A rare case of primary esophageal Paget’s disease with underlying invasive adenocarcinoma

A 53-year-old man presented to Ruijin Hospital, having been followed up for 9 months with an esophageal lesion that had initially been detected during a routine esophagogastroduodenoscopy (EGD) and had been diagnosed histopathologically as a high grade intraepithelial neoplasia (HGIN).

The inpatient EGD revealed a flat (0-IIb) and slightly reddish lesion spanning from 25 to 38 cm of the middle-to-lower esophagus ([Fig. 1]). Magnifying endoscopy with blue-laser imaging (ME-BLI) identified an intrapapillary capillary loop (IPCL) pattern consistent with type B1 ([Fig. 1] d–f). Notably, a 5 × 5-mm slightly elevated area with mild congestion was observed within the lesion at 26 cm ([Fig. 1] a). The lesion remained unstained after the application of Lugolʼs solution and exhibited a partial pink-color sign from 30 to 33 cm of the esophagus, without any signs of deep invasion ([Fig. 1] g–i). Pathology and immunohistology of the biopsy specimen revealed CK7+, CK19+, P53(missense mutation), P40(little+), P63(little+), CK5/6(partial+), P16(little+), Ki67(70%+), AE1/AE3+, CAM5.2+, CK20(−), SOX-10(−), villin(−), HER2(0), SATB2(−), GCDFP-15(−) ([Fig. 2]), suggesting (i) extramammary Paget disease; (ii) invasive adenocarcinoma with Paget dissemination (M1 for the biopsy, more tissue would be needed for the evidence of invasive adenocarcinoma) [1] [2] [3] [4].

Fig. 1 Endoscopic features of the lesion before radiofrequency ablation on: a–c white-light endoscopy; d–f magnifying endoscopy with blue-laser imaging; g–i after staining with Lugol’s solution.

Fig. 2 Microscopic appearance of the of biopsy specimen on: a, b hematoxylin and eosin (H&E) staining; c–l immunohistochemical staining with: c CK7(+); d CK19(+); e P53(missense mutation); f P63(little+); g P40(little+); h CK20(−); i Ki67(70%+); j AE1/AE3(+); k CK5/6(partial+); l P16(−).

Given the size of the lesion and the patientʼs refusal to undergo surgery, we performed radiofrequency ablation therapy ([Fig. 3]). A follow-up EGD at 2 months post-treatment revealed persistent faintly red, rough mucosa extending from 26 to 38 cm of the esophagus ([Fig. 4]). Notably, brownish areas were observed within the lesion under ME with narrow-band imaging (ME-NBI), with the majority of type B1 IPCL with partial type R vessels ([Fig. 4] b, e). Subsequent Lugolʼs solution staining delineated an irregularly geographically distributed lesion with partial circumferential involvement ([Video 1]). A biopsy taken at 30 cm demonstrated a pink-color sign ([Fig. 4] f), confirming the previous diagnosis.

Fig. 3 Endoscopic images during radiofrequency ablation therapy.

Fig. 4 Endoscopic images during follow-up esophagogastroduodenoscopy 2 months after treatment on: a, d white-light imaging; b, e magnifying endoscopy with narrow-band imaging; c, f after staining with Lugol’s solution.

Features of a rare primary Paget’s disease of the esophagus under white-light endoscopy and magnifying endoscopy with blue-laser imaging/narrow-band imaging before and after radiofrequency ablation treatment.Video 1

The patient currently continues on regular EGD follow-up every 3 months at his local hospital. If the lesion were to worsen during follow-up, chemoradiotherapy would be considered.

Endoscopy_UCTN_Code_CCL_1AB_2AC

Conflict of Interest

The authors declare that they have no conflict of interest.

• References

• 1 Matsukuma S, Aida S, Shima S. et al. Pagetʼs disease of the esophagus. A case report with review of the literature. Am J Surg Pathol 1995; 19: 948-955
• 2 Liu X, Zhang D, Liao X. Paget cells of the esophagus: A clinicopathologic and immunohistochemical study of 10 cases. Pathol Res Pract 2023; 242: 154345
• 3 Abraham SC, Wang H, Wang KK. et al. Paget cells in the esophagus: assessment of their histopathologic features and near-universal association with underlying esophageal adenocarcinoma. Am J Surg Pathol 2008; 32: 1068-1074
• 4 Lu C, Jiang N, Shi L. et al. Primary Pagetʼs disease with infiltrating adenocarcinoma of esophagus: report of case. Zhonghua Bing Li Xue Za Zhi 2023; 52: 736-738

Publication History

Article published online:
16 August 2024