Idiopathic Myelofibrosis in an Infant

Bavikar, Rupali; Kulkarni, Anjali; Rathod, Ashok D.; Hastak, Meenal

doi:10.1007/s12098-010-0340-6

Cited by 2 publications

(4 citation statements)

References 8 publications

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“…It is rare in children, and only a handful of childhood PMF cases, accompanied by other diseases and with disparate clinical symptoms, have been reported to date [6], [10]. A close relationship between PMF and leukemia has been demonstrated by Tavares, with PMF diagnosed either prior to acute leukemia or after leukemia treatment (http://emedicine.medscape.com/article/956806-overview#a3).…”

Section: Discussionmentioning

confidence: 99%

“…The incidence of PMF is approximately 1 case per 100,000 people, with a median age of onset of 60 years [8]. PMF is extremely rare in children [9], although sporadic childhood PMF cases have been described throughout the world [2], [6], [10]. Up till now, most studies have focused more on the clinical and cytogenetic phenotypes associated with the disease, rather than on drug therapies and related mechanisms.…”

Section: Introductionmentioning

confidence: 99%

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Transcriptome Analysis of Monozygotic Twin Brothers with Childhood Primary Myelofibrosis

Ding

Zhang

Yang

et al. 2017

Genomics, Proteomics &Amp; Bioinformatics

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Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bone marrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However, these mutations are rarely detected in children, suggesting a difference in the pathogenesis of childhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twin pair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2 and Y2) were significantly different between the twin pair, which is consistent with the observation that the drug treatment was effective only in the younger brother, despite the twin being genetically identical. Bioinformatics analysis of the drug-responsive genes showed that the JAK-STAT pathway was activated in the cured younger brother, which is opposite to the pathway inhibition observed in adult PMF cases following treatment. Moreover, apoptosis and cell cycle processes were both significantly influenced by drug treatment in the sample of younger brother (Y2), implying their potential association with the pathogenesis of childhood PMF. Gene mutations in JAK2, MPL, or CALR were not observed; however, mutations in genes including SRSF2 and SF3B1 occurred in this twin pair with childhood PMF. Gene fusion events were extensively screened in the twin pair samples and the occurrence of IGLV2-14-IGLL5 gene fusion was confirmed. The current study reported at transcriptomic level the different responses of monozygotic twin brothers with childhood PMF to the same androgen/prednisone treatment regimen providing new insights into the potential pathogenesis of childhood PMF for further research and clinical applications.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Transcriptome Analysis of Monozygotic Twin Brothers with Childhood Primary Myelofibrosis

Ding

Zhang

Yang

et al. 2017

Genomics, Proteomics &Amp; Bioinformatics

View full text Add to dashboard Cite

show abstract

“…Primary myelofibrosis (PMF) is a classic myeloproliferative neoplasm (MPN), characterized by the appearance of diffuse fibrous tissue in the bone marrow, increased numbers of myeloid cells, extramedullary hematopoiesis, organomegaly, pancytopenia and an altered cytokine expression profile (1)(2)(3)(4). PMF comprises chronic and acute PMF (CPMF and APMF, respectively), according to the type of onset.…”

Section: Introductionmentioning

confidence: 99%

“…PMF predominantly occurs in patients aged >50 years. However, half of the children with PMF are diagnosed at <3 years old (1). Familial PMF cases account for ~7.6% of chronic myeloproliferative disorders (11).…”

Section: Introductionmentioning

confidence: 99%