A novel cryptic CBFB-MYH11 gene fusion present at birth leading to acute myeloid leukemia and allowing molecular monitoring for minimal residual disease
| Autor: | M. A. Veening, Shama L. Bhola, V. de Haas, J. W. Wessels, Marielle J. Wondergem, Pauline A. Merle, M. B. Mansur, Gertjan L. Kaspers, Pino J. Poddighe, W.A. Kors, A. M. Ford, Theresia M. Westers, A H Loonen |
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| Přispěvatelé: | Human genetics, AII - Cancer immunology, CCA - Cancer biology and immunology, Pediatric surgery, Hematology laboratory, Hematology |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry Cytogenetics Myeloid leukemia medicine.disease Pancytopenia Minimal residual disease Pathology and Forensic Medicine Fusion gene 03 medical and health sciences Leukemia 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis hemic and lymphatic diseases Immunology MYH11 lcsh:Pathology Medicine CBFB/MYH11 Fusion Gene business lcsh:RB1-214 |
| Zdroj: | Human Pathology: Case Reports, Vol 11, Iss, Pp 34-38 (2018) Poddighe, P J, Veening, M A, Mansur, M B, Loonen, A H, Westers, T M, Merle, P A, Wessels, J W, de Haas, V, Kors, W A, Bhola, S L, Wondergem, M J, Ford, A M & Kaspers, G J L 2018, ' A novel cryptic CBFB-MYH11 gene fusion present at birth leading to acute myeloid leukemia and allowing molecular monitoring for minimal residual disease ', Human Pathology: Case Reports, vol. 11, pp. 34-38 . https://doi.org/10.1016/j.ehpc.2017.09.001 Human Pathology: Case Reports, 11, 34-38. Elsevier Inc. |
| ISSN: | 2214-3300 |
| Popis: | Acute myeloid leukemia (AML) with the inv(16)/t(16;16) karyotype is associated with a favourable prognosis, showing longer periods of complete remission and high overall survival rates. Here we report a four year old girl, who presented with pallor, a history of viral infections and pancytopenia, an abnormal karyotype, but initially no signs of leukemia. After one month, molecular diagnostics revealed a rare CBFB/MYH11 fusion variant transcript type S/I, leading to the diagnosis of CBF AML. Additional FISH confirmed the presence of a cryptic CBFB/MYH11 fusion. We developed a nested PCR test for the CBFB/MYH11 fusion gene transcript S/I to monitor this patient for minimal residual disease. Eleven months after complete remission this transcript was still absent in peripheral blood samples.Because at presentation this girl had no clinical signs of leukemia, but showed an abnormal karyotype with a cryptic CBFB-MYH11-fusion, we investigated whether this fusion was already present at birth. Therefore, the DNA fusion junction was cloned from diagnostic DNA and the patient-specific sequence was used to investigate the neonatal blood spot. Remarkably, the type S/I transcript of CBFB/MYH11 was present in the neonatal blood spot, most likely being the first hit in leukemogenesis. Keywords: AML, CBFB-MYH11 fusion gene, Cytogenetics, RT-PCR, MRD, Neonatal blood spot |
| Databáze: | OpenAIRE |
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