Biliary cystadenoma with mesenchymal stroma of the liver: Correlation between unusual MR appearance and pathologic findings

We reported a case of the biliary cystadenoma of the liver. The cystic mass had labulation and septation and showed marked hyperintensity on T1-weighted images and hypointensity on T2-weighted images; MR findings were very unusual for cystadenoma. The content of the cystic mass was jelly-like, thick mucinous fluid without intracystic hemorrhage. We concluded that these unusual signal intensities of the cyst were due to hyperproteinous mucinous fluid.     

Familial occurrence of differentiated,nonmedullary thyroid carcinoma

Familial occurrence of differentiated, nonmedullary thyroid carcinoma in 23 patients from 11 families is reported. Five patients were male and 18 were female. The familial relationship of patients was parent and child in 12 cases from 6 families, and siblings in 11 cases from 5 families. Carcinoma of other organs was noted in other members in 8 families. Histological examination revealed 18 papillary, 2 follicular, and 2 anaplastic carcinomas (the 2 anaplastic carcinomas were considered to be transformed from preexisting differentiated carcinoma). In 1 case, the histological type was unknown. The average diameter of the primary lesion was 29.9 mm. Cervical lymph node metastasis was found in 77.8% and local recurrence in 28.6% of the patients. Solid and invasive growth was dominant. On HLA typing, phenotypes of B₇ and DR₁ were significantly redominant in familial patients compared with nonfamilial patients and normal Japanese. Moreover, the haplotype of B₇-C_w7-DR₁ was observed in 5 of 13 patients tested. It is suggested from these observations that some types of differentiated, nonmedullary thyroid carcinoma may show familial occurrence and that they may have common factors with regard to the genetic and immunologic basis of the disease.

---

Resumen Se informa la ocurrencia familiar de carcinoma bien diferenciado, no medular, de tiroides en 23 pacientes provenientes de 11 familias, 5 hombres y 18 mujeres. La relación familiar fue padre e hijo en 12 casos de 6 familias, y hermanos en 11 casos de 5 familias. Se observé la presencia de carcinoma de otros órganos en otros miembros de 8 familias. El examen histopatológico reveló 18 carcinomas papilares, 2 foliculares, y 2 anaplásicos (los 2 fueron considerados como transformación de carcinomas diferenciados preexistentes). En un caso no fue conocido el tipo histológico. El diámetro promedio de la lesión primaria fue 29.9 mm. Se hallaron metástasis en ganglios cervicales en 77.8% de los pacientes y recurrencia local en 28.6%. El crecimiento sólido e invasivo apareció como característica dominante. En la tipificación HLA aparecieron como significativamente predominantes los fenotipos de B₇ y DR₁ en pacientes familiares en comparación con pacientes no familiares y japoneses normales. Por otra parte, el halotipo de B₇-C_W7-DR₁ fue observado en 5 de 13 pacientes investigados.Como resultado de estas observationes se sugiere que algunos tipos de carcinomas diferenciados, no medulares, pueden demostrar ocurrencia familiar y que pueden poseer factores comunes relacionados con las bases genéticas e inmunológicas de la enfermedad.

---

Résumé On a étudié les caratéristiques du cancer de la thyroïde, dans sa variété différenciée non médullaire, survenu chez 23 patients provenant de 11 familles. Cinq patients étaient des hommes, 18 des femmes. La relation familiale était parent/enfant dans 12 cas provenant de 6 familles, et frère/soeur dans 11 cas provenant de 5 familles. Des membres de 8 autres familles présentaient un cancer d'un autre organe. Il y avait 18 cancers papillaires, 2 cancers folliculaires, et 2 cancers anaplasiques (on a considéré que les 2 cancers anaplasiques étaient des transformations à partir de cancers différenciés préexistants). Dans un cas, le type histologique était inconnu. Le diamètre moyen de la lésion primitive était de 29.9 mm. On a retrouvé des métastases ganglionnaires cervicales chez 77.8% des patients et une récidive locale chez 28.6%. Les tumeurs étaient principalement solides et invasives. Par rapport aux cancéreux non familiaux et à la population japonaise normale, il y avait plus de phénotypes B₇ et DR₁ au système HLA. L'haplotype B₇-C_W7-DR₁ était observé chez 5 des 13 patients testés.On suggère que certains types de cancer différenciés, non médullaires, ayant des facteurs communs génétiques et immunologiques, peuvent survenir dans une même famille.

---

---

Presented at the International Association of Endocrine Surgeons in Sydney, Australia, September, 1987.     

