Lab Med Online.  2018 Apr;8(2):56-61. 10.3343/lmo.2018.8.2.56.

Anaplastic Large Cell Lymphoma with Massive Eosinophilia and Complex Karyotype Initially Misdiagnosed as Chronic Eosinophilic Leukemia

• So MK
• Park S
• Cho MS
• Mun YC
• Huh J

• KMID: 2407563
• DOI: http://doi.org/10.3343/lmo.2018.8.2.56

Abstract

We report a patient with massive eosinophilia and a complex karyotype that was initially misdiagnosed as chronic eosinophilic leukemia (CEL), but later diagnosed as anaplastic large cell lymphoma (ALCL) masked by massive eosinophilia. The complex karyotype observed at initial diagnosis remained unchanged later, after the evidence of bone marrow involvement of ALCL was obtained. At diagnosis, genetic aberrations corresponding to metaphase cytogenetics were not identified by interphase fluorescence in situ hybridization, although abnormal results were noted at follow-up. Together, these observations indicate that the complex karyotype at initial work-up has been derived from a low proportion of lymphoma cells with high mitotic ability that were not identified by microscopy, rather than from massive eosinophils. These findings suggest that our patient had ALCL with secondary eosinophilia rather than CEL since initial diagnosis.

Keyword

Hypereosinophilia; Metaphase cytogenetics; Interphase fluorescence in situ hybridization; Anaplastic large cell lymphoma; Chronic eosinophilic leukemia

MeSH Terms

Bone Marrow
Cytogenetics
Diagnosis
Eosinophilia*
Eosinophils*
Fluorescence
Follow-Up Studies
Humans
Hypereosinophilic Syndrome*
In Situ Hybridization
Interphase
Karyotype*
Lymphoma
Lymphoma, Large-Cell, Anaplastic*
Masks
Metaphase
Microscopy

Figure

• 

  Fig. 1. Morphology, cytogenetic studies, and interphase fluorescence in situ hybridization (iFISH) at diagnosis (A) and follow-up (B). (A1) Peripheral blood smear showing eosinophilia without abnormal lymphoid cells. (A2) BM examination showing hypercellularity with marked eosinophil predominance. No abnormal lymphoid cells were observed. (A3) G-banded karyotype result showing a complex karyotype at diagnosis. (A4) iFISH using D13S319/13q34 probes and RUNX1/RUNX1T1 probes shows normal hybridization signals. (B1) Peripheral blood smear revealing abnormal lymphoid cells with eosinophilia. (B2) BM aspiration revealing large irregular lymphoid cells with some eosinophils. (B3) G-banded karyotype revealing the same complex karyotype at follow-up as at diagnosis. (B4) iFISH using D13S319/13q34 probes shows two green signals (LAMP1) and one orange (D13S319) signal, indicating deletion of the 13q14.3 locus. iFISH using RUNX1/RUNX1T1 probes shows three green (RUNX1) and two orange (RUNX1T1) signals, demonstrating RUNX1 amplification.

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