Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.
Shwachman-Diamond syndrome
congenital neutropenia
solid cancer
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
17
03
2021
received:
14
10
2020
accepted:
05
04
2021
pubmed:
20
4
2021
medline:
7
1
2022
entrez:
19
4
2021
Statut:
ppublish
Résumé
Shwachman-Diamond syndrome with Shwachman-Bodian-Diamond syndrome (SBDS) biallelic variants is a rare disorder that predisposes the carrier to malignant hemopathies but solid-cancer predisposition is poorly known. Among 155 cases entered in the French Registry for Severe Chronic Neutropenia, three were identified with malignant solid tumors (ovary, breast, and esophagus). All cancers occurred during the fifth decade and, despite being localized at diagnosis, were rapidly fatal thereafter. No cancer was observed post transplantation in the 14 HSCT survivors. Based on the literature and our patient data, we can merely advance that this complication is predominantly diagnosed in adults.
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e29071Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Warren AJ. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. Adv Biol Regul. 2018;67:109-127.
Cesaro S, Pegoraro A, Sainati L, et al. A prospective study of hematologic complications and long-term survival of Italian patients affected by Shwachman-Diamond syndrome. J Pediatr. 2020;219:196-201.
Donadieu J, Fenneteau O, Beaupain B, et al. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica. 2012;97:1312-1319.
Myers KC, Furutani E, Weller E, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020;7:e238-e246.
Xia J, Miller CA, Baty J, et al. Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018;131:408-416.
Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103:30-39.
Singh SA, Vlachos A, Morgenstern NJ, et al. Breast cancer in a case of Shwachman Diamond syndrome. Pediatr Blood Cancer. 2012;59:945-946.
Sack JE, Kuchnir L, Demierre MF. Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome. Pediatr Dermatol. 2011;28:568-569.
Dhanraj S, Manji A, Pinto D, et al. Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2013;60:754-760.
Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011;1242:40-55.
Masserot C, Peffault de LR, Rocha V, et al. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer. 2008;113:3315-3322.
Donadieu J, Delhommeau F. TP53 mutations: the dawn of Shwachman clones. Blood. 2018;131:376-377.
Goh AM, Coffill CR, Lane DP. The role of mutant p53 in human cancer. J Pathol. 2011;223:116-126.
Golomb L, Volarevic S, Oren M.p53 and ribosome biogenesis stress: the essentials. FEBS Lett. 2014;588:2571-2579.
Green JA, Von EM, Abrahmsen LB. Restoration of conformation of mutant p53. Ann Oncol. 2018;29:1325-1328.