Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review

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.

Automated summary

Shwachman-Diamond syndrome with Shwachman-Bodian-Diamond syndrome (SBDS) biallelic variants is a rare disorder that predisposes carriers to malignant hemopathies, with limited understanding of solid-cancer predisposition. Solid tumors were identified in three out of 155 cases in the French Registry for Severe Chronic Neutropenia, occurring predominantly in adults during the fifth decade and resulting in rapid fatal outcomes despite localized diagnosis. No cancers were observed post transplantation in the 14 HSCT survivors, indicating a potential link between the syndrome and solid cancer development in adults.