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Aims The majority of patients with Down syndrome (DS), trisomy 21, have morphologically abnormal thymuses and present with intrinsic immunological abnormalities affecting mainly the cellular immune response. The aim of this study was to examine whether the expression of functionally important molecules is altered in thymic stromal cells in patients with DS. Methods and results We analysed thymic tissues from patients with trisomy 13 (n = 4), trisomy 18 (n = 14) and trisomy 21 (n = 13) for histological alterations, and for the expression of functionally important molecules such as β5t, a thymoproteasome subunit, and cathepsins L and S. In patients with trisomy 13 and trisomy 18, the thymus was morphologically normal or showed only mild depletion of cortical thymocytes. In contrast, the thymus showed variable histological changes in patients with trisomy 21; six of 13 cases showed severe depletion of thymocytes accompanied by the disappearance of thymic lobular architecture. In such thymuses, spindle-shaped keratin-positive cells were densely distributed, and expression of β5t, but not of cathepsin L, was markedly decreased. Conclusions The present study suggests that abnormal thymic architecture and decreased expression of functionally important molecules in thymic stromal cells may be involved in immunological abnormalities in DS patients.

Tsuji T, Togami S, Nomoto M, Higashi M, Fukukura Y, Kamio M, Yonezawa S & Douchi T (2011) Histopathology59, 55–62 Uterine cervical carcinomas associated with lobular endocervical glandular hyperplasia Aims: To investigate the clinicopathological features of cervical uterine carcinoma associated with lobular endocervical glandular hyperplasia (LEGH). Methods and results: Subjects comprised 12 patients with cervical carcinoma associated with LEGH. Carcinoma included nine invasive adenocarcinomas, two adenocarcinoma in-situ (AIS) and one microinvasive squamous cell carcinoma (SCC). Baseline characteristics, cervical cytology, human papilloma virus (HPV) status, immunohistochemistry, surgical procedures and clinical outcomes were investigated. There was a pair of adenocarcinoma cases in a mother and daughter unrelated to Peutz–Jeghers syndrome. In all patients, atypical cells were seen on cervical cytology (adenocarcinoma cells in 11 cases and SCC cells in one). All the 12 patients were positive for mucin antigen 6 (MUC6) in the LEGH component, while seven patients were positive for gastric mucin (HIK1083). HPV was detected only in the SCC component. One patient with adenocarcinoma stage Ib died of disease 4 years after radical hysterectomy. The others are currently alive 2–16 years postoperatively. Conclusions: The diagnosis of adenocarcinoma with LEGH is not always difficult. The prognosis of adenocarcinoma associated with LEGH may be better than previously expected. Adenocarcinoma with a LEGH component does not always develop into a highly aggressive minimal deviation adenocarcinoma.

To investigate the clinicopathological features of cervical uterine carcinoma associated with lobular endocervical glandular hyperplasia (LEGH).Subjects comprised 12 patients with cervical carcinoma associated with LEGH. Carcinoma included nine invasive adenocarcinomas, two adenocarcinoma in-situ (AIS) and one microinvasive squamous cell carcinoma (SCC). Baseline characteristics, cervical cytology, human papilloma virus (HPV) status, immunohistochemistry, surgical procedures and clinical outcomes were investigated. There was a pair of adenocarcinoma cases in a mother and daughter unrelated to Peutz-Jeghers syndrome. In all patients, atypical cells were seen on cervical cytology (adenocarcinoma cells in 11 cases and SCC cells in one). All the 12 patients were positive for mucin antigen 6 (MUC6) in the LEGH component, while seven patients were positive for gastric mucin (HIK1083). HPV was detected only in the SCC component. One patient with adenocarcinoma stage Ib died of disease 4 years after radical hysterectomy. The others are currently alive 2-16 years postoperatively.The diagnosis of adenocarcinoma with LEGH is not always difficult. The prognosis of adenocarcinoma associated with LEGH may be better than previously expected. Adenocarcinoma with a LEGH component does not always develop into a highly aggressive minimal deviation adenocarcinoma.