Juvenile myelomonocytic leukemia is a rare neoplastic disorder occurring in early childhood often showing an aggressive progression. We report a case of a twin pair with concordant JMML but an extremely different disease course. Both twins presented with somatic aberrations of chromosome 7 and mutations in PTPN11. Analysis of sorted BM and PB cell populations revealed the clonal nature of the disease and indicated that genomic aberrations arise from common hematopoietic precursor cells. PTPN11 mutations in oral swab specimens of both patients during the active phase of the disease were attributed to monocytes infiltrating the oral mucosa and not to the presence of mosaic tissue mutations. This study provides evidence that the discordant clinical disease course in the twins is associated with a distinct gene expression profile.
Discordant dISEASE course in a Monozygotic Twin Pair with Juvenile Myelomonocytic Leukemia
CESARO, SIMONE;
2014-01-01
Abstract
Juvenile myelomonocytic leukemia is a rare neoplastic disorder occurring in early childhood often showing an aggressive progression. We report a case of a twin pair with concordant JMML but an extremely different disease course. Both twins presented with somatic aberrations of chromosome 7 and mutations in PTPN11. Analysis of sorted BM and PB cell populations revealed the clonal nature of the disease and indicated that genomic aberrations arise from common hematopoietic precursor cells. PTPN11 mutations in oral swab specimens of both patients during the active phase of the disease were attributed to monocytes infiltrating the oral mucosa and not to the presence of mosaic tissue mutations. This study provides evidence that the discordant clinical disease course in the twins is associated with a distinct gene expression profile.
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