Shwachman–Diamond syndrome and solid tumors: 3 new patients from the
French severe chronic neutropenia registry and literature review
Abstract
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 Severe Chronic
Neutropenia Registry, three were identified original with malignant
solid tumors (ovary, breast and esophagus). All cancers occurred in the
fifth decade and, despite being at localized stages at diagnosis, they
were rapidly fatal thereafter. No cancer was observed in the 14 HSCT
survivors post transplantation. Based on our experience and the
literature, age >40 years was the only apparent risk
factor.