A neuroendocrine tumor of the small intestine with a karyotype of 46,XY,t(11;22).

Direct preparations of cells from a neuroendocrine carcinoma of the small intestine reveal a karyotype of 46,XY,t(11;22)(q25;q12). Though only 13 cells could be analyzed from both direct and 24 hour preparations, all revealed the translocation; no normal cell line was seen. The patient had not been treated at the time of biopsy. A similar translocation recently has been reported in a number of cases of Ewing's sarcoma and in peripheral neuroepithelioma. This common occurrence, along with the observation that a rearranged chromosome #22 with breakpoints at q11 or q12 are observed in other neoplasias including leukemia, suggests a possible causative role for these phenomena.

A severe infantile mucolipidosis. Clinical, biochemical, and pathologic features.

We studied a case of severe infantile mucolipidosis that fell within the clinical spectrum of mucolipidosis I. A 2,100-g girl was delivered by cesarean section at 30 weeks' gestation, after the development of polyhydramnios. Tense ascites and hepatomegaly were present at birth and persisted until her death at age 4 months. Although she was growth retarded, no dysmorphic features were evident. Mucopolysacchariduria was absent, and no lysosomal enzyme deficiencies were identified in cultures of fibroblasts. N-acetyl neuraminidase was not included in the assay. Excessive intracellular accumulation of material within membrane-bound vacuoles was demonstrated in all tissues examined by light and electron microscopy. This material had histochemical and ultrastructural characteristics of both mucopolysaccharides and lipids. The placental trophoblasts, hepatocytes, neurons, glomerular epithelium, and mononuclear phagocytes were most affected.

Primary adenomatous neoplasms of the middle ear: light and electron microscopic features of a group distinct from the ceruminomas.

The light and electron microscopic features of two primary adenomatous neoplasms of the middle ear are presented and compared with those cases in the literature. Primary adenomatous neoplasms of the middle ear appear to be derived from the lining epithelium of the middle ear and are distinct from the cercuminomas. They exhibit benign or indolently malignant behavior. Cytologic and histologic features are bland and uniform. Invasion of adjacent soft tissues and/or bone is the only histologic feature indicative of malignancy. Distant metastasis has not been reported. The duration and nature of the symptoms are of little diagnostic value. Radiographic and/or operative evidence of bone erosion reflects the aggressive potential of these neoplasms, although its absence does not exclude microscopic invasion. The primary adenomatous neoplasms of the middle ear recur locally if incompletely excised. Radical mastoidectomies and/or complete removal through the external auditory canal are curative.