|Table of Contents|

Allogeneic hematopoietic stem cell transplantation for myeloid malignancies secondary to Shwachman-Diamond syndrome with TP53 mutation:A case report and literature review

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2024 20
Page:
3926-3931
Research Field:
Publishing date:

Info

Title:
Allogeneic hematopoietic stem cell transplantation for myeloid malignancies secondary to Shwachman-Diamond syndrome with TP53 mutation:A case report and literature review
Author(s):
MA Cuiping1; 2; CHEN Yuhan3; LANG Haiyan2; YANG Lu2; WANG Chong2; HAN Lizhen2; CHEN Xinyi2; MA Wei2
1.The First Clinical Medical College of Beijing University of Traditional Chinese Medicine,Beijing 100029,China;2.Dongzhimen Hospital，Beijing University of Chinese Medicine,Beijing 100700,China;3.Shenzhen Luohu District Hospital of Traditional Chinese Medicine,Guangdong Shenzhen 518009,China.
Keywords:
Shwachman-Diamond syndrome; myeloid malignancies; TP53 mutation; Allo-HSCT; treatment; prognosis
PACS:
R733
DOI:
10.3969/j.issn.1672-4992.2024.20.020
Abstract:
Objective:To investigate the case characteristics and treatment of Shwachman-Diamond syndrome (SDS) patients with TP53 mutation and myeloid malignancies transformation,and to improve the understanding of the disease.Methods:By searching the relevant literature on SDS patients with TP53 mutation combined with myeloid malignancies transformation in CNKI,PubMed,Web of Science and Embase databases,the case characteristics,treatment process and prognosis of such patients were summarized.The diagnosis and treatment process of a SDS patient diagnosed as TP53 mutation combined with AML-MR were analyzed.Results:The hematological system of this case of SDS was mainly characterized by pancytopenia.With the increase of age,myelodysplastic syndrome (MDS) transformation occurred and eventually progressed to AML-MR.Somatic cell-acquired TP53 mutation may be the driving factor for its malignant transformation of myeloid system.Allogeneic hematopoietic stem cell transplantation (Allo-HSCT) is the only cure for this type of patient.In this case,the patient chose Azacitidine (AZA) combined with Veneolax (VEN) for bridging and timely control of disease progression before transplantation.The low-intensity bone marrow pre-treatment regimen improved prognosis and resulted in good postoperative recovery.However,one year after transplantation,the patient passed away due to rapid disease progression.The 10 cases of similar patients who have been transplanted have not achieved good curative effect and prognosis.Conclusion:TP53 mutation is an early driver of myeloid malignancies transformation in this case of SDS,and may also play a driving role in late progression.Choosing the appropriate treatment before and after Allo-HSCT may be a potential way to improve the prognosis of SDS patients with TP53 mutation and myeloid malignancies transformation.In addition,improving the understanding of the disease and timely monitoring,transplantation before malignant transformation can greatly improve the prognosis of the disease.

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