Yolk Sac Tumor in a Recurrence of Colonic Adenocarcinoma With Shared Mutations in APC and TP53 Genes: A Case Report

2022 ◽  
pp. 106689692110699
Author(s):  
Tomoyuki Otani ◽  
Hiroaki Kanemura ◽  
Masatomo Kimura ◽  
Seiichiro Mitani ◽  
Masayuki Takeda ◽  
...  

Only four cases of colorectal adenocarcinoma with a yolk sac tumor (YST) component have been reported in the English literature. No genetic investigation has been performed in these cases. We report a case of colorectal adenocarcinoma in which the recurrent tumor had a YST component. A 49-year-old woman presented with a pelvic tumor three years after endoscopic mucosal resection of sigmoid colon adenocarcinoma. The pelvic tumor consisted of an undifferentiated carcinoma component and a YST component. The serum alpha-fetoprotein level was elevated to 42 ng/mL. Treatment as conventional colorectal carcinoma produced some anticancer effects, but the patient died 14 months after the recurrence and 49 months after the EMR. With the help of the next-generation sequencing results of the recurrent tumor, APC c.835 − 8A > G and TP53 c.524G > A (p.R175H) mutations were identified by direct sequencing in both the primary and the recurrent tumors, confirming the relationship between the two metachronous tumors.

2009 ◽  
Vol 12 (5) ◽  
pp. 410-416 ◽  
Author(s):  
Mikako Warren ◽  
Karen S. Thompson

Primary yolk sac tumor of the liver is an extremely rare neoplasm, with fewer than 20 cases reported. We evaluated 2 pediatric cases (21-month-old and 23-month-old female patients), who presented with liver masses and markedly raised serum α-fetoprotein (AFP). One patient received a partial hepatectomy and another patient underwent a liver biopsy, both of which showed characteristic features of yolk sac tumor, with tumor cells staining strongly positive for AFP. There was no evidence of an extrahepatic primary source. Both of our patients have been healthy, without evidence of recurrent tumor, and their AFP level remains in the normal range after their chemotherapeutic treatments.


2020 ◽  
Vol 17 (4) ◽  
Author(s):  
Dalin Zhu ◽  
Fan Feng ◽  
Meijuan Peng

: Primary yolk sac tumor (YST) of the endometrium is a very rare malignant germ cell tumor, primary YST of the endometrium with detailed magnetic resonance imaging (MRI) and contrast-enhanced MRI (CE-MRI) findings have not yet been reported in the English literature. We report a 40-year-old woman presenting with irregular lower abdominal pain and dysmenorrhea for more than 5 months. MRI showed a lesion in the right side wall of the uterus. Postoperative pathology and immunohistochemistry confirmed the diagnosis of primary YST of the endometrium with the International Federation of Gynecology and Obstetrics (FIGO) system staging of IV. The signal of the tumor was complex and lacked specific characteristic. Diffusion-weighted imaging (DWI) showed that the lesion is diffuse limited, the average apparent diffusion coefficient (ADC) value of the solid component was 0.735 × 10-3 mm2/s. CE-MRI showed that the irregular lesions presented uneven and mild enhancement in the arterial stage, and continued to strengthen in the venous phase, and strengthened close to the myometrium in the delayed phase. Primary YST of the endometrium should be considered if MRI scans show an irregular lesion in the myometrium with high level of alpha-fetoprotein (AFP).


2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Archika Gupta ◽  
Shiv Narain Kureel ◽  
Shalini Bhalla ◽  
Anand Pandey ◽  
Gurmeet Singh ◽  
...  

Abstract Background Intraabdominal testicular tumors are rare in prepubertal children, and most of the cases reported are intraabdominal testicular teratoma. The present study reports the first case of intraabdominal testicular yolk sac tumor (YST) with normal preoperative serum alpha-fetoprotein levels and diagnosis confirmed on histopathology and immunohistochemistry. Case Presentation A 2-year-old boy presented with bilateral nonpalpable undescended testes (UDT) and abdominal mass. Preoperative serum alpha-fetoprotein was normal. Contrast-enhanced computed tomography (CECT) scan of whole abdomen revealed a heterogeneous mildly enhancing space-occupying lesion in midline and left side of pelvis, left intraabdominal testis and nonvisualization of right testis. During surgery, the mass was found to involve right testis with one turn of torsion of its pedicle. Derotation of testis was performed, and right radical orchiectomy was performed. Left orchiopexy was also performed at the same time. Histopathology and immunohistochemistry confirmed diagnosis of intraabdominal testicular YST. There was no recurrence or distant metastasis at 12-month follow-up after surgery. Conclusion In a case of nonpalpable UDT and abdominal mass/pain, one should always consider possibility of intraabdominal testicular tumor and should investigate the case with serum tumor markers and ultrasound/CECT abdomen. Further, histology of tumor helps in guiding treatment of condition.


Author(s):  
Dae Hwa Park ◽  
Hee Seok Moon ◽  
Dae Hyun Tak ◽  
Suk Hyun Kim ◽  
Jae Gyu Sung ◽  
...  

Author(s):  
Manling Luo ◽  
Yuanqiao He ◽  
Baogang Xie ◽  
Shiyun Li ◽  
Fuqiang Gan ◽  
...  

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