Myelodysplastic syndrome with multilineage dysplasia evolving to acute myeloid leukemia: Noonan syndrome with c.218C&gt;T mutation in <i>PTPN11</i> gene

Shenoy, Rajgopal; Yeshvanth, Sunil Kumar; L, Harsha Prasada; Shenoy, Vijaya; Shetty, Vikram

doi:10.1002/pbc.27527

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…Patients with Noonan syndrome are known to be at risk for the development of thrombocytopenia and juvenile myelomonocytic leukemia (JMML); however, reports of myelodysplastic disorders are rare. [1][2][3] At 32 weeks gestation, our patient was noted to have intrauterine growth restriction, hydrops, and fetal distress. She was born at 34 weeks gestation and required mechanical ventilation and bilateral chest tubes due to a large chylothorax.…”

Section: E T T E R T O T H E E D I T O R a Case Report Of Myelodyspla...mentioning

confidence: 81%

A case report of myelodysplastic syndrome in a patient with PTPN11‐related Noonan syndrome

Wiedl,

Bornhorst,

Cheng

et al. 2024

Pediatric Blood & Cancer

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transformation to AML, 11,12 suggesting she may have been at risk for MDS because of her Noonan syndrome. However, given the rareness of this association, the MDS may also be an unrelated sporadic occurrence triggered by the gain of RUNX1, prior eltrombopag therapy, or less likely, an unreported complication of trametinib therapy.Our case demonstrated an unusual presentation of MDS and reminds clinicians of the importance of monitoring for all blood dyscrasias in patients with Noonan syndrome.

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Section: E T T E R T O T H E E D I T O R a Case Report Of Myelodyspla...mentioning

confidence: 81%

A case report of myelodysplastic syndrome in a patient with PTPN11‐related Noonan syndrome

Wiedl,

Bornhorst,

Cheng

et al. 2024

Pediatric Blood & Cancer

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“…In the literature, a case reported by Shenoy et al with myelodysplastic syndrome and transformation into AML with consecutive stem cell transplantation can also be found (Shenoy et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

Schönfeld

Selig

Russo

et al. 2020

Molec Gen & Gen Med

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BackgroundNonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in question was delivered via emergency cesarean at 30 + 1 weeks of gestational age (GA) due to rapidly developing NIHF to a healthy mother. The family history was noncontributory.MethodsDNA of the family was extracted and sequenced by the virtual hydrops panel with whole‐exome sequencing.ResultsThe hydrops panel revealed Noonan syndrome (NS) with a germline mutation in PTPN11 c.218C>T (p.Thr73Ile).ConclusionThe diagnosis of our patient was rapidly confirmed by the hydrops panel. The variant of c.218C>T (p.Thr73Ile) has not yet been described in literature relating to NIHF. Only a few case reports of this variant are known. This particular mutation is associated with Noonan syndrome, congenital heart defect and persistent thrombocytopenia. Few reveal juvenile myelomonocytic leukemia.

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Clinical characteristics and prognostic analysis of acute myeloid leukemia patients with PTPN11 mutations

et al. 2022

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Myelodysplastic syndrome with multilineage dysplasia evolving to acute myeloid leukemia: Noonan syndrome with c.218C>T mutation in PTPN11 gene

Cited by 4 publications

References 11 publications

A case report of myelodysplastic syndrome in a patient with PTPN11‐related Noonan syndrome

A case report of myelodysplastic syndrome in a patient with PTPN11‐related Noonan syndrome

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

Clinical characteristics and prognostic analysis of acute myeloid leukemia patients with PTPN11 mutations

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