Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome: two case reports

Journal of Medical Case Reports
Fernando Barroso DuartePaulo Roberto Leitão de Vasconcelos

Abstract

Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute myeloid leukemia. In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis. In the present study, two mutations in this gene are presented and discussed with the clinical evolution of the patients. The first case is a 77-year-old Brazilian woman diagnosed as having multiple lineage dysplasia myelodysplastic syndrome according to World Health Organization 2016 and classified as very low-risk by Revised International Prognostic Scoring. The second case is an 80-year-old Brazilian man also diagnosed as having multiple lineage dysplasia myelodysplastic syndrome and classified as low risk. The mutation described in the first case was already identified in some neoplasias and it is associated with a poor prognosis, but it had never been reported before in myelodysplastic syndrome. The second mutation has never been described. This is a novel report for the scientific community and may be very helpful as we can better understand...Continue Reading

References

Dec 24, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Matteo Giovanni Della PortaMario Cazzola
Jan 20, 2009·Leukemia·H SeifertUNKNOWN Study Alliance Leukemia (SAL)
Dec 17, 2014·Advances in Biological Regulation·Suresh C Jhanwar

❮ Previous
Next ❯

Methods Mentioned

BETA
MDS
PCR
biopsy

Software Mentioned

Mutation Surveyor (
SoftGenetics )

Related Concepts

Related Feeds

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease with approximately 20,000 cases per year in the United States. AML also accounts for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. Here is the latest research on this disease.

AML: Role of LSD1 by CRISPR (Keystone)

Find the latest rersearrch on the ability of CRISPR-Cas9 mutagenesis to profile the interactions between lysine-specific histone demethylase 1 (LSD1) and chemical inhibitors in the context of acute myeloid leukemia (AML) here.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.