Acute Myeloid Leukemia with Philadelphia Chromosome, Near-tetraploidy, and 5q Deletion

Abstract Based on immune mechanisms that appear to play an important role in the pathophysiology of at least part of the lower-risk myelodysplastic syndrome (MDS), the immunomodulating drug (IMID) thalidomide and its derivative lenalidomide (LEN) have been used in MDS, principally in lower-risk MDS. LEN has become the first-line US Food and Drug Administration (FDA)–approved treatment for lower-risk MDS with 5q deletion (del5q), in which its main mechanism of action is probably a direct cytotoxic activity on the del5q clone. This possibly specific effect is currently being investigated in higher-risk MDS—and even acute myeloid leukemia (AML)—with del5q, but LEN has also demonstrated some efficacy in MDS and AML without del5q. Thalidomide also has some activity in lower-risk MDS without del5q, but its side effects limit its practical use in these patients.

Download Full-text

A Case of Philadelphia Chromosome-Positive Acute Myeloid Leukemia (Ph+AML) of Primary Drug Resistance and Relevant Literature Review

World Journal of Cancer Research ◽

10.12677/wjcr.2021.114016 ◽

2021 ◽

Vol 11 (04) ◽

pp. 121-125

Author(s):

梦莹王

Keyword(s):

Drug Resistance ◽

Acute Myeloid Leukemia ◽

Literature Review ◽

Myeloid Leukemia ◽

Relevant Literature ◽

Philadelphia Chromosome ◽

Primary Drug Resistance ◽

Primary Drug ◽

Acute Myeloid ◽

Philadelphia Chromosome Positive

Download Full-text

Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome

Blood ◽

10.1182/blood.v82.9.2611.2611 ◽

1993 ◽

Vol 82 (9) ◽

pp. 2611-2616 ◽

Cited By ~ 46

Author(s):

J Boultwood ◽

C Fidler ◽

S Lewis ◽

A MacCarthy ◽

H Sheridan ◽

...

Keyword(s):

Acute Myeloid Leukemia ◽

Myeloid Leukemia ◽

Gene Dosage ◽

Structural Rearrangement ◽

Suppressor Gene ◽

Allelic Loss ◽

Chromosome 5 ◽

Putative Tumor Suppressor Gene ◽

5Q Deletion ◽

Acute Myeloid

Abstract Acquired interstitial deletions of the long arm of chromosome 5 occur frequently in the myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Recently IRF1, a putative tumor suppressor gene localized to the long arm of chromosome 5, has been shown to be deleted from the 5q- chromosome in a group of patients with MDS and AML. It has been suggested that the loss of IRF1 may be critical to the development of the 5q- syndrome. We have investigated the allelic loss of IRF1 in a group of 12 patients with MDS and a 5q deletion and 2 patients with AML and a 5q deletion. Gene dosage experiments demonstrated that 12 of 14 patients had loss of one allele of the IRF1 gene but no evidence of homozygous loss and that 2 patients with 5q- syndrome retained both copies of the gene. The retention of IRF1 on the 5q- chromosome in these two cases has been confirmed by fluorescent in situ hybridization localization using an IRF1 cosmid. Pulsed field gel electrophoresis was used to determine whether there was any evidence for structural rearrangement in the region encompassing the IRF1 gene in these two patients. No aberrant bands were detected with a range of rare cutter enzyme digests. We conclude that IRF1 maps outside the commonly deleted segment of the 5q- chromosome and that loss of IRF1 is not solely responsible for the development of the 5q- syndrome.

Download Full-text