# Co-occurrence of High-Risk Myelodysplastic Syndrome With a Complex Karyotype/TP53 Mutation and IgG Lambda Monoclonal Gammopathy of Undetermined Significance

**Authors:** Marwa Mir, Wajeeha Aiman, Esther Baah, Gunwant Guron, Hamid Shaaban

PMC · DOI: 10.7759/cureus.58451 · Cureus · 2024-04-17

## TL;DR

A rare case of high-risk myelodysplastic syndrome with a complex karyotype and TP53 mutation co-occurring with IgG lambda MGUS is reported in a 74-year-old woman.

## Contribution

This case highlights the rare co-occurrence of high-risk MDS with TP53 mutation and MGUS, emphasizing the need for further research into management strategies.

## Key findings

- The patient had high-risk MDS with a complex karyotype and TP53 mutation.
- IgG lambda MGUS was diagnosed alongside the MDS.
- The case emphasizes the need for aggressive interventions like stem cell transplantation.

## Abstract

Myelodysplastic syndrome (MDS) represents a group of hematologic disorders marked by abnormal cellular development in the bone marrow, while monoclonal gammopathy of undetermined significance (MGUS) involves abnormal plasma cells without symptomatic manifestations. This paper presents a compelling case of a 74-year-old Hispanic female diagnosed with a rare combination of high-risk MDS characterized by a complex karyotype and TP53 mutation, alongside IgG lambda MGUS. The patient's clinical presentation included a spectrum of symptoms such as body aches, rash, fever, dyspnea, and bloody watery diarrhea. Initial diagnostic evaluations yielded no significant findings, but subsequent investigations revealed abnormalities in both bone marrow and peripheral blood, indicative of coexisting MDS and MGUS. Chromosomal analysis further confirmed the presence of a complex karyotype with multiple aberrations, notably including 5q deletion. This case underscores the rarity of simultaneous high-risk MDS and MGUS, particularly with the additional complexity of a TP53 mutation and complex karyotype. It underscores the imperative for continued research efforts to elucidate the underlying mechanisms and optimal management strategies for such intricate cases. Moreover, it highlights the therapeutic challenges posed by concurrent MDS and plasma cell disorders, advocating for more aggressive interventions such as stem cell transplantation as potential avenues for improved patient outcomes.

## Linked entities

- **Genes:** TP53 (tumor protein p53) [NCBI Gene 7157]
- **Diseases:** myelodysplastic syndrome (MONDO:0018881), monoclonal gammopathy of undetermined significance (MONDO:0004225), MGUS (MONDO:0004225)

## Full-text entities

- **Genes:** TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}
- **Diseases:** bloody watery diarrhea (MESH:D003969), body aches (MESH:D010146), MDS (MESH:D009190), fever (MESH:D005334), hematologic disorders (MESH:D006402), IgG Lambda (MESH:D017099), dyspnea (MESH:D004417), IgG lambda MGUS (MESH:D008998), plasma cell disorders (MESH:D007952), rash (MESH:D005076)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC11099498/full.md

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Source: https://tomesphere.com/paper/PMC11099498