FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities

Alberto L'Abbate, Crocifissa Lo Cunsolo, Ettore Macrì, Paolo Iuzzolino, Cristina Mecucci, Claudio Doglioni, Michelina Coco, Lucia A. Muscarella, Simona Salati, Enrico Tagliafico, Carla Minoia, Giacoma De Tullio, Attilio Guarini, Nicoletta Testoni, Claudio Agostinelli, Clelia T. Storlazzi

Research output: Contribution to journalArticlepeer-review


Background: The progression of low-risk del(5q) myelodysplastic syndrome to acute myeloid leukemia is increased when associated with mutations of TP53, or with additional chromosomal abnormalities. However, to date the prognostic impact and molecular consequences of these rearrangements were poorly investigated. Single additional alterations to del(5q) by balanced chromosome rearrangements were rarely found in myelodysplasia. In particular, balanced alterations involving TP63 and FOXP1 genes were never reported in the literature.Case presentation: Here we report on a 79-year woman with an aggressive form of myelodysplastic syndrome with del(5q), no TP53 mutation, and a novel complex rearrangement of chromosome 3 in bone marrow cells. Our results revealed that the FOXP1 and TP63 genes were both relocated along chromosome 3. Strikingly, immunohistochemistry analysis showed altered protein levels, disclosing that this rearrangement triggered the expression of FOXP1 and TP63 genes. FOXP1 was also found activated in other patients with myelodysplasia and acute myeloid leukemia, showing that it is an important, recurrent event.Conclusions: We document an apparent role of FOXP1 and TP63, up to now poorly documented, in the progression of MDS in our patient who is lacking mutations in the TP53 tumor suppressor gene normally associated with poor outcome in myelodysplastic syndrome with 5q-. Finally, our results may suggest a possible broader role of FOXP1 in the pathogenesis and progression of myelodysplasia and acute myeloid leukemia.

Original languageEnglish
Article number396
JournalBMC Cancer
Issue number1
Publication statusPublished - Jun 3 2014


  • Chromosome 3
  • Double inversion
  • Gene activation
  • Myeloid leukemia
  • TP53

ASJC Scopus subject areas

  • Oncology
  • Cancer Research
  • Genetics
  • Medicine(all)


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