The pathogenesis of pseudoachalasia: a clinicopathologic study of 13 cases of a rare entity

Our plain-English summary of The pathogenesis of pseudoachalasia: a clinicopathologic study of 13 cases of a rare entity, by W. Liu, W. Fackler, T.W. Rice, et al (The American Journal of Surgical Pathology, 2002).

The study

• Authors: W. Liu, W. Fackler, T.W. Rice, J.E. Richter, E. Achkar, J.R. Goldblum
• Journal: The American Journal of Surgical Pathology
• Published: 2002;26(6):784-8
• Cited by: 69 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Pseudoachalasia is an esophageal motor disorder usually associated with malignancy that has clinical, radiographic, and manometric findings that are often indistinguishable from primary achalasia. There are few reports examining the histologic features of the associated neoplasms and their relationship with the esophageal myenteric plexus. We studied the clinical and pathologic features of 13 cases of pseudoachalasia seen at our institution between 1979 and 1999. Detailed clinical and radiographic data were obtained from medical records. In all cases available histologic material was reviewed to confirm the presence and type of associated neoplasm. When possible, the relationship of the neoplasm to the esophageal myenteric plexus was examined. In selected cases immunohistochemical stains were performed to further evaluate this relationship. All patients had clinical, radiographic, and manometric features similar to primary achalasia. The cohort included seven men and six women, age range 24-79 years (median 61 years). Associated neoplasms included esophageal adenocarcinoma arising in Barrett's esophagus (n = 1), adenocarcinoma of the esophagogastric junction (n = 7), metastatic renal cell carcinoma to the esophagogastric junction (n = 1), breast adenocarcinoma (n = 1), pulmonary small cell carcinoma (n = 1), pleural malignant mesothelioma (n = 1), and mediastinal fibrosis (n = 1). The mechanism of pseudoachalasia was consistent with neoplastic infiltration of the esophageal myenteric plexus in 11 cases. Neoplastic cells surrounded myenteric ganglion cells, which appeared normal in number and morphology. In the patient with pulmonary small cell carcinoma, there was no evidence of neoplastic infiltration of the esophagogastric junction, and anti-ANNA-1 antibody was detected, suggesting a paraneoplastic syndrome. Tissue obtained at the time of esophagomyotomy revealed lymphocytic myenteric inflammation and marked depletion of ganglion cells identical to that seen in primary achalasia. The mechanism pseudoachalasia in the patient with breast adenocarcinoma is uncertain, as there was no evidence of direct involvement of the esophagogastric junction. In summary, we describe 13 cases of pseudoachalasia resulting in a clinical syndrome indistinguishable from primary achalasia. The most common mechanism is direct involvement of the esophageal myenteric plexus by neoplastic cells. Rarely, a distant neoplasm may cause this syndrome as a paraneoplastic process.

In plain English

In this clinicopathologic case series, the authors reviewed 13 patients with pseudoachalasia seen at the Cleveland Clinic Foundation from 1979 to 1999. Pseudoachalasia resembles the swallowing disorder primary achalasia but occurs with a tumor or tumor-like process. The patients, seven men and six women, were aged 24 to 79 years. Eight had adenocarcinoma near the esophagogastric junction, one of them arising in Barrett's esophagus. One patient each had pleural malignant mesothelioma, mediastinal fibrosis, metastatic renal cell carcinoma, breast carcinoma and pulmonary small cell carcinoma. In the mesothelioma patient, the tumor involved the pleura and the esophagogastric junction, but its spread into the esophageal nerve network (myenteric plexus) was not confirmed under the microscope. The article does not mention asbestos. The authors judged at least 11 cases likely due to direct plexus invasion. The small cell carcinoma patient had anti-Hu antibodies and no ganglion cells in the plexus, suggesting a paraneoplastic process. The breast cancer mechanism was unknown. The authors concluded that direct invasion was the most common mechanism and that, rarely, a distant tumor may cause the syndrome as a paraneoplastic process.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Retrospective clinicopathologic case series (review of institutional files, medical records and pathology specimens, with immunohistochemistry in selected cases)
• Who was studied: 13 patients with pseudoachalasia (seven men, six women, aged 24 to 79 years, median 61) seen at the Cleveland Clinic Foundation, Cleveland, Ohio, from 1979 to 1999
• Exposure: Not applicable. The study examined tumors and tumor-like conditions associated with pseudoachalasia. It does not mention asbestos or any fiber exposure, including for the patient with pleural malignant mesothelioma.
• Main results:
  • Eight of the 13 patients (cases 1 to 8) had a primary adenocarcinoma arising near the esophagogastric junction, one of them Barrett's-related.
  • In the three adenocarcinoma cases with resection specimens examined under the microscope, tumor cells infiltrated in and around the myenteric plexus, and ganglion cell numbers appeared normal.
  • One patient (case 9, a 61-year-old woman) had pleural malignant mesothelioma that diffusely involved the pleura, including the diaphragmatic hernia at the esophagogastric junction.
  • The authors judged that at least 11 of the 13 cases were likely mediated by direct invasion of the tumor or tumor-like process into the myenteric plexus.
  • The patient with pulmonary small cell carcinoma (case 13) had anti-Hu (ANNA-1) antibodies and no tumor at the esophagogastric junction. Tissue from the esophagomyotomy showed complete absence of myenteric ganglion cells with lymphocytic inflammation, which the authors interpreted as consistent with a paraneoplastic syndrome.
  • In the patient with invasive ductal carcinoma of the breast (case 12), there was no evidence of involvement of the myenteric plexus, and the mechanism was not known.
• The authors' conclusion: The authors concluded that the most common mechanism is direct invasion of tumor cells into the esophageal myenteric plexus. They added that rarely the syndrome may be associated with a distant tumor as a paraneoplastic process.
• Limitations the authors state:
  • For the mesothelioma case (case 9) and the mediastinal fibrosis case (case 10), there was no microscopic documentation of myenteric plexus involvement.
  • In the mediastinal fibrosis case, only small biopsies were available, so a sclerosing tumor could not be excluded.
  • The exact site of origin of seven esophagogastric junction adenocarcinomas (distal esophagus versus proximal stomach) could not be determined.
  • For the renal cell carcinoma case, there was no tissue to confirm involvement of the myenteric plexus.
  • The authors could not exclude that the small cell carcinoma patient had two separate diseases (primary achalasia and the lung cancer).
  • Antibody testing was not done in the breast cancer case.

Topics

The National Library of Medicine indexes this study under subjects our site covers: Throat and laryngeal cancer.

Medical terms in this study, explained in our Lexicon: Neoplasm, Adenocarcinoma, Carcinoma, Malignant Mesothelioma, Fibrosis, Inflammation.

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