Journal of Dermatology 2015; 42: 621–624
doi: 10.1111/1346-8138.12854
CONCISE COMMUNICATION
Case of clear cell sarcoma in the left buttock in which serum neuron-specific enolase was a useful marker for monitoring disease progression Saori TAKAMURA, Yuichi TERAKI Department of Dermatology, Saitama Medical Center, Saitama Medical University, Saitama, Japan
ABSTRACT We report a case of clear cell sarcoma (CCS) in the left buttock in which serum neuron-specific enolase (NSE) was useful as a biomarker of CCS progression. A 40-year-old man had a subcutaneous tumor, 1.7 cm in diameter, in the left buttock. Histopathology revealed that the tumor consisted of nests of polygonal or spindle-shaped cells with abundant clear cytoplasm delineated by fibrous septa in the subcutaneous tissue. There was cellular atypia but no melanin deposits. Immunohistochemically, the tumor cells were positive for HMB-45, Melan-A, S-100 protein and NSE. Reverse transcription polymerase chain reaction demonstrated Ewing’s sarcoma oncogene–activating transcription factor 1 fusion transcripts in the tumor cells. CCS was diagnosed. There was no metastasis to the lymph nodes and viscera, and the patient was treated by surgical wide resection. The serum NSE levels increased before detection of distant metastasis and further increased in parallel with the expansion of metastasis. The present case suggests that serum NSE could be used as a biochemical marker in the clinical follow up of patients with CCS.
Key words:
clear cell sarcoma, neuron-specific enolase, serum neuron-specific enolase.
INTRODUCTION Clear cell sarcoma (CCS) is a rare soft-tissue tumor that is thought to be derived from a neural crest cell precursor in common with melanocytes.1 It primarily affects young adults between 20 and 40 years of age and commonly arises in the distal extremities, particularly the feet and ankles.2 CCS shows
(a)
a high rate of recurrence and metastasis, with 5-year diseasespecific survival rates of 47–67%.3 However, there is no valuable biochemical marker for use in the clinical follow up of patients with CCS. Here, we report a case of CCS in the left buttock, which exhibited multiple distant metastases after surgical resection. In this patient, serum neuron-specific enolase (NSE) levels
(b)
Figure 1. (a) T1-weighted magnetic resonance imaging (MRI) showing a lesion, isointense to muscle, in the subcutaneous fat. (b) T2-weighted MRI showing heterogeneity of the lesion with foci of hypointensity.
Correspondence: Yuichi Teraki, M.D., Department of Dermatology, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama 350-8550, Japan. Email: [email protected] Received 6 January 2015; accepted 9 February 2015.
© 2015 Japanese Dermatological Association
621
S. Takamura and Y. Teraki
(a)
Figure 2. (a,b) The histopathology consisted of nests of polygonal or spindle-shaped cells with abundant clear cytoplasm delineated by fibrous septa in the subcutaneous tissue. A necrotic area was found in the center of the tumor (hematoxylin–eosin, original magnifications: [a] 940; [b] 9200). (c) Tumor cells were positive for HMB-45, Melan-A, S-100 protein and neuron-specific enolase (NSE) (immunoperoxidase, 9200). (d) Detection of EWSR1–ATF1 fusion transcripts by reverse transcription polymerase chain reaction analysis.
(a)
(b)
Serum levels of NSE
(b) 300
(c)
ng/mL
250 200 150 100 50 0
Serum levels of LDH, ALP, and AST 1200 1000
U/L
800
LDH ALP AST
600 400 200
(d)
0
Metastasis
2011/6 2011/12 2012/4
(–)
(–)
Wide resection
2012/6 2012/7
(+)
(+)
Left inguinal LNs Lungs Left thigh muscles Liver Bones
Figure 3. (a) Positron emission tomography image showing metastasis of the left inguinal lymph nodes, left thigh muscles and bones. (b) Serum levels of neuron-specific enolase (NSE) and lactate dehydrogenase (LDH) and, to a lesser extent, those of got alkaline phosphatase (ALP) increased in parallel with the expansion of metastasis. AST, aspartate aminotransferase; LN, lymph node.
622
© 2015 Japanese Dermatological Association
Clear cell sarcoma and serum NSE
increased in parallel with the expansion of metastasis of tumor cells, suggesting that serum NSE is a useful marker for monitoring the disease progression of CCS.
