Pregled bibliografske jedinice broj: 1106591
A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma – a case report
A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma – a case report // Bmc medical genetics, 21 (2020), 190, 4 doi:10.1186/s12881-020-01129-4 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 1106591 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
A novel mutation of the MEN1 gene in a patient
with multiple endocrine neoplasia type 1 and
recurrent fibromyxoid sarcoma – a case report
Autori
Radman, Maja ; Miličević, Tanja
Izvornik
Bmc medical genetics (1471-2350) 21
(2020);
190, 4
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Multiple endocrine neoplasia type 1, Tumor-suppressing gene, Mutation, Low-grade fibromyxoid sarcoma
Sažetak
Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non- endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
KBC Split,
Medicinski fakultet, Split
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
