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Shwachman–Diamond syndrome and solid tumors: 3 new patients from the French severe chronic neutropenia registry and literature review
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  • Fares BOU MITRI,
  • Blandine BEAUPAIN,
  • Jean-Francois FLEJOU,
  • Matthieu PATIENT,
  • Ilona OKHREMCHUCK,
  • Didier BLAISE,
  • Faézeh IZADIFAR-LEGRAND,
  • Jean-Alain MARTIGNOLES,
  • Francois DELHOMMEAU,
  • Christine Bellanné-Chantelot,
  • Jean-Francois EMILE,
  • Jean Donadieu
Fares BOU MITRI
Armand-Trousseau Childrens Hospital
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Blandine BEAUPAIN
Armand-Trousseau Childrens Hospital
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Jean-Francois FLEJOU
Hôpital Saint-Antoine
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Matthieu PATIENT
HIA Sainte Anne
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Ilona OKHREMCHUCK
HIA Sainte Anne
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Didier BLAISE
Paoli-Calmettes Institute
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Faézeh IZADIFAR-LEGRAND
Paoli-Calmettes Institute
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Jean-Alain MARTIGNOLES
Hospital Saint-Antoine
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Francois DELHOMMEAU
Hospital Saint-Antoine
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Christine Bellanné-Chantelot
Hopital Universitaire Pitie Salpetriere
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Jean-Francois EMILE
Ambroise Pare Hospital Group
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Jean Donadieu
CHU Trousseau
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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.

Peer review status:ACCEPTED

08 Oct 2020Submission Checks Completed
08 Oct 2020Assigned to Editor
08 Oct 2020Submitted to Pediatric Blood & Cancer
15 Oct 2020Reviewer(s) Assigned
02 Nov 2020Review(s) Completed, Editorial Evaluation Pending
04 Nov 2020Editorial Decision: Revise Major
20 Jan 2021Submission Checks Completed
20 Jan 2021Assigned to Editor
20 Jan 20211st Revision Received
18 Mar 2021Reviewer(s) Assigned
05 Apr 2021Review(s) Completed, Editorial Evaluation Pending
06 Apr 2021Editorial Decision: Accept