A case of heterotopic pancreas mimicking an intestinal neuroendocrine tumor in 18F-DOPA PET-CT and a review of the literature

18-Fluoro-L-dihydroxyphenylalanine positron emission tomography/computed tomography (18F-DOPA PET-CT) is a nuclear medicine imaging modality indicated for the diagnosis and staging of neuroendocrine tumors (NETs), particularly for the midgut tumors, due to its excellent sensitivity and specificity. Its performance for the detection of foregut-derived NETs (duodenopancreas and proximal jejunum) and for the detection of hindgut-derived NETs is poor and inferior to PET somatostatin receptor imaging such as DOTATOC PET-CT and even inferior to somatostatin analog scintigraphy (octreoscan). There are few studies in the literature on heterotopic pancreas (HP) which is a rare entity, and which can be in some cases a false positive in 18F-DOPA PET-CT. We report a case of HP showing focal uptake on 18F-DOPA PET-CT mimicking an intestinal NET. This case suggests that HP should be included as a possible false positive on 18F-DOPA PET-CT.     

Fine needle aspiration cytologic features of hepatic metastasis of granulosa cell tumor of the ovary. Differential diagnosis

The cytologic findings from a fine needle aspiration biopsy of hepatic metastases of a granulosa cell tumor are described. While the cytologic features of the tumor were characteristic, the early recurrence in an unusual site makes this case noteworthy. The differential diagnosis of granulosa cell tumors from other metastatic and primary liver tumors is discussed.     

Tumorous cultures of Crepis capillaris: chromosomes and growth

Different crown-gall culture strains of Crepis capillaris derived from haploid and diploid tumors were studied karyologically during the period of 18 transfers (18–20 months). The very low proportion of mitotic anomalies observed in the first transfers is in agreement with the generally accepted assumption that chromosomal changes are not involved in the initiation of tumors. However, it has been established that an intimate relationship exists between chromosome aberrations and the further development of the tumors. Morphological and physiological changes which occurred in some strains and substrains were invariably associated with cytologieal changes. The results are discussed in connection with similar phenomena described for animal tumors.     

Transferrin variants in Tuscany (Italy). Evidence for two “new” Tf alleles

Summary In this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p trisomy phenotype this patient presented with multiple cutaneous leiomyomata. The question is raised whether the concurrence of the chromosomal anomaly and the multiple skin tumors in this patient indicates another example of a specific chromosomal deletion (18pter) in a dominantly inherited multiple human tumor.     

Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18]

Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients present mental retardation, hypotonia and facial dismorphisms. The different degree of mental retardation and the clinical signs are in relation to the different size of deletions or trisomies of the short or long arm of chromosome 18. In the case with mosaicism 18p-/iso18q the phenotype is determined from the chromosomal abnormality more frequent in the cells (18p-).     

Assessment of 18FDG PET for diagnosis of pancreatic tumors

The paper examines the informational value of positron emission tomography (PET) using 18FDG in the diagnosis of malignant of neoplasms of the pancreas and in the estimation of the extent of a metastatic involvement. Forty-four patients (26 males and 18 females whose age ranged from 28 to 60 years) with histologically verified cancer of the pancreas were examined. The study was conducted in the whole body mode on an Ecat Exact 47 positron emission tomograph following 70-90 minutes of administration of 18FDG, 370-420 MBk. To assess the findings, the differential accumulation ratio (DAR) of formation/liver was calculated. The mean DAR in patients with benign and malignant pancreatic tumors was 1.17 +/- 0.064 and 4.90 +/- 0.3 (p < 0.05). There was a false positive case in a patient with an exacerbation of chronic pancreatitis in the study. A relationship was observed between the level of tumor tissue 18FDG capture and the degree of malignancy. PET scanning in the whole body mode estimates the extent of a tumorous process. The authors' data show that the liver was most commonly involved in a metastatic process (96.6%). Hence, 18FDG PET is a highly informative technique in the diagnosis of malignant pancreatic tumors and in the estimation of the extent of a metastatic process and permits a differential diagnosis between benign and malignant tumors.     

Tumeurs mammaires bilatérales chez une jeune femme : pensez à réaliser une TEP/TDM au FDG. À propos d’un cas de discordance entre l’imagerie sénologique et la TEP/TDM

This case report shows the potential role of FDG (18F) PET/CT in characterization of breasts tumors in a young female without any risk factor of malignancy.     

Mucoepidermoid tumors of the bronchus. Ultrastructural and immunohistochemical study. Histiogenic correlations

Bronchial mucoepidermoid tumors are uncommon neoplasms, morphologically similar to their salivary gland counterpart. The histogenesis is controversial. The aim of this study is to identify myoepithelial cells and speculate on their role in the origin of these tumors. METHODS AND RESULTS: Sixteen bronchial mucoepidermoid tumor surgical specimens were formalin-fixed, paraffin-embedded and studied using a panel of nine antibodies in order to identify a myoepithelial differentiation. Additional antigens against several cytokeratins were performed in four cases and five of the biopies were studied using the electron microscopy. The different types of cells of the primary bronchial mucoepidermoid tumor (mucous luminal, intermediate and squamous) reacted strongly against AE1, CK7, 34bE12 and weakly with AE3, CK18 and CK8/18/19. S-100, alpha-smooth muscle actin, muscle actin HHF35 and alpha-actinin were consistently negative in all cell types. CD10 was positive in very few cells in just one case. Conclusion: The immunohistochemical and the ultrastructural study of bronchial mucoepidermiod tumors support a ductal unit origin, without a myoepithelial participation.     

18p- Mosaicism

Summary The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7–8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. To our knowledge the present report is the fifth one of 18p- mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.     

Carcinoma of the breast with malignant epithelial giant cells. Needle aspiration cytology, immunocytochemistry and electron microscopy in a rare case in a woman under 30.

Needle aspiