| Autor: |
Nathany, Shrinidhi, Chatterjee, Gaurav, Ghai, Shruti, Moulik, Nirmalya Roy, Shetty, Dhanalaxmi, Subramanian, PG, Tembhare, Prashant, Gujral, Sumeet, Dhamne, Chetan, Banavali, Sripad, Narula, Gaurav, Patkar, Nikhil |
| Předmět: |
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| Zdroj: |
International Journal of Laboratory Hematology; Dec2021, Vol. 43 Issue 6, p1531-1538, 8p |
| Abstrakt: |
Introduction: Juvenile myelomonocytic leukemia (JMML) is a rare childhood neoplasm (<5% cases), which has been categorized under myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in the recent classification by the World Health Organization. Methods: We developed a 51‐gene (151.5kB) low‐cost targeted myeloid panel based on single‐molecule molecular inversion probes to comprehensively evaluate the genomic profile of Juvenile myelomonocytic leukemia (JMML). Results: A total of 50 children with clinical and pathological features of JMML were sequenced at high coverage. Among the 50 patients, 44(88%) harbored mutations in one of the RAS/MAPK‐pathway genes, most frequently in NRAS (32%), followed by PTPN11 (28%) and NF1 (22%). One‐fifth of children had more than one mutation, with 5 cases harboring two RAS pathway mutations. Monosomy 7 was detected in 32% (16) patients, and five of these did not harbor any RAS pathway mutations. Children with monosomy 7 showed shorter overall survival compared with their wild‐type counterparts (P =.02). Conclusion: Our study highlights that comprehensive genomic profiling identifies at least one mutation in almost 90% of JMML patients. Performing genomic analysis at baseline might help in triaging children with JMML for allogenic stem cell transplant in resource‐constrained settings. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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