Year: 2022
Type: Proceeding article
Title: CASE REPORT OF A WOMAN WITH LI FRAUMENI SYNDROME
Author: Bitoska, Iskra
Author: Todorova, Biljana
Author: Subeska Stratrova, Slavica
Author: Pavlevska, Elena
Author: Jovanovska Mishevska, Sasha
Author: Bajraktarova Prosheva, Tatjana
Author: Milenkovic Tatjana
Abstract: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is ≥70% for men and ≥90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. We report a case of a 48-year-old lady reffered to endocrinology clinic as a routine part of preoperative endocri nology assessment due to tumorous formation seen on CT scan of the abdomen, located in the retroperitoneal, paraaortal and paravertebral part of the left hypochondrium (85x95x100 mm). She had her CT scan done due to numbness in the lower left part of her back, without any other health issues. She had normal gynecological his tory with no menstrual disturbances. The laboratory revealed Androstenedion> 10 ng/ml, DHEA-S 19,42 µmol/l, Total testosteron 6,08 nmol/l. The other hormonal analyses were normal, including 1 mg suppressive overnight dexamethasone test. Chromogranin A, VMA and methanephrine in 24 hr. A left adrenalectomy was done. The fi nal patohistology diagnosis was consistent with adrenocortical carcinoma - high grade. A month after the surgery, the breast cancer was discovered and radical left mastectomy was done. The genetic testing revealed Li Fraumeni Syndrome with c375G>TP53gen. And the patient is undergoing hemotherapy and radiotherapy. We conclude that whenever adrenocortical carcinoma, which is rear type of tumor, is established, it should be followed by genetic testing.
Publisher:
Relation: 6 th MACEDONIAN CONGRESS of ENDOCRINOLOGY with international participation and 7th DIABETES DAYS IN MACEDONIA with international participation
Identifier: oai:repository.ukim.mk:20.500.12188/27353
Identifier: http://hdl.handle.net/20.500.12188/27353
