Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor

Eun Ju Huh; So Young Park; Sang Rhim Choi; Seung Yeon Chung; Jin Han Kang; Kyoung Mee Kim; Je Hoon Lee; Dae Chul Jeong

doi:10.5045/kjh.2005.40.2.129

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Huh, Park, Choi, Chung, Kang, Kim, Lee, and Jeong: Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor

Case Report

Korean J Hematol 2005;40(2):129-133.

Published online: 21 June 2005

DOI: https://doi.org/10.5045/kjh.2005.40.2.129

Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor

Eun Ju Huh, M.D.¹, So Young Park, M.D.¹, Sang Rhim Choi, M.D.¹, Seung Yeon Chung, M.D.¹, Jin Han Kang, M.D.¹, Kyoung Mee Kim, M.D.², Je Hoon Lee, M.D.³, Dae Chul Jeong, M.D.¹

¹Department of Pediatrics, The Catholic University of Korea College of Medicine, Incheon, Korea

²Department of Pathology, The Catholic University of Korea College of Medicine, Incheon, Korea

³Department of Laboratory Medicine, The Catholic University of Korea College of Medicine, Incheon, Korea

Correspondence to: Dae Chul Jeong, M.D. Department of Pediatrics, The Catholic University of Korea College of Medicine 665 Bupyeong 6-dong, Bupyeong-gu, Incheon 403-720, Korea Tel: +82-32-510-5687, Fax: +82-32-503-9724 E-mail: dcjeong@catholic.ac.kr.

Received 20 April 2005 Revised 30 May 2005 Accepted 10 June 2005

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A 4 years-old girl was diagnosed with aggressive systemic mastocytosis at 2 months after the end of chemotherapy including cisplatin, bleomycin and etoposide for an ovarian germ cell tumor (GCT). She was shown pigmented skin lesion, hepatosplenomegaly, thrombocytopenia and increased mast cells with positive toluidine blue staining on the bone marrow examination. Immunohistochemical staining for c-kit was highly expressed in the bone marrow and skin, but not in the GCT specimen. However, c-kit point mutation was detected in the bone marrow, peripheral blood and GCT tissue when performing PCR via oligonucleotide sequencing. We report here on one case of aggressive systemic mastocytosis following ovarian germ cell tumor with c-kit point mutation.

Keywords: Germ cell tumor, Aggressive systemic mastocytosis, c-kit point mutation

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Fig. 1.

Germ cell tumor of the ovary. There was shown immature teratoma within the mixed germ cell tumor of the ovary with primitive neuroepithelial components (HE stain, × 100).

Fig. 2.

Widespread brown maculopapular skin lesion on the abdomen with visible oophorectomy scar.

Fig. 3.

There were shown a cluster of large atypical mast cells with metachromatic granules in Toluidine blue staining (× 1,000, A), and strong positive findings of c-kit by immunohistochemical staining in bone marrow (× 100, B).

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