J Korean Surg Soc.  2012 Apr;82(4):205-210. 10.4174/jkss.2012.82.4.205.

Oncologic manifestations of neurofibromatosis type 1 in Korea

• Kim ET
• Namgung H
• Shin HD
• Lee SI
• Kwon JE
• Chang MC
• Park DG

• KMID: 1820067
• DOI: http://doi.org/10.4174/jkss.2012.82.4.205

Abstract

PURPOSE
The aim of this study was to investigate the incidence and spectrum of malignant tumors in Korean neurofibromatosis type 1 (NF1) patients.
METHODS
We retrospectively reviewed 125 patients who were diagnosed with NF1 at a single institution from 1995 to 2010. The incidence, location, histologic type, and radiologic findings of malignant tumors as well as development of multiple primary tumors were analyzed.
RESULTS
Eighteen malignant tumors occurred in 16 patients (12.8%) among 125 Korean NF1 patients; 9 carcinomas, 8 sarcomas and 1 central nervous system (CNS) tumor. Five tumors were of nervous system origin and 13 were non-nervous system tumors. The locations of the tumors were as follow: 1 CNS, 2 lung, 3 breast, 3 stomach, 3 small bowel, 1 colon, 1 liver, 1 uterus, 1 neck, and 2 in extremities. Three malignant peripheral nerve sheath tumors (MPNSTs) occurred at the neck and extremity, and one in the liver. All three gastrointestinal stromal tumors (GISTs) had multiple tumors in the jejunum, and one MPNST and one pheochromocytoma were accompanied in two GISTs. Multiple primary tumors, benign or malignant were reported in 4 patients (25.0%), synchronously or metachronously.
CONCLUSION
Korean NF1 patients had a high risk of developing malignant tumors. The common malignant tumors in Koreans such as breast, lung and stomach cancers developed frequently in addition to the NF1-related tumors such as MPNST or GIST.

Keyword

Malignant neoplasms; Neurofibromatosis 1; Korea

MeSH Terms

Breast
Central Nervous System
Colon
Extremities
Gastrointestinal Stromal Tumors
Humans
Incidence
Jejunum
Korea
Liver
Lung
Neck
Nerve Sheath Neoplasms
Nervous System
Neurofibromatoses
Neurofibromatosis 1
Pheochromocytoma
Retrospective Studies
Sarcoma
Stomach
Stomach Neoplasms
Uterus

Figure

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  Fig. 1 Radiologic appearance of malignant peripheral nerve sheath tumors in different locations. (A) Neck magnetic resonance imaging shows a 7.5 × 5.2 × 3.2 cm sized, heterogeneously high signal mass at right carotid space on T2 weighted image. (B) Pelvic computed tomography (CT) scan shows huge, enhancing mass at left buttock with bony erosion of sacrum, coccyx, and ilium. (C) Abdominal CT scan shows bulky, enhancing mass at right posterior segment of liver.

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  Fig. 2 Radiologic and gross appearance of small bowel gastrointestinal stromal tumor. (A) Abdominal computed tomography scan shows large, jejunal mass with several smaller masses. (B) Resected segment of jejunum shows main tumor and numerous small nodular masses (Reprinted from Namgung H. J Korean Surg Soc 2011;81:276-80, with permission of the Korean Surgical Society).

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  Fig. 3 Radiologic appearance of pheochromocytoma. Abdominal computed tomography scan shows large, well-defined, heterogeneously enhancing mass at right retroperitoneum. (A) Axial view. (B) Coronal view.

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