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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 30  |  Issue : 4  |  Page : 1250-1253

Unusual association of testicular yolk sac tumor with pectus excavatum in an 18-month-old child: A case report


Department of Pediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India

Date of Submission12-Mar-2017
Date of Acceptance01-Jun-2017
Date of Web Publication04-Apr-2018

Correspondence Address:
Aditya P Singh
Near The Mali Hostel, Main Bali Road, Falna, District Pali, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mmj.mmj_159_17

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  Abstract 


Testicular tumors are rare in children, but highly treatable and usually curable. In children, testicular tumor accounts for ~ 1–2% of all tumors. Among testicular tumors, germ cell tumors have a bimodal age distribution. One peak occurs in the first 2 years of life and the second peak occurs in young adults 15–35 years of age. Germ cell tumors in children are distinct from that in adults in term of their behavior, histological nature, metastasis, and the treatment needed. Here, we present a case of testicular tumor with a chest wall deformity in an 18-month-old male child. This is the first case of testicular yolk sac tumor in an 18-month-old male child with chest wall deformity (pectus excavatum).

Keywords: α-fetoprotein, chemotherapy, germ cell tumor, pectus excavatum, retroperitoneal lymph node dissection, yolk sac tumor


How to cite this article:
Singh AP, Shukla AK, Sharma P, Barolia DK. Unusual association of testicular yolk sac tumor with pectus excavatum in an 18-month-old child: A case report. Menoufia Med J 2017;30:1250-3

How to cite this URL:
Singh AP, Shukla AK, Sharma P, Barolia DK. Unusual association of testicular yolk sac tumor with pectus excavatum in an 18-month-old child: A case report. Menoufia Med J [serial online] 2017 [cited 2020 Apr 8];30:1250-3. Available from: http://www.mmj.eg.net/text.asp?2017/30/4/1250/229203




  Introduction Top


Testicular yolk sac tumors account for 70–80% of prepubertal malignant testicular tumors and are the most common childhood testicular cancer[1]. Germ cell tumors account for 60% testicular tumors in children, but 95% of testicular tumors in adults. Adult germ cell tumors such as seminoma and embryonal carcinoma are rare in children. Teratoma that are benign in children are often malignant in adults. The prognosis of testicular yolk sac tumors is dependent on early detection and treatment. Our case has a very rare association between testicular tumor and chest wall deformity. To our knowledge, this is the first case report of an unusual association of the two different systems. Genetic study and research related to this association need to be carried out.


  Case Report Top


An 18-month-old male child presented to us with painless right testicular swelling, which was noticed 1 week previously. On examination, it was 7 × 5 cm 2 in size, nontender, and irregular in shape and firm in consistency [Figure 1] and [Figure 2]. There was no family history of cancer. Routine blood investigations were within normal limits including complete blood counts, renal function test and liver function test, and serum electrolytes.
Figure 1: Preoperative anterior view of the tumor.

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Figure 2: Preoperative lateral view of the tumor.

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Color Doppler ultrasound examination indicated an enlarged right testis measuring 8 × 5 × 3 cm 3 in size. It showed a heterogeneous mass, cystic areas, calcification, and a small hydrocele possibly neoplastic in nature. The left testis was normal.

In addition, the liver, spleen, gall bladder, pancreas, kidneys, major vessels, and urinary bladder were found to be normal. The values of tumor markers α-fetoprotein (AFP) and β-human chorionic gonadotropin are shown in [Table 1].
Table 1: Tumor markers

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There was associated chest wall deformity. The patient had a pectus excavatum deformity [Figure 3]. Echocardiography was normal, with associated scoliosis present [Figure 4]. Contrast enhanced computed tomography of the abdomen indicated a scrotum with the presence of a large heterogeneous density lesion involving the right testicles, and multiple subcentimeter size preaortic and para-aortic lymph nodes were noted [Figure 5]. The patient underwent unilateral orchidectomy through the inguinal approach [Figure 6]. The right testis was removed together with all its coverings with the maximum cord length up to the deep inguinal ring [Figure 7]. No fixity to the skin was observed. The patient was discharged the next day and the stitches were removed after 8 days. The postoperative period was uneventful.
Figure 3: Pectus excavatum.

