Inversion of chromosome 12 and lineage promiscuity in hematologic malignancies

Jeanna L Welborn, Helen Jenks, Janet Taplett, Paula Walling

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Rearrangements of the short arm of chromosome 12 are among the most common aberrations found in hematologic malignancies, including myelodysplastic syndromes, acute myelocytic leukemias, acute lymphoblastic leukemias, and non-Hodgkin lymphomas. We report on a group of 46 patients with a variety of myelocytic and lymphoid malignancies, all with an inversion of chromosome 12. Both pericentric and paracentric inversions occurred. The identified hotspots for breakage were p13 and q24. These correspond to gene-rich areas of known chromosome instability. The inv(12) is difficult to detect and may be misinterpreted as a partial deletion by routine cytogenetics. Fluorescence in situ hybridization studies revised the G-banding interpretations of a deleted 12p in some cases to an inversion. The inv(12) may occur as the sole abnormality in both myelocytic and lymphoid malignancies, suggesting lineage promiscuity as seen with MLL and ETV6 gene disruptions. The majority of patients with the inv(12) had complex karyotypic changes that predicted a poor prognosis. Of the 24 patients with known clinical follow-up, many were refractory to chemotherapy and overall survival was short.

Original languageEnglish (US)
Pages (from-to)91-103
Number of pages13
JournalCancer Genetics and Cytogenetics
Volume148
Issue number2
DOIs
StatePublished - Jan 15 2004

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Chromosomes, Human, Pair 12
Hematologic Neoplasms
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Chromosomal Instability
Myelodysplastic Syndromes
Fluorescence In Situ Hybridization
Acute Myeloid Leukemia
Cytogenetics
Non-Hodgkin's Lymphoma
Genes
Neoplasms
Drug Therapy
Survival

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Inversion of chromosome 12 and lineage promiscuity in hematologic malignancies. / Welborn, Jeanna L; Jenks, Helen; Taplett, Janet; Walling, Paula.

In: Cancer Genetics and Cytogenetics, Vol. 148, No. 2, 15.01.2004, p. 91-103.

Research output: Contribution to journalArticle

Welborn, Jeanna L ; Jenks, Helen ; Taplett, Janet ; Walling, Paula. / Inversion of chromosome 12 and lineage promiscuity in hematologic malignancies. In: Cancer Genetics and Cytogenetics. 2004 ; Vol. 148, No. 2. pp. 91-103.
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