eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | li-fraumeni syndrome |
| Comorbidity | C1261473|sarcoma |
| Sentences | 6 |
| PubMedID- 25745605 | Afamilies were classified according to the clinical definitions of li-fraumeni syndrome (lfs, proband with sarcoma at 45 years and a first-degree relative with tumor at 45 and another close relative with tumor at 45, or sarcoma at any age) or li-fraumeni-like syndromes; lfl(b), proband with any childhood cancer or sarcoma, brain tumor or adrenocortical carcinoma at 45 years, with one first- or second-degree relative with typical lfs cancer, including sarcoma, breast cancer, brain tumor, leukemia, or adrenocortical carcinoma at any age, plus one first- or second-degree relative in the same lineage with any cancer diagnosed under age 60; lfl(c), proband with tumor belonging to lfs tumor spectrum (soft-tissue sarcoma, osteosarcoma, brain tumor, pre-menopausal breast cancer, adrenocortical carcinoma, leukemia, lung bronchoalveolar cancer) before age 46 years and at least one first- or second-degree relative with lfs tumor (except breast cancer if proband has breast cancer) before age 56 years or with multiple tumors; or proband with multiple tumors (except multiple breast tumors), two of which belong to lfs tumor spectrum and first of which occurred before age 46 years; or patient with adrenocortical carcinoma or choroid plexus tumor, irrespective of family history. |
| PubMedID- 26045851 | sarcomatous transformation of egfr and tp53 mutation-positive metastatic adenocarcinoma of the lungs, masquerading as a primary pleomorphic sarcoma of the proximal femur. |
| PubMedID- 21624110 | A panel of sarcoma cell lines with different tp53 and mdm2 status were treated with nutlin-3a combined with doxorubicin, methotrexate or cisplatin, and their combination index determined. |
| PubMedID- 21837677 | Conclusions: the current results further demonstrated genotype-phenotype correlations and age-dependent variations in sarcoma types in carriers of germline tp53 mutations. |
| PubMedID- 22041521 | To our knowledge, our patient is the first patient having a bone infarct-associated sarcoma with a p53 gene mutation. |
| PubMedID- 25801700 | Retra exerts anticancer activity in ewing's sarcoma cells independent of their tp53 status. |
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