging showed a mass arising from the right mandible that progressed despite induction chemotherapy and the patient underwent surgery. Histopathology revealed the presence of malignant osteoblasts and osteoid, which led to the diagnosis of high-grade conventional osteosarcoma. There were also regional lymph node metastases. Genetic testing revealed a p53 germline mutation. The presence of mandibular osteosarcoma in a young patient should raise the suspicion of an underlying p53 germline mutation. Ultimately, the recurrent tumor regressed with Etoposide and Ifosfamide.
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PMID:High-Grade Conventional Osteosarcoma of the Mandible Associated With P53 Germline Mutation. 2942 Mar 87

Osteosarcoma is a rare primary bone tumor, which mainly affects children and adolescents and has a poor prognosis, especially for patients with metastatic disease. A poor therapeutic response to the conventional chemotherapy is observed with the development of lung metastases, highlighting the need for improving the current regimens and the identification of early markers of the recurrent and metastatic disease. Circulating Tumour Cells (CTCs) play a key role in the metastatic process and could be powerful biomarkers of the progressive disease. The present study aimed to isolate CTCs by using a pre-clinical model of human osteosarcoma and to monitor their kinetic of release and their modulation by ifosfamide. CTCs were detectable into the bloodstream before any palpable primary tumors. Ifosfamide increased CTCs count and in contrast decreased the number of lung tumor nodules. On established tumors, ifosfamide slowed down the tumour growth and did not modulate CTC count that could be explained by a release of cancer cells from the primary tumour with reduced properties for inducing lung metastases. This report highlights the biological interest of CTCs in osteosarcoma.
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PMID:Isolation of circulating tumor cells in a preclinical model of osteosarcoma: Effect of chemotherapy. 3012 35

Background: Angiosarcoma (AS) of the thyroid is a rare and aggressive tumor. Its incidence is higher in iodine-deficient areas but cases unrelated to endemic goiter have been reported. Case Presentation: We describe a case of a 63-year-old Italian man living in a non-iodine-deficient area, with no previous diagnosis of thyroid disease with a history of radiation exposure. The patient-an interventional cardiologist who had worked for 15 years in an angiographic room- came to the clinical observation because of the rapid onset of dyspnea and dysphonia. Computed tomography (CT) showed a 13-cm inhomogeneous neck mass, originating from the left thyroid lobe which caused displacement and stenosis of the trachea. The patient underwent diagnostic fine-needle aspiration that was followed by total thyroidectomy and lymphadenectomy of central and left lateral cervical nodes. The final pathological diagnosis was epithelioid angiosarcoma (EAS), high grade. The preoperative staging by CT of the head, neck, abdomen, chest and pelvis was negative. At pathological staging, the tumor was angionvasive but it was limited to the thyroid; no lymphnode metastases were detected. Chemotherapy with Epirubicin and Ifosfamide was administered for 4 cycles and, then, it was discontinued due to significant bone marrow toxicity. Conclusion: One year after diagnosis, the CT of neck, abdomen, chest, and pelvis were negative. At 2 years after diagnosis, the FDG-PET was negative with no evidence of the disease at CT Due to the known association between the occurrence of angiosarcoma after radiation therapy it is tempting to speculate that in this patient the presence of thyroid EAS may be linked to radiation exposure.The patient is still alive at 62 months after diagnosis. He is on a follow-up program by a 6-month /1-year neck, chest, abdomen, and pelvis CT evaluation with no signs of metastases.
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PMID:Primary Epithelioid Angiosarcoma of the Thyroid in a Patient Occupationally Exposed to Radiations. 3032 39

Ewing's sarcoma are small round cell tumors belonging to Ewing's family of tumors and the second most common bone tumor seen in children. The most common affected sites are long bones of extremities followed by pelvis and ribs. Primary arising in head and neck region is uncommon and maxillary Ewing's sarcoma is rarely seen. Histologically it is one of many small round cell tumors found in children and therefore immunohistochemical and occasionally molecular studies are required to establish the diagnosis. Imaging features include aggressive bony destruction with periosteal reaction and associated soft tissue mass. Treatment of this tumor is a combination of induction chemotherapy followed by surgery and/or radiation with completion of chemotherapy due to aggressive nature and a high propensity for metastases. Our case is an 11year-old boy diagnosed with primary non-metastatic Ewing's sarcoma of left maxilla. The tumor was positive for CD 99 and FLI-1 and negative for CD 45 and Tdt on immuno-histocytochemical examination. The patient was treated with induction chemotherapy comprising of alternating 3 weekly cycles of Vincristine, Adriamycin and Cyclophosphamide with Etoposide and Ifosfamide. This was followed by radical conformal radiation to a dose of 55.8Gy in 31 fractions with good response. Keywords: Ewing's sarcoma, maxilla, IHC, chemotherapy, radiation.
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PMID:Primary Ewing's Sarcoma of Maxillary sinus: A Case Report. 3159 95

Inflammatory myofibroblastic tumour (IMT) is a rare malignancy with limited responses to corticosteroids and chemotherapy. About half of cases have activating rearrangements in the ALK gene which could be targeted with ALK inhibitors. A 40-year-old man presented with a large right lung mass and nodal, trapezius and cerebral metastases. Biopsy confirmed IMT with TPM4-ALK fusion. He was treated with prednisolone without clinical benefit. He received the Trk/ROS1/ALK inhibitor entrectinib in a clinical trial but his disease progressed in less than 3 months. Ifosfamide and etoposide in addition to radiotherapy to the brain and chest were administered. Transient improvement in the radiotherapy-treated areas was observed but his disease progressed shortly afterwards on all sites including the development of new adrenal metastasis. Compassionate use of the third-generation ALK inhibitor lorlatinib resulted in excellent partial response on all disease sites after 2 months, followed by a further 6 months of disease stabilisation. Repeat imaging showed slight increase in size of the cerebral metastasis but stable disease elsewhere, for which he was given stereotactic radiotherapy. His disease progressed 3 months later and lorlatinib was substituted with another ALK inhibitor brigatinib but he deteriorated and died shortly afterwards. Our patient tolerated lorlatinib well for 11 months with minimal toxicities, although he developed unilateral right-sided lung consolidation that was probably related to a combination of infection, radiotherapy and lorlatinib, which needed treatment with antibiotics and corticosteroids. This case demonstrates a role of lorlatinib in the treatment of TPM4-ALK-rearranged IMT despite failure of entrectinib.
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PMID:Lorlatinib for the treatment of inflammatory myofibroblastic tumour with TPM4-ALK fusion following failure of entrectinib. 3286 46


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