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Shwachman‐Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review
Author(s) -
Bou Mitri Fares,
Beaupain Blandine,
Flejou JeanFrançois,
Patient Matthieu,
Okhremchuck Ilona,
Blaise Didier,
IzadifarLegrand Faézeh,
Martignoles Jean Alain,
Delhommeau François,
BellanneChantelot Christine,
Emile JeanFrançois,
Donadieu Jean
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29071
Subject(s) - medicine , neutropenia , complication , cancer , transplantation , pediatrics , chemotherapy
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.