Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome
| Autor: | N Bourcigaux, A. Khodawardi, Jean-Pierre Siffroi, A. Graff, Sophie Christin-Maitre, Camille Vatier, M.C. Villy, A. Borgel, B. Donadille, H. Morel |
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| Přispěvatelé: | Sorbonne Université (SU), Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique chromosomique [CHU Trousseau], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Couvet, Sandrine |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
MESH: Mouth Mucosa
[SDV]Life Sciences [q-bio] Buccal swab blood karyotype Turner Syndrome [SDV.GEN] Life Sciences [q-bio]/Genetics Cohort Studies 0302 clinical medicine Turner syndrome Medicine X/46 Prospective Studies MESH: Cohort Studies Ovarian Neoplasms 030219 obstetrics & reproductive medicine medicine.diagnostic_test Mosaicism Rehabilitation Obstetrics and Gynecology [SDV] Life Sciences [q-bio] MESH: Ovarian Neoplasms buccal cells FISH Cohort Female MESH: Mosaicism Cohort study Adult medicine.medical_specialty MESH: Turner Syndrome Urinary system Gonadoblastoma 030209 endocrinology & metabolism [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics 03 medical and health sciences Internal medicine Humans [SDV.GEN]Life Sciences [q-bio]/Genetics MESH: Humans business.industry Mouth Mucosa Turner’s syndrome MESH: Adult Buccal administration medicine.disease MESH: Prospective Studies Reproductive Medicine [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Skin biopsy business MESH: Female X monosomy XX mosaicism |
| Zdroj: | Human Reproduction Human Reproduction, 2020, 35 (10), pp.2391-2398. ⟨10.1093/humrep/deaa197⟩ |
| ISSN: | 0268-1161 1460-2350 |
| Popis: | STUDY QUESTION Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS. STUDY DESIGN, SIZE, DURATION A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients’ files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed. MAIN RESULTS AND THE ROLE OF CHANCE The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis. LIMITATIONS, REASONS FOR CAUTION It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient’s phenotype. However, most of the time, these tissues are not available. WIDER IMPLICATIONS OF THE FINDINGS Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was sought for the study. The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A N/A. |
| Databáze: | OpenAIRE |
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