The complex karyotype in hematological malignancies: a comprehensive overview by the Francophone Group of Hematological Cytogenetics (GFCH)

• Published in: Leukemia Vol. 36; no. 6; pp. 1451 - 1466
• Main Authors: Nguyen-Khac, F., Bidet, A., Daudignon, A., Lafage-Pochitaloff, M., Ameye, G., Bilhou-Nabéra, C., Chapiro, E., Collonge-Rame, M. A., Cuccuini, W., Douet-Guilbert, N., Eclache, V., Luquet, I., Michaux, L., Nadal, N., Penther, D., Quilichini, B., Terre, C., Lefebvre, C., Troadec, M.-B., Véronèse, L.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01-06-2022; Nature Publishing Group; Springer Nature
• Subjects: 38/32; 45; 631/208/1405; 692/699/1541/1990; Abnormalities; Cancer Research; Chromosome Aberrations; Complexity; Critical Care Medicine; Cytogenetic Analysis - methods; Cytogenetics; Hematologic Neoplasms - diagnosis; Hematologic Neoplasms - genetics; Hematological diseases; Hematology; Humans; Intensive; Internal Medicine; Karyotype; Karyotypes; Life Sciences; Medicine; Medicine & Public Health; Oncology; Prognosis; Review Article; Societies, Medical
• ISSN: 0887-6924; 1476-5551
• DOI: 10.1038/s41375-022-01561-w

Karyotype complexity has major prognostic value in many malignancies. There is no consensus on the definition of a complex karyotype, and the prognostic impact of karyotype complexity differs from one disease to another. Due to the importance of the complex karyotype in the prognosis and treatment of several hematological diseases, the Francophone Group of Hematological Cytogenetics (
Groupe Francophone de Cytogénétique Hématologique, GFCH
) has developed an up-to-date, practical document for helping cytogeneticists to assess complex karyotypes in these hematological disorders. The evaluation of karyotype complexity is challenging, and it would be useful to have a consensus method for counting the number of chromosomal abnormalities (CAs). Although it is not possible to establish a single prognostic threshold for the number of CAs in all malignancies, a specific consensus prognostic cut-off must be defined for each individual disease. In order to standardize current cytogenetic practices and apply a single denomination, we suggest defining a low complex karyotype as having 3 CAs, an intermediate complex karyotype as having 4 CAs, and a highly complex karyotype as having 5 or more CAs.