Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Nov 15;132(20):2205-2208.
doi: 10.1182/blood-2018-05-848937. Epub 2018 Sep 28.

Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia

Adrianna Vlachos  1   2   3 , Philip S Rosenberg  4 , Eva Atsidaftos  1   2 , Jessica Kang  2 , Kenan Onel  1   2   3   5 , Ravi N Sharaf  3   6 , Blanche P Alter  7 , Jeffrey M Lipton  1   2   3
Affiliations

Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia

Adrianna Vlachos et al. Blood. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Figures

Figure 1.
Figure 1.
Cumulative incidence, annual hazard rate of competing adverse events by age, and RP germline mutations in patients with cancer. (A) By age 30 years, no patients had developed AML, 3% had a ST, 20% had undergone a HSCT, and 13% had died. By age 45 years, 2% had developed AML, 12% had a ST, 24% had undergone a HSCT, and 23% had died of complications of stem cell transplantation (n = 25), iron overload (n = 18), infection/sepsis (n = 12), gastrointestinal cancer (n = 7), AML (n = 3), pulmonary embolism (n = 3), stroke (n = 2), or aplastic anemia (n = 2). The overall cumulative incidence of cancer (excluding MDS) was 13.7% by age 45 years. (B) Cause-specific hazard rates were as follows: HSCT or severe bone marrow failure occurred at a peak rate of just over 1% per year; deaths from complications of DBA began rising at age 20 years, peaking at almost 2% at 30 years of age; the rate of AML slowly increased beginning at age 40 years; and the rate of STs rapidly increased beginning at age 30 years. (C) DBA germline mutations in patients with cancer/MDS. Twenty of 39 patients with cancer/MDS had an RP gene mutation identified. The relative distribution of DBA in those with cancer genotyped was similar to that reported in the general DBA population with the most common genotypes represented. Due to the availability of only limited genetic testing in earlier patients who had died prior to mutation testing or could not undergo additional complete genetic testing, there were 49% with an unknown genotype. The general DBA population in the DBAR was genotyped (n = 214) as follows: RPS19 (45%), RPL5 (13%), RPS26 (11%), RPL11 (7%), RPL35A (7%), and RPS17 (5%). The significance, if any, of the absence of germline mutations in RPS26 in the cancer cohort is unknown at this time.
See this image and copyright information in PMC

Comment on

  • Vlachos

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Nepal M, Che R, Zhang J, Ma C, Fei P. Fanconi Anemia Signaling and Cancer. Trends Cancer. 2017;3(12):840-856. - PMC - PubMed
    1. Vlachos A, Blanc L, Lipton JM. Diamond Blackfan anemia: a model for the translational approach to understanding human disease. Expert Rev Hematol. 2014;7(3):359-372. - PubMed
    1. Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood. 2012;119(16):3815-3819. - PMC - PubMed
    1. Vlachos A, Klein GW, Lipton JM. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol. 2001;23(6):377-382. - PubMed
    1. Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2006;46(5):558-564. - PubMed

Publication types