Korean J Hematol.  2009 Dec;44(4):330-335. 10.5045/kjh.2009.44.4.330.

A Case of Neuroendocrine Carcinoma and Childhood Myelodysplastic Syndrome in Hyper-IgM Syndrome

• Lee YJ
• Yoon KH
• Lee KE
• Choi DY
• Lee YH

• KMID: 2252122
• DOI: http://doi.org/10.5045/kjh.2009.44.4.330

Abstract

Congenital immunodeficiency is one or combined immune defect in immunoglobulin, leukocyte, and complement. These patients have increased susceptibility to respiratory infection. Hence, their infection must be taken care of, tried to gene therapy and stem cell transplantation. We present here a case of hyper-IgM syndrome in an 11-year-old male patient who complained of abdominal distension and abdominal pain. Multiple abdominal masses were detected by abdominal computed tomography (CT) and he was diagnosed with neuroendocrine carcinoma by mass biopsy. There was no evidence of metastasis of cancer cells to the bone marrow, but a dysgranulopoietic feature was noted and he was diagnosed with childhood myelodysplastic syndrome. This is the first report that neuroendocrine carcinoma is associated with childhood myelodysplastic syndrome in hyper-IgM syndrome.

Keyword

Hyper-IgM syndrome; Neuroendocrine carcinoma; Childhood myelodysplastic syndrome

MeSH Terms

Abdominal Pain
Biopsy
Bone Marrow
Carcinoma, Neuroendocrine
Child
Complement System Proteins
Genetic Therapy
Humans
Hyper-IgM Immunodeficiency Syndrome
Immunoglobulins
Leukocytes
Male
Myelodysplastic Syndromes
Neoplasm Metastasis
Stem Cell Transplantation
Complement System Proteins
Immunoglobulins

Figure

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  Fig. 1. Abdominal CT scan findings. (A) Horizontal abdominal CT scan revealed an 85×79 mm cystic change of tumor mass in the transverse colon, multiple enlarged mass around colon, and in the liver. (B) Transversal abdominal CT scan showed multiple variable sized liver lesions.

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  Fig. 2. Microscopic finding of the abdominal mass. (A) Compact tumor cells and sheaths proliferations consistent with small round cell cancer (H&E stain, ×200). (B) Immunohistochemically tumor cells show strong positivity for the synaptophysin (synaptophysin stain, x200).

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  Fig. 3. Microscopic finding of peripheral blood and bone marrow aspiration. (A) Neutrophil showed megaloblastic change (PB, Wright stain, ×1,000). (B) Megaloblastic change and abnormal lobulated neutrophils (BM, Wright stain, ×1,000).

Reference

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