Diagnostic accuracy of endoscopic ultrasonography for rectal neuroendocrine neoplasms

Abstract

Aim: To investigate the diagnostic accuracy of endoscopic ultrasonography (EUS) for rectal neuroendocrine neoplasms (NENs) and the differential diagnosis of rectal NENs from other subepithelial lesions (SELs).

Methods: The study group consisted of 36 consecutive patients with rectal NENs histopathologically diagnosed using biopsy and/or resected specimens. The control group consisted of 31 patients with homochronous rectal non-NEN SELs confirmed by pathology. Epithelial lesions such as cancer and adenoma were excluded from this study. One EUS expert blinded to the histological results reviewed the ultrasonic images. The size, original layer, echoic intensity and homogeneity of the lesions and the perifocal structures were investigated. The single EUS diagnosis recorded by the EUS expert was compared with the histological results.

Results: All NENs were located at the rectum 2-10 cm from the anus and appeared as nodular (n = 12), round (n = 19) or egg-shaped (n = 5) lesions with a hypoechoic (n = 7) or intermediate (n = 29) echo pattern and a distinct border. Tumors ranged in size from 2.3 to 13.7 mm, with an average size of 6.8 mm. Homogeneous echogenicity was seen in all tumors except three. Apart from three patients (stage T2 in two and stage T3 in one), the tumors were located in the second and/or third wall layer without involvement of the fourth and fifth layers. In the patients with stage T1 disease, the tumors were located in the second wall layer only in seven cases, the third wall layer only in two cases, and both the second and third wall layers in 27 cases. Approximately 94.4% (34/36) of rectal NENs were diagnosed correctly by EUS, and 74.2% (23/31) of other rectal SELs were classified correctly as non-NENs. Eight cases of other SELs were misdiagnosed as NENs, including two cases of inflammatory lesions and one case each of gastrointestinal tumor, endometriosis, metastatic tumor, lymphoma, neurilemmoma, and hemangioma. The positive predictive value of EUS for rectal NENs was 80.9% (34/42), the negative predictive value was 92.0% (23/25), and the diagnostic accuracy was 85.1%.

Conclusion: EUS has satisfactory diagnostic accuracy for rectal NENs with good sensitivity, but unfavorable specificity, making the differential diagnosis of NENs from other SELs challenging.

Keywords: Diagnosis; Endoscopic ultrasonography; Neuroendocrine neoplasms; Rectum.

Figure 1

Endoscopic characteristics of rectal neuroendocrine neoplasms. A: A yellowish hemispherical bulge overlaying intact mucosa; B: The appearance of a pyknic vascular net on the surface of a hemispherical bulge; C: A hummocky bulge with erosion on the surface; D: A flat-shaped neuroendocrine neoplasm.

Figure 2

Endoscopic ultrasonography findings of rectal neuroendocrine neoplasms. A: An egg-shaped lesion within the mucosa with an intermediate echo pattern and distinct border; B: A homogenous hypoechoic lesion with a distinct border within the submucosa; C: A round medium-echo lesion with a distinct border within the submucosa; D: A nodular neuroendocrine neoplasm located in both the mucosa and submucosa.

Figure 3

Endoscopic ultrasonography characteristics of 8 rectal non-neuroendocrine neoplasm subepithelial lesions misdiagnosed as neuroendocrine neoplasms. A: GIST confirmed by pathology after endoscopic submucosal dissection (ESD) presents as a round homogenous hypoechoic lesion within the submucosa; B: Rectal endometriosis identified by endoscopic biopsy shows a hypoechoic lesion with full-thickness infiltration, and irregular and undefined margins, extending outside the rectal wall; C: A nodule with fibrosis and degeneration shown as a heterogeneous hyperechoic nodule within the submucosa with a blurry border on EUS; D: EUS characteristics of an inflammatory lesion identified by pathology from excisional specimen; E: A metastatic tumor secondary to porta carcinoma of the bile duct mimicking NEN with local infiltration of the rectal wall; F: Rectal lymphoma shown as a heterogeneous hypoechoic lesion infiltrating the 2^nd-3^rd-4^th wall layers; G: Rectal neurilemmoma shown as a heterogeneous intermediate lesion with an irregular anechoic area representing necrosis; H: Rectal hemangioma shown as an SEL with honeycomb echo denoting sinusoidal blood. EUS: Endoscopic ultrasonography; SEL: Subepithelial lesion; NEN: Neuroendocrine neoplasm; GIST: Gastric small gastrointestinal tumor.