J Korean Med Sci.  2011 Aug;26(8):1099-1102. 10.3346/jkms.2011.26.8.1099.

Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea

• Yu N
• Kim HR
• Cha YJ
• Park EK
• Kim JW

• KMID: 1777851
• DOI: http://doi.org/10.3346/jkms.2011.26.8.1099

Abstract

The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently developed acute megakaryoblastic leukemia involving isochromosome (12p). A 25-yr-old man had been diagnosed with a mediastinal GCT and underwent surgical resection and adjuvant chemotherapy. At 1 week after the last cycle of chemotherapy, his peripheral blood showed leukocytosis with blasts. A bone marrow study confirmed the acute megakaryoblastic leukemia. A cytogenetic study revealed a complex karyotype with i(12p). Although additional chemotherapy was administered, the patient could not attain remission and died of septic shock. This case was definitely distinct from therapy-related secondary leukemia in terms of clinical, morphologic, and cytogenetic features. To our knowledge, this is the first case report of a patient with mediastinal GCT subsequently developing acute megakaryoblastic leukemia involving i(12p) in Korea.

Keyword

Mediastinal Germ Cell Tumor; Acute Megakaryoblastic Leukemia; Isochromosome (12p)

MeSH Terms

Adult
Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Bleomycin/administration & dosage
Bone Marrow/pathology
*Chromosomes, Human, Pair 12
Cisplatin/administration & dosage
Etoposide/administration & dosage
Humans
Isochromosomes
Karyotyping
Leukemia, Megakaryoblastic, Acute/drug therapy/etiology/*genetics
Male
Mediastinal Neoplasms/*diagnosis/drug therapy/surgery
Neoplasms, Germ Cell and Embryonal/*diagnosis/drug therapy/surgery
Neoplasms, Second Primary/drug therapy/etiology/*genetics
Republic of Korea
Shock, Septic/pathology

Figure

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  Fig. 1 (A) Peripheral blood smear showing blasts (57% of nucleated cells). (B) Bone marrow smear revealed many medium-sized myeloblasts (about 40.4% of all nucleated cells). (C) Dysplasic megakaryocyte. (D) PAS positivity (granular pattern). Wright-Giemsa stain, × 1,000 magnification. (E) Bone marrow biopsy showing compact marrow with increased dysplastic megakaryocytes (H&E, × 400 magnification).

• 

  Fig. 2 Giemsa-banded karyotype showing 46,XY,add(5)(q11.2),del(10)(p11.2), -17,der(18) t(17;18)(q11.2;q21),+i(12p)[30].

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