To investigate the clinical and genetic characteristics of a case of myelodysplastic syndrome(MDS) secondary to Shwachman-Diamond syndrome(SDS).

The clinical data of a child with SDS admitted to the Department of Pediatric Hematology, Affiliated Hospital of Jining Medical University on July 31, 2020 were retrospectively analyzed. The clinical and genetic characteristics of children with SDS were summarized, and the literature was reviewed to generalize the progress in diagnosis and treatment for SDS.

The child was 13 years old and developed steatorrhea 2 months after birth. The child exhibited delayed growth and development in height and weight, with excessive curvature of the fingers. Following child health follow-up and multiple physical examinations, red blood cells, white blood cells, and platelets of blood routine were normal. On December 4, 2019, the patient was treated for fever, and the blood routine showed that red blood cells, white blood cells, and platelets were reduced. Further bone marrow puncture examination showed reduced hyperplasia of granulocytes, red blood cells, and giant cells. Bone marrow immunophenotype showed that the proportion of bone marrow original cells was 2.70%, the expression of CD38 was weakened, and the phenotype was abnormal. The proportion of granulocytes was significantly decreased, mainly composed of mature granulocytes. No abnormal expression was found in erythrocyte, monocyte and lymphocyte. No treatment was given, and subsequent irregular reexamination of blood routine showed that red blood cells, white blood cells, and platelets were reduced. On July 31, 2020, the child was re-admitted due to persistent fever and hemocytopenia, and further genetic testing revealed 2 mutations in the SBDS gene: NM-016038.4: exon2: c. 258+ 2 T>C splice site mutation and NM-016038.4: exon2: c. 184 A>T nonsense mutation. Considering the clinical manifestations since birth, the child was definitely diagnosed with SDS. Subsequent bone marrow smear cytology showed that the blast cells accounted for 11.50%. Combined with bone marrow flow cytometry, bone marrow biopsy and immunohistochemistry, secondary MDS were considered, and the TP53 gene mutation rate was 4.10%. On April 11, 2021, the patient underwent a hematopoietic stem cell transplant from an unrelated donor and experienced a short period of remission. However, the patient relapsed 10 months after transplant and eventually died due to total bone marrow recurrence, secondary infection, and bleeding.

Patients with SDS require close monitoring for bone marrow conditions, and hematopoietic stem cell transplantation should be performed as soon as possible after a definite diagnosis, and TP53 gene mutation indicates poor prognosis.