Divergent expression and localization of aquaporin 5, an exocrine-type water channel,in the submandibular gland of Sprague-Dawley rats

By Western blot analysis, the expression level of aquaporin (AQP) 5 in the submandibular gland (SMG) was found to be different among individual rats of the Sprague-Dawley (SD) strain. Such differences were observed for AQP5 but not for AQP1 and consequently the SD strain was divided into two groups, one expressing a high level of AQP5 and the other a low one. The difference in average intensity of expression between the two groups was more than twofold. Immunohistochemical analysis of the SMG demonstrated that the AQP5 protein was localized in the basal and apical/lateral plasma membrane of acinar cells in rats expressing the high level of AQP5. In the rat expressing the low level, however, this channel protein was localized strongly in the apical/lateral plasma membrane, but only very weakly in the basal membrane of the acinar cells. Such a diverse localization of AQP5 was confirmed by Western blotting as well. Breeding between brother and sister was repeated for two times within high expressers and low expressers to obtain the third generation progenies (F2); the AQP5 level of the SMG in the third generation (F2 rats) from high expressers was significantly higher than the F2 from low expressers. Our present study suggests the existence of genetic variation in the expression of a water channel protein, AQP5, in rats.     

Bcl11b is required for differentiation and survival of alphabeta T lymphocytes

The gene Bcl11b, which encodes zinc finger proteins, and its paralog, Bcl11a, are associated with immune-system malignancies. We have generated Bcl11b-deficient mice that show a block at the CD4-CD8- double-negative stage of thymocyte development without any impairment in cells of B- or gammadelta T cell lineages. The Bcl11b-/- thymocytes showed unsuccessful recombination of V(beta) to D(beta) and lacked the pre-T cell receptor (TCR) complex on the cell surface, owing to the absence of Tcrb mRNA expression. In addition, we saw profound apoptosis in the thymus of neonatal Bcl11b-/- mice. These results suggest that Bcl11b is a key regulator of both differentiation and survival during thymocyte development.     

No association between the Pro197Leu polymorphism in the glutathione peroxidase (GPX1) gene and schizophrenia

OBJECTIVE: Oxidative stress such as free radical-mediated neuronal dysfunction may be involved in the pathophysiology of schizophrenia. The human glutathione peroxidase (GPX1) is a selenium-dependent enzyme, which plays an important role in the detoxification of free radicals. We therefore hypothesized that the GPX1 gene, which is located on chromosome 3p21.3, may be involved in the pathophysiology of schizophrenia. The aim of this study is to examine whether a potentially functional polymorphism, a proline (Pro) to leucine (Leu) substitution at codon 197 (Pro197Leu) of the human GPX1 gene, is associated with susceptibility to schizophrenia. METHODS: We genotyped the Pro197Leu polymorphism in a total of 113 nuclear families that had a proband with schizophrenia. Genetic association was tested using the transmission disequilibrium test (TDT), the sib transmission disequilibrium test (STDT), and the family-based association test (FBAT). RESULTS: The minor allele (Leu) frequency was calculated to be 0.282. We could not find significant transmission disequilibrium of the alleles for the Pro197Leu polymorphism in the GPX1 gene in association with the presence of schizophrenia in our family sample (TDT, chi2=0.03, degrees of freedom=1, P=0.86; combined TDT-STDT, Z'=-0.052, P=0.47; FBAT, Z=0.000, P=1.000). CONCLUSION: The results of this study suggest that the GPX1 polymorphism is unlikely to be associated with susceptibility to schizophrenia.     

A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy

Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation, and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed congenital fiber type disproportion (CFTD) myopathy. This is the first case report of 1p36 deletion associated with CFTD. This association may indicate that one of the CFTD loci is located at 1p36. Ski proto-oncogene −/− mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome. Because fluorescent in situ hybridization analysis revealed that the human SKI gene is deleted in our patient, some genes in 1p36, including SKI proto-oncogene, may be involved in muscle hypotonia and delayed motor development in this syndrome. Received: March 4, 2002 / Accepted: July 7, 2002     

BRONCHIAL PLASMACYTOMA IDENTIFIED BY IMMUNOPEROXIDASE TECHNIQUE ON PARAFFIN EMBEDDED SECTION

A case of bronchial plasmacytoma occurring in a 57- year-old housewife is reported. She had had the productive cough and the "abnormal shadow" in the right lower lobe for three years before admission. On bronchocopy, a tumor was found in the right main bronchus, large enough to obstruct the air way. The tumor was resected through rigid bronchoscope. Histological impression was "plasmacytoma with local amyloid deposit." M-protein was never detected in the serum or urine. Applying the immunoperoxidase technique for the paraffin section, the plasma cells were found to contain only a single type of immunoglobulin, Ig G-L. The differential diagnosis between plasmacytoma and plasma cell granuloma was made, and plasmacytoma was considered to be one type of extranodal malignant lymphoma.