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[A case of acute promyelocytic leukemia with double ider (17q-)]

Hai-Rong Qiu1, Jian-Yong Li, Yu Zhu

  • 1Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province People Hospital, Nanjing 210029, China.

Zhongguo Shi Yan Xue Ye Xue Za Zhi
|December 20, 2007
PubMed

Insights

This study details a rare case of relapsed acute promyelocytic leukemia (APL) with complex chromosomal aberrations, specifically double idic(17q). Advanced techniques like FISH and M-FISH confirmed these genetic abnormalities, aiding in understanding APL.

Area of Science:

  • Hematology
  • Cytogenetics
  • Molecular Biology

Background:

  • Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia.
  • Relapsed APL cases can present with complex genetic alterations.
  • Accurate characterization of chromosomal aberrations is crucial for diagnosis and prognosis.

Observation:

  • A relapsed APL case exhibited complex chromosomal aberrations, including double isodicentric 17q [ider(17q)x2].
  • Conventional cytogenetics revealed a karyotype of 47, XY, 1p-, 15q+, ider(17q)x2.
  • Multiparameter flow cytometry showed immunophenotypic markers consistent with APL (CD13+, CD33+).

Findings:

  • Fluorescence in situ hybridization (FISH) detected five fusion signals in interphase cells.
  • Multiplex FISH (M-FISH) confirmed the complex chromosomal abnormalities, including the double ider(17q).
  • The identified genetic aberrations were associated with a specific immunophenotype.

Implications:

  • Double ider(17q) represents a rare additional abnormality in APL.
  • Combining FISH and M-FISH is a reliable method for identifying complex chromosomal aberrations in APL.
  • Detailed genetic and immunophenotypic analysis aids in understanding APL pathogenesis and treatment.

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