Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review
Fares Bou Mitri
Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France
Search for more papers by this authorBlandine Beaupain
Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France
Search for more papers by this authorJean-François Flejou
Department of Pathology, Saint-Antoine Hospital, APHP, Paris, France
Search for more papers by this authorMatthieu Patient
Department of Hematology and Oncology, Hôpital d'Instruction des Armées (HIA) Sainte-Anne, Toulon, France
Search for more papers by this authorIlona Okhremchuck
Department of Pathology, HIA Sainte-Anne, Toulon, France
Search for more papers by this authorDidier Blaise
Department of Hematology, Paoli-Calmettes Institut, Marseille, France
Search for more papers by this authorFaézeh Izadifar-Legrand
Department of Hematology, Paoli-Calmettes Institut, Marseille, France
Search for more papers by this authorJean Alain Martignoles
Inserm, Centre de Recherche Saint-Antoine, Hématologie Biologique, Hôpital Saint-Antoine, APHP, Sorbonne Université, Paris, France
Search for more papers by this authorFrançois Delhommeau
Inserm, Centre de Recherche Saint-Antoine, Hématologie Biologique, Hôpital Saint-Antoine, APHP, Sorbonne Université, Paris, France
Search for more papers by this authorChristine Bellanne-Chantelot
Department of Genetics, Pitié–Salpêtrière Hospital, APHP, Sorbonne University, Paris, France
Search for more papers by this authorJean-François Emile
Department of Pathology, Ambroise-Paré Hospital, APHP, Boulogne, France
Search for more papers by this authorCorresponding Author
Jean Donadieu
Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France
Correspondence
Jean Donadieu, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, 26, avenue du Dr Arnold-Netter, 75571 Paris Cedex 12, France.
Email: [email protected]
Search for more papers by this authorFares Bou Mitri
Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France
Search for more papers by this authorBlandine Beaupain
Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France
Search for more papers by this authorJean-François Flejou
Department of Pathology, Saint-Antoine Hospital, APHP, Paris, France
Search for more papers by this authorMatthieu Patient
Department of Hematology and Oncology, Hôpital d'Instruction des Armées (HIA) Sainte-Anne, Toulon, France
Search for more papers by this authorIlona Okhremchuck
Department of Pathology, HIA Sainte-Anne, Toulon, France
Search for more papers by this authorDidier Blaise
Department of Hematology, Paoli-Calmettes Institut, Marseille, France
Search for more papers by this authorFaézeh Izadifar-Legrand
Department of Hematology, Paoli-Calmettes Institut, Marseille, France
Search for more papers by this authorJean Alain Martignoles
Inserm, Centre de Recherche Saint-Antoine, Hématologie Biologique, Hôpital Saint-Antoine, APHP, Sorbonne Université, Paris, France
Search for more papers by this authorFrançois Delhommeau
Inserm, Centre de Recherche Saint-Antoine, Hématologie Biologique, Hôpital Saint-Antoine, APHP, Sorbonne Université, Paris, France
Search for more papers by this authorChristine Bellanne-Chantelot
Department of Genetics, Pitié–Salpêtrière Hospital, APHP, Sorbonne University, Paris, France
Search for more papers by this authorJean-François Emile
Department of Pathology, Ambroise-Paré Hospital, APHP, Boulogne, France
Search for more papers by this authorCorresponding Author
Jean Donadieu
Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France
Correspondence
Jean Donadieu, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, 26, avenue du Dr Arnold-Netter, 75571 Paris Cedex 12, France.
Email: [email protected]
Search for more papers by this authorAbstract
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.
CONFLICTS OF INTEREST
The authors declare that there is no conflict of interest.
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