Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation.

[dedifferentiated liposarcoma]

Germ line mutations in genes that encode proteins involved in the DNA damage response predispose patients to a variety of tumors . Checkpoint kinase 2 , encoded by the CHEK 2 gene , is important in transducing the DNA damage response . Germ line CHEK 2 mutations are seen in a subset of patients with a familial breast cancer and sarcoma phenotype . We report a case of retroperitoneal dedifferentiated liposarcoma in a 61 -year -old female with germ line CHEK 2 mutation . MDM 2 gene amplification normally present and used to aid in the diagnosis of retroperitoneal dedifferentiated liposarcoma was absent in this case . Lack of MDM 2 overexpression has similarly been reported in liposarcomas arising in patients with germ line TP 53 mutations . We propose this case may highlight a nonamplified MDM 2 phenotype in well- and dedifferentiated liposarcomas arising in patients with germ line mutations of genes involved in p 53 -associated DNA damage response pathways .

Diseases
Validation

Diseases presenting "breast cancer" symptom

acute rheumatic fever

aromatase deficiency

carcinoma of the gallbladder

child syndrome

cowden syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

esophageal squamous cell carcinoma

junctional epidermolysis bullosa

kindler syndrome

liposarcoma

lymphangioleiomyomatosis

oral submucous fibrosis

proteus syndrome

severe combined immunodeficiency

systemic capillary leak syndrome

von hippel-lindau disease

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

This symptom has already been validated