Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.
Noonan
PTPN11
ganglioneuroma
neoplasia
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
revised:
05
01
2021
received:
20
11
2020
accepted:
20
02
2021
pubmed:
30
3
2021
medline:
2
9
2021
entrez:
29
3
2021
Statut:
ppublish
Résumé
Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Gain-of-function variants in PTPN11 are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features, cardiac abnormalities, and multiple lentigines, strongly suspicious for NS. Solid tumor testing identified the recurrent pathogenic c.922G>A (p.Asn308Asp) in PTPN11. Proband and parental blood sampling testing confirmed c.922G>A as a de novo germline alteration. Comprehensive literature review of solid tumors specifically associated to PTPN11, indicates that this is the first documentation of ganglioneuroma and its clinical recurrence after resection in conjunction with a genetically confirmed NS diagnosis. The findings in our patient further extend the list of neuroblastic and neural crest-derived neoplasms associated with this condition.
Identifiants
pubmed: 33779033
doi: 10.1002/ajmg.a.62178
doi:
Substances chimiques
PTPN11 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 11
EC 3.1.3.48
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1883-1887Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Boonyawat, B., Charoenpitakchai, M., & Suwanpakdee, P. (2019). A first case report of subependymoma in PTPN11 mutation-associated Noonan syndrome. Case Reports in Neurological Medicine, 2019, 6091059. https://doi.org/10.1155/2019/6091059
Chantrain, C. F., Jijon, P., De Raedt, T., Vermylen, C., Poirel, H. A., Legius, E., & Brichard, B. (2007). Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation. Pediatric Blood & Cancer, 48(1), 101-104. https://doi.org/10.1002/pbc.20527
Decarolis, B., Simon, T., Krug, B., Leuschner, I., Vokuhl, C., Kaatsch, P., von Schweinitz, D., Klingebiel, T., Mueller, I., Schweigerer, L., Berthold, F., & Hero, B. (2016). Treatment and outcome of ganglioneuroma and ganglioneuroblastoma intermixed. BMC Cancer, 16, 542. https://doi.org/10.1186/s12885-016-2513-9
Dunnett-Kane, V., Burkitt-Wright, E., Blackhall, F. H., Malliri, A., Evans, D. G., & Lindsay, C. R. (2020). Germline and sporadic cancers driven by the RAS pathway: Parallels and contrasts. Annals of Oncology, 31(7), 873-883. https://doi.org/10.1016/j.annonc.2020.03.291
El Bouchikhi, I., Belhassan, K., Moufid, F. Z., Iraqui Houssaini, M., Bouguenouch, L., Samri, I., Lyonnet, S., Parfait, B., Tauber, M., Salles, J. P., Lezoualc'h, F., Yart, A., & Ouldim, K. (2016). Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate. International Journal of Pediatrics and Adolescent Medicine, 3(4), 133-142. https://doi.org/10.1016/j.ijpam.2016.06.003
El-Ayadi, M., Ansari, M., Kuhnol, C. D., Bendel, A., Sturm, D., Pietsch, T., Kramm, C. M., & von Bueren, A. O. (2019). Occurrence of high-grade glioma in Noonan syndrome: Report of two cases. Pediatrics Blood Cancer, 66(5), e27625. https://doi.org/10.1002/pbc.27625
Eleveld, T. F., Oldridge, D. A., Bernard, V., Koster, J., Colmet Daage, L., Diskin, S. J., Schild, L., Bentahar, N. B., Bellini, A., Chicard, M., Lapouble, E., Combaret, V., Legoix-Né, P., Michon, J., Pugh, T. J., Hart, L. S., Rader, J., Attiyeh, E. F., Wei, J. S., … Maris, J. M. (2015). Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. Nature Genetics, 47(8), 864-871. https://doi.org/10.1038/ng.3333
Fragale, A., Tartaglia, M., Wu, J., & Gelb, B. D. (2004). Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Human Mutation, 23(3), 267-277. https://doi.org/10.1002/humu.20005
Jongmans, M. C., van der Burgt, I., Hoogerbrugge, P. M., Noordam, K., Yntema, H. G., Nillesen, W. M., Jongmans, M. C., van der Burgt, I., Hoogerbrugge, P. M., Noordam, K., Yntema, H. G., Nillesen, W. M., Kuiper, R. P., Ligtenberg, M. J., van Kessel, A. G., van Krieken, J. H., Kiemeney, L. A., & Hoogerbrugge, N. (2011). Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. European Journal of Human Genetics, 19(8), 870-874. https://doi.org/10.1038/ejhg.2011.37
Kollurage, U., & Atapattu, N. (2019). Asymptomatic ganglioneuromas in a 13 year old girl with Noonan syndrome. Sri Lanka Journal of Child Health, 48(1), 71-73. https://doi.org/10.4038/sljch.v48i1.8656
Li, X., Yao, R., Tan, X., Li, N., Ding, Y., Li, J., Chang, G., Chen, Y., Ma, L., Wang, J., Fu, L., & Wang, X. (2019). Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clinical Genetics, 96(4), 290-299. https://doi.org/10.1111/cge.13588
Rankin, J., Short, J., Turnpenny, P., Castle, B., & Hanemann, C. O. (2013). Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. American Journal of Medical Genetics-Part A, 161A(8), 2027-2029. https://doi.org/10.1002/ajmg.a.36005
Sweetser, D. A., Kapur, R. P., Froelick, G. J., Kafer, K. E., & Palmiter, R. D. (1997). Oncogenesis and altered differentiation induced by activated Ras in neuroblasts of transgenic mice. Oncogene, 15(23), 2783-2794. https://doi.org/10.1038/sj.onc.1201452
Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., Kucherlapati, R. S., & Gelb, B. D. (2001). Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics, 29(4), 465-468. https://doi.org/10.1038/ng772
Xu, T., Zhu, W., & Wang, P. (2019). Cervical ganglioneuroma: A case report and review of the literature. Medicine, 98(15), e15203. https://doi.org/10.1097/MD.0000000000015203