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Figure 4: Chest radiography and abdomen-scoliosis with soft tissue shadow in the scrotum.

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Figure 5: CECT abdomen and scrotum – heterogeneous mass in the scrotum.

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Figure 6: Intraoperative tumor with cord structure up to the deep inguinal ring.

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Figure 7: Excised specimen of tumor.

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Gross examination of the specimen submitted for histopathology showed a well-circumscribed gray-white globular partially encapsulated mass measuring 10 × 10 × 10 cm 3 in size. The cut surface showed gray white solid, with a few cystic, hemorrhagic, and mucoid areas.

H and E-stained section of the tumor showed a pure yolk sac tumor. Sections from the epididymis, spermatic cord, and rete testis were free from tumor. The patient is under stringent follow-up. AFP analysis carried out 21 days after surgery showed a significant decrease to 464 ng/ml from more than 2000 ng/ml before surgery. He was referred to the oncologist for further management and follow-up.


  Discussion Top


Yolk sac tumor is also known as endodermal sinus cancer, and has a relatively low incidence rate of about 0.1/100 000, but it is the most common tumor type among all pediatric malignant testicular cancers[2],[3]. Germ cell tumors are most frequently found in the gonads. Only 2–5% of them arise in extragonadal regions such as the mediastinum, retroperitoneum, pineal gland, and sacral areas. Yolk sac tumor of the penile shaft and urachus has also been reported[4].

There are two types of germ cell tumors: seminomas and nonseminomas. Seminomas are extremely rare in prepubertal children. Among nonseminomatous germ cell tumors, the most common are teratomas and yolk sac tumors, which account for about 62 and 26% of testes tumor in infants and toddlers, respectively. The painless hard enlargement of a previously normal testis is the most frequent presentation of a yolk sac tumor.

Three clinical stages for the determination of extension of the tumor have been described. Stage 1 is where the tumor is confined to the testis. Invasion of the epididymis, tunica albuginea, spermatic cord, or scrotum does not change tumor stage, but increases the risk of nodal involvement and the risk of recurrence. In stage 2, the tumor has retroperitoneal lymph node metastasis. Stage 3 is characterized by supraclavicular lymph nodes, visceral involvement, or persistently elevated tumor marker values.

The vast majority, 85% of yolk sac tumors in children, present as clinical stage 1 disease compared with 35% in adults. Therefore, a patient can be safely managed with observation after orchidectomy. Chemotherapy is reserved for recurrence. Our patient had a stage 1 tumor. Testicular yolk sac tumors frequently secrete high concentrations of AFP; therefore, AFP is considered important in the diagnosis and follow-up of the tumors[5]. Evidence suggests that infants aged younger than 1 year with serum AFP levels of more than 100 ng/ml should be presumed to have a yolk sac tumor and that serum AFP levels should be monitored postoperatively to identify yolk sac tumor recurrence during follow-up. If AFP levels do not decrease by postoperative day 5, residual or metastatic disease should be considered[5].

Ultrasound is the most common method for the diagnosis of testicular tumors; it can also be used to differentiate benign and malignant testicular lesions[6]. Importantly, ultrasound can distinguish intratesticular and paratesticular lesions. The majority of intratesticular lesions are malignant, whereas more paratesticular lesions are benign. In young children, yolk sac tumors are predominantly pure in histology and are not usually mixed with other histological types as may be encountered in adults. Histopathology indicated that our patient had a yolk sac tumor.

Yolk sac tumors in children metastasize through the hematogenous route in more than half of the cases in comparison with adults, where it is only 4–6%[7]. This fact alters the treatment modality. This indicates that retroperitoneal lymph node dissection (RPLND) would not be adequate treatment in children and would result in complications such as chylous ascities, postoperative bowel obstruction, wound infection, and subsequently ejaculatory dysfunction.

The treatment of testicular yolk sac tumors is dependent on tumor stage and patient age. In children, inguinal orchidectomy, followed by stringent surveillance for 2 years is the preferred treatment option. Combination chemotherapy may be reserved for metastatic disease or recurrence. RPLND is preferable in adults.

