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CASE REPORT
Reversal of isolated 20q deletion with vitamin B12 replacement in a patient with pernicious anaemia
  1. Shashank Reddy Cingam1,
  2. Nebu Koshy1,2,
  3. Diana Veillon3,
  4. Prakash Peddi1,2
  1. 1Department of Internal Medicine, Louisiana State University Health Sciences Center- Shreveport, LA, USA
  2. 2Division of Hematology and Oncology, Louisiana State University Health Sciences Center-Shreveport, LA, USA
  3. 3Department of Pathology, Louisiana State University Health Sciences Center-Shreveport, LA, USA
  1. Correspondence to Dr Prakash Peddi; ppeddi{at}lsuhsc.edu

Summary

Severe vitamin B12 deficiency is well known to cause morphological alterations in bone marrow. In rare instances, these myelodysplastic and megaloblastic changes can coexist with cytogenetic abnormalities. Here, we report a case of a 38-year-old African-American woman with pernicious anaemia, who was found to have an isolated 20q deletion and which resolved after vitamin B12 replacement. We also discuss various mechanisms in which vitamin B12 deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B12 deficiency.

https://doi.org/10.1136/bcr-2016-218689

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    Footnotes

    • Contributors SRC, DV and PP contributed to data collection. SRC and PP are responsible for drafting the article. PP, SRC and NK are responsible for critical revision of the article. All authors are responsible for final approval of the version to be published.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.