Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-month-old female infant with a primary carcinoma of the choroid plexus developed a rhabdomyosarcoma in the anterior chest wall at the age of 1 year and 2 months. Her mother had developed a liposarcoma in her left thigh at the age of 17 years. One of the patient's siblings had a rhabdomyosarcoma of the epipharynx at the age of 1 year. This is the fourth reported case of a choroid plexus carcinoma occurring in Li-Fraumeni syndrome.
 ...
PMID:Primary carcinoma of the choroid plexus in Li-Fraumeni syndrome: case report. 842 42

We present a case of a 14-year-old male with a germline TP53 mutation who presented with synchronous primitive neuroectodermal tumor and choroid plexus carcinoma. Identification of synchronous brain tumors prompted genetic testing for predisposition to malignancy. Within 5 months of presentation, the child developed widely metastatic alveolar rhabdomyosarcoma. Patient DNA sequencing showed a TP53 allele with a premature stop codon in the oligomerization/nuclear export signal (NES) domain (R342ter). The child's parents, younger brother, paternal grandparents, and maternal grandmother, are without history of malignancy. The patient's brother tested negative for TP53 mutations. This case identifies a rare, de novo, germline TP53 mutation presenting with synchronous CNS malignancies and exhibiting a more fulminant course than typical cases of Li-Fraumeni syndrome.
 ...
PMID:De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system. 1971 36