Traditionally, high inguinal orchidectomy was recommended for testicular yolk sac tumors because of the aggressive nature of the cancer[8]. More recently, testis-sparing surgery has been suggested as a safe and efficacious choice for patients with a testicular tumor with a diameter less than 2 cm. We recommended observation after inguinal orchidectomy and stringent follow-up for 2 years for our patient. The latter includes tumor marker AFP and chest radiography every 2 months and MRI every 3–4 months. If there is no evidence of recurrence after the second year, surveillance using all these methods can be less frequent as the risk is the highest in the first 2 years.

Pectus excavatum (funnel chest), a depression deformity of the chest wall, was first reported by Bauhinus 1594 case published by Schenck. The deformity was, however, first described by Eggel in 1870. The incidence of funnel chest is 1 in 1000 live births, with a 3:1 male–female predominance[9]. Although it appears that the vast majority of instances are sporadic, familial incidences have been frequently documented. An autosomal dominant inheritance accounts for the genetic predisposition of this deformity. However, acquired chest depression deformities secondary to cardiac surgery have been observed. Pectus excavatum is more severe in patients with an associated Marfan's syndrome. It is also important to consider Marfan's syndrome in all patients with this deformity who have scoliosis. Ophthalmologic evaluation to identify subluxation of the lens and echocardiographic examination to identify the dilatation of the aortic root or mitral valve regurgitation must be carried out preoperatively to support the diagnosis of Marfan's syndrome, if present. Musculoskeletal abnormalities, most frequently scoliosis, are associated with pectus excavatum and may not require surgical evaluation. Minimal invasive repair of pectus excavatum was introduced by Donald Nuss and this procedure is more commonly known as the 'Nuss Procedure'[10].


  Conclusion Top


Prepubertal testicular tumors are rare, but result in great anxiety and burden on the family when they do occur. Testicular germ cell tumors in infants are distinct from those in adults. In recent years, the prognosis of testicular tumors, even in metastatic disease, has changed markedly with combination chemotherapy.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Ross JH, Rybicki L, Kay R. Clinical behaviour and a contemporary management algorithm for prepubertal testis tumours: a summary of the prepubertal testis tumour registry. J Urol 2002; 168:1675–1678.  Back to cited text no. 1
    
2.
Oottamasathien S, Thomas JC, Adam MC, Demarco RT, Brock JW, Pope JC. Testicular tumours in children: a single institutional experience. BJU Int 2007; 99:1123–1126.  Back to cited text no. 2
    
3.
Agarwal PK, Palmer JS. Testicular and paratesticular neoplasms in prepubertal males. J Urol 2006; 176:875–881.  Back to cited text no. 3
    
4.
Samaila M, Maitama HY, Abdullahi K, Mbibu H, Waziri GD. Yolk sac tumour of the penile shaft: a rare primary extragonadal presentation. Afr J Paediatr Surg 2011; 8:241–243.  Back to cited text no. 4
    
5.
Patel P, Balise R, Srinivas S. Variations in normal serum alpha-fetoprotein (AFP) levels in patients with testicular cancer on surveillance. Onkologie 2012; 35:588–591.  Back to cited text no. 5
    
6.
McDonald MW, Reed AB, Tran PT, Evans LA. Testicular tumour ultrasound characteristics and association with histopathology. Urol Int 2012; 89:196–202.  Back to cited text no. 6
    
7.
Ahmed HU, Arya M, Muneer A, Mushtaq I, Sebire NJ. Testicular and paratesticular tumours in the prepubertal population. Lancet Oncol 2010; 11:476–483.  Back to cited text no. 7
    
8.
Rice KR, Magers MJ, Beck SD, Cary KC, Einhorn LH, Ulbright TM, Foster RS. Management of germ cell tumours with somatic type malignancy: pathologic features, prognostic factors and survival outcomes. J Urol 2014; 192:1403–1409.  Back to cited text no. 8
    
9.
Clausner A, Hoffmann-v Kapp-herr S. Gegenwartiger stand der trichterbrust. Dtsch Med Wschr 1995; 120:881–883.  Back to cited text no. 9
    
10.
Nuss D, Kelly REJr, Croitoru DP, Katz ME. A 10 year review of a minimally invasive technique for the correction of pectus excavatum. J Pediatr Surg 1998; 33:545–52.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]
 
 
    Tables

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