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Eble JN, Sauter G., Epstein JI, Sesterhenn IA - iarc

Eble JN, Sauter G., Epstein JI, Sesterhenn IA - iarc

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senting symptom: back or abdominal<br />

pain, gastrointestinal problems, cough<br />

or dyspnoea. Gynecomastia may also<br />

be seen in about 5% of cases.<br />

Occasionally, extensive work ups have<br />

resulted without an adequate examination<br />

of the genitalia.<br />

Imaging<br />

Ultrasound (US) is the primary imaging<br />

modality for evaluating scrotal pathology.<br />

It is easily performed and has been<br />

shown to be nearly 100% sensitive for<br />

identifying scrotal masses. Intratesticular<br />

versus extratesticular pathology can be<br />

differentiated with 98-100% sensitivity<br />

{211,378,2194}. The normal testis has a<br />

homogeneous, medium level, granular<br />

echo texture. The epididymis is isoechoic<br />

to slightly hyperechoic compared to the<br />

testis. The head of the epididymis is<br />

approximately 10-12 mm in diameter and<br />

is best seen in the longitudinal plane,<br />

appearing as a slightly rounded or triangular<br />

structure on the superior pole of the<br />

testis. Visualization of the epididymis is<br />

often easier when a hydrocele is present.<br />

When evaluating a palpable mass by<br />

ultrasound, the primary goal is localization<br />

of the mass (intratesticular versus<br />

extratesticular) and further characterization<br />

of the lesion (cystic or solid). With<br />

rare exception, solid intratesticular masses<br />

should be considered malignant.<br />

While most extratesticular masses are<br />

benign, a thorough evaluation must be<br />

performed. If an extratesticular mass has<br />

any features suspicious of malignancy it<br />

must be removed.<br />

The sonographic appearance of testicular<br />

tumours reflects their gross morphology<br />

and underlying histology. Most<br />

tumours are hypoechoic compared to the<br />

surrounding parenchyma. Other tumours<br />

can be heterogeneous with areas of<br />

increased echogenecity, calcifications,<br />

and cyst formation {211,378,927,1007,<br />

2194,2347}. Although larger tumours<br />

tend to be more vascular than smaller<br />

tumours, colour Doppler is not of particular<br />

use in tumour characterization but<br />

does confirm the mass is solid {1126}.<br />

Epididymal masses are more commonly<br />

benign. It can, however, be difficult to differentiate<br />

an epididymal mass from one<br />

originating in the spermatic cord or other<br />

paratesticular tissues. This is especially<br />

true in the region of the epididymal body<br />

and tail where normal structures can be<br />

difficult to visualize.<br />

Since ultrasound is easily performed,<br />

inexpensive, and highly accurate, magnetic<br />

resonance (MR) imaging is seldom<br />

needed for diagnostic purposes. MR<br />

imaging can, however, be a useful problem<br />

solving tool and is particularly helpful<br />

in better characterizing extratesticular<br />

solid masses {507,2362}. Computed<br />

tomography (CT) is not generally useful<br />

for differentiating scrotal pathology but is<br />

Table 4.02<br />

Overview of the three different subgroups of testicular germ cell tumours, characterized by age at clinical<br />

presentation, histology of the tumour, clinical behaviour and genetic changes.<br />

Age of the patient at<br />

clinical presentation<br />

(years)<br />

Adolescents and<br />

young adults<br />

(i.p. 15-45)<br />

Elderly<br />

(i.p. over 50)<br />

Histology of the<br />

tumour<br />

0-5 Teratoma and/or<br />

yolk sac tumour<br />

Seminoma<br />

Non-seminoma<br />

(embryonal carcinoma,<br />

teratoma, yolk<br />

sac tumour,<br />

choriocarcinoma)<br />

Spermatocytic<br />

Seminoma<br />

* found in all invasive TGCTs, regardless of histology.<br />

Clinical behaviour<br />

Benign<br />

Malignant<br />

Malignant<br />

Malignant<br />

Benign, although can<br />

be associated with<br />

sarcoma<br />

Chromosomal<br />

imbalances<br />

Not found<br />

Loss: 6q<br />

Gain: 1q , 20q, 22<br />

Aneuploid, and<br />

Loss: 11, 13, 18, Y<br />

Gain: 12p*, 7, 8, X<br />

Gain: 9<br />

the primary imaging modality used for<br />

tumour staging.<br />

Tumour markers<br />

There are two principal serum tumour<br />

markers, alpha fetoprotein (AFP) and the<br />

beta subunit of human chorionic gonadotropin<br />

(ßhCG). The former is seen in<br />

patients with yolk sac tumours and teratomas,<br />

while the latter may be seen in<br />

any patients whose tumours include syncytiotrophoblastic<br />

cells.<br />

AFP is normally synthesized by fetal yolk<br />

sac and also the liver and intestine. It is<br />

elevated in 50-70% of testicular germ<br />

cell tumours and has a serum half life of<br />

4.5 days {305,1333}.<br />

hCG is secreted by placental trophoblastic<br />

cells. There are two subunits, alpha<br />

and beta, but it is the beta subunit with a<br />

half life of 24-36 hours that is elevated in<br />

50% of patients with germ cell tumours.<br />

Patients with seminoma may have an elevation<br />

of this tumour marker in 10-25% of<br />

cases, and all those with choriocarcinoma<br />

have elevated ßhCG {1333}.<br />

If postorchiectomy levels do not decline<br />

as predicted by their half lives to appropriate<br />

levels residual disease should be<br />

suspected. Also a normal level of each<br />

marker does not necessarily imply the<br />

absence of disease.<br />

Lactate dehydrogenase (LDH) may also<br />

be elevated, and there is a direct relationship<br />

between LDH and tumour burden.<br />

However, this test is nonspecific<br />

although its degree of elevation correlates<br />

with bulk of disease.<br />

Tumour spread and staging<br />

The lymphatic vessels from the right testis<br />

drain into lymph nodes lateral, anterior,<br />

and medial to the vena cava. The left<br />

testis drains into lymph nodes distal, lateral<br />

and anterior to the aorta, above the<br />

level of the inferior mesenteric artery.<br />

These retroperitoneal nodes drain from<br />

the thoracic duct into the left supraclavicular<br />

lymph nodes and the subclavian vein.<br />

Somatic genetics<br />

Epidemiology, clinical behaviour, histology,<br />

and chromosomal constitution<br />

define three entities of germ cell tumours<br />

(GCTs) in the testis {1540,1541,1965}:<br />

teratomas and yolk sac tumours of<br />

neonates and infants, seminomas and<br />

non-seminomas of adolescents and<br />

young adults, the so called TGCTs, and<br />

the spermatocytic seminomas of elderly.<br />

Germ cell tumours<br />

223

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