CASE REPORT A 40-year-old man presented with a 4-month history of a subcutaneous tumor in the left buttock. Physical examination revealed a slightly firm subcutaneous nodule. Magnetic resonance imaging revealed a subcutaneous mass, 1.7 cm in diameter, with a central hypodense area suggestive of necrosis (Fig. 1). Excisional biopsy was performed. Histopathology revealed that the tumor consisted of nests of polygonal or spindle-shaped cells with abundant clear cytoplasm delineated by fibrous septa in the subcutaneous tissue. Necrosis was found in the center of the tumor. There was cellular atypia but no melanin deposits (Fig. 2a,b). Immunohistochemical staining revealed that tumor cells were positive for HMB-45, Melan-A, S-100 protein and NSE (Fig. 2c). Ewing’s sarcoma oncogene–activating transcription factor 1 (EWSR1–ATF1) fusion transcripts were detected in the paraffin-embedded specimen by reverse transcription polymerase chain reaction analysis (Fig. 2d). On the basis of these findings, CCS was diagnosed. No metastasis to the regional lymph nodes and viscera was found by positron emission tomography (PET). The patient was treated by surgical wide resection and was followed up without any chemotherapy, according to the patient’s wishes. Serum NSE levels were 12.3 ng/mL (normal,
doi: 10.1111/1346-8138.12854
CONCISE COMMUNICATION
Case of clear cell sarcoma in the left buttock in which serum neuron-specific enolase was a useful marker for monitoring disease progression Saori TAKAMURA, Yuichi TERAKI Department of Dermatology, Saitama Medical Center, Saitama Medical University, Saitama, Japan
ABSTRACT We report a case of clear cell sarcoma (CCS) in the left buttock in which serum neuron-specific enolase (NSE) was useful as a biomarker of CCS progression. A 40-year-old man had a subcutaneous tumor, 1.7 cm in diameter, in the left buttock. Histopathology revealed that the tumor consisted of nests of polygonal or spindle-shaped cells with abundant clear cytoplasm delineated by fibrous septa in the subcutaneous tissue. There was cellular atypia but no melanin deposits. Immunohistochemically, the tumor cells were positive for HMB-45, Melan-A, S-100 protein and NSE. Reverse transcription polymerase chain reaction demonstrated Ewing’s sarcoma oncogene–activating transcription factor 1 fusion transcripts in the tumor cells. CCS was diagnosed. There was no metastasis to the lymph nodes and viscera, and the patient was treated by surgical wide resection. The serum NSE levels increased before detection of distant metastasis and further increased in parallel with the expansion of metastasis. The present case suggests that serum NSE could be used as a biochemical marker in the clinical follow up of patients with CCS.
Key words:
clear cell sarcoma, neuron-specific enolase, serum neuron-specific enolase.
INTRODUCTION Clear cell sarcoma (CCS) is a rare soft-tissue tumor that is thought to be derived from a neural crest cell precursor in common with melanocytes.1 It primarily affects young adults between 20 and 40 years of age and commonly arises in the distal extremities, particularly the feet and ankles.2 CCS shows
(a)
a high rate of recurrence and metastasis, with 5-year diseasespecific survival rates of 47–67%.3 However, there is no valuable biochemical marker for use in the clinical follow up of patients with CCS. Here, we report a case of CCS in the left buttock, which exhibited multiple distant metastases after surgical resection. In this patient, serum neuron-specific enolase (NSE) levels
(b)
Figure 1. (a) T1-weighted magnetic resonance imaging (MRI) showing a lesion, isointense to muscle, in the subcutaneous fat. (b) T2-weighted MRI showing heterogeneity of the lesion with foci of hypointensity.
Correspondence: Yuichi Teraki, M.D., Department of Dermatology, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama 350-8550, Japan. Email: [email protected] Received 6 January 2015; accepted 9 February 2015.
© 2015 Japanese Dermatological Association
621
S. Takamura and Y. Teraki
(a)
Figure 2. (a,b) The histopathology consisted of nests of polygonal or spindle-shaped cells with abundant clear cytoplasm delineated by fibrous septa in the subcutaneous tissue. A necrotic area was found in the center of the tumor (hematoxylin–eosin, original magnifications: [a] 940; [b] 9200). (c) Tumor cells were positive for HMB-45, Melan-A, S-100 protein and neuron-specific enolase (NSE) (immunoperoxidase, 9200). (d) Detection of EWSR1–ATF1 fusion transcripts by reverse transcription polymerase chain reaction analysis.
(a)
(b)
Serum levels of NSE
(b) 300
(c)
ng/mL
250 200 150 100 50 0
Serum levels of LDH, ALP, and AST 1200 1000
U/L
800
LDH ALP AST
600 400 200
(d)
0
Metastasis
2011/6 2011/12 2012/4
(–)
(–)
Wide resection
2012/6 2012/7
(+)
(+)
Left inguinal LNs Lungs Left thigh muscles Liver Bones
Figure 3. (a) Positron emission tomography image showing metastasis of the left inguinal lymph nodes, left thigh muscles and bones. (b) Serum levels of neuron-specific enolase (NSE) and lactate dehydrogenase (LDH) and, to a lesser extent, those of got alkaline phosphatase (ALP) increased in parallel with the expansion of metastasis. AST, aspartate aminotransferase; LN, lymph node.
622
© 2015 Japanese Dermatological Association
Clear cell sarcoma and serum NSE
increased in parallel with the expansion of metastasis of tumor cells, suggesting that serum NSE is a useful marker for monitoring the disease progression of CCS.
CASE REPORT A 40-year-old man presented with a 4-month history of a subcutaneous tumor in the left buttock. Physical examination revealed a slightly firm subcutaneous nodule. Magnetic resonance imaging revealed a subcutaneous mass, 1.7 cm in diameter, with a central hypodense area suggestive of necrosis (Fig. 1). Excisional biopsy was performed. Histopathology revealed that the tumor consisted of nests of polygonal or spindle-shaped cells with abundant clear cytoplasm delineated by fibrous septa in the subcutaneous tissue. Necrosis was found in the center of the tumor. There was cellular atypia but no melanin deposits (Fig. 2a,b). Immunohistochemical staining revealed that tumor cells were positive for HMB-45, Melan-A, S-100 protein and NSE (Fig. 2c). Ewing’s sarcoma oncogene–activating transcription factor 1 (EWSR1–ATF1) fusion transcripts were detected in the paraffin-embedded specimen by reverse transcription polymerase chain reaction analysis (Fig. 2d). On the basis of these findings, CCS was diagnosed. No metastasis to the regional lymph nodes and viscera was found by positron emission tomography (PET). The patient was treated by surgical wide resection and was followed up without any chemotherapy, according to the patient’s wishes. Serum NSE levels were 12.3 ng/mL (normal,
