Juvenile myelomonocytic leukaemia and Noonan syndrome

Strullu, Marion; Caye, Aurélie; Lachenaud, Julie; Cassinat, Bruno; Gazal, Steven; Fenneteau, Odile; Pouvreau, Nathalie; Pereira, Sabrina Bernárdez; Baumann, Clarisse; Contet, Audrey; Sirvent, Nicolas; Méchinaud, Françoise; Guellec, Isabelle; Adjaoud, Dalila; Paillard, Catherine; Alberti, Corinne; Zenker, Martin; Chomienne, Christine; Bertrand, Yves; Baruchel, André; Verloès, Alain; Cavé, Hélène

doi:10.1136/jmedgenet-2014-102611

Cited by 117 publications

(131 citation statements)

References 35 publications

(45 reference statements)

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“…JMML/MPD is observed in 5.6% of patients with NS associated with germline PTPN11 mutations, which may regress spontaneously or follow an aggressive clinical course 16, 17. p.Thr73Ile is associated with JMML/MPD in individuals with NS 20, 21.…”

Section: Discussionmentioning

confidence: 99%

“…p.Thr73Ile is associated with JMML/MPD in individuals with NS 20, 21. The prognosis of patients with NS associated with JMML is much worse than those with MPD who do not fully meet the diagnostic criteria for JMML (a two‐year overall survival rate, 40% vs 100%) 17. Therefore, differentiating those who follow a fatal clinical course from those who follow good clinical course in children with NS is important.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, 22 patients with NS with p.Thr42Ala have been reported in literature (Table 1). 12, 13, 15, 17, 21, 25, 26, 27, 28, 29, 30, 31, 32 However, data were limited because of the lack of a detailed description of their clinical features (Table 1). Among these reported patients with NS with p.Thr42Ala mutation in PTPN11 , ASD or atrioventricular canal defect (AVCD) were reported in six patients (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…However, HCM and MPD were described only in two patients each; furthermore, the co‐occurrence of HCM and JMML/MPD has not been reported (Table 1). 15, 17, 25 Two patients with NS with p.Thr42Ala mutation presenting with MPD during the neonatal period were alive for 3.9 and 4 years without treatment, respectively (Table 1). 17 However, HCM was not described in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…HCM is associated with mutations in exons 7 and 12 of PTPN11 14, 15. Myeloproliferative disease (MPD) and juvenile myelomonocytic leukemia (JMML) are other relatively common manifestations of patients with NS with germline PTPN11 mutations 16, 17…”

Section: Introductionmentioning

confidence: 99%

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Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

Tamura

Uemura

Matsubara

et al. 2018

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

Tamura

Uemura

Matsubara

et al. 2018

Clinical Case Reports

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Neonatal infection and leucocyte disorders

2022

Neonatal Haematology

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Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature

Siegfried

Cancés

Denuelle

et al. 2017

American J of Med Genetics Pt A

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Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus. He developed epilepsy 2 years later. The temporal tumor was surgically resected because of increasing crises and worsening radiological signs. Microscopy showed nodules with specific glioneuronal elements or glial nodules, leading to the diagnosis of dysembryoplastic neuroepithelial tumor (DNT). Immunohistochemistry revealed positive nuclear staining with Olig2 and pERK in small cells. SHP2 plays a key role in RAS/MAPK pathway signaling which controls several developmental cell processes and oncogenesis. An amino-acid substitution in the N-terminal SHP2 domain disrupts the self-locking conformation and leads to ERK activation. Glioneuronal tumors including DNTs and pilocytic astrocytomas have been described in NS. This report provides further support for the relation of DNTs with RASopathies and for the implication of RAS/MAPK pathways in sporadic low-grade glial tumors including DNTs. © 2017 Wiley Periodicals, Inc.

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Juvenile myelomonocytic leukaemia and Noonan syndrome

Cited by 117 publications

References 35 publications

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

Neonatal infection and leucocyte disorders

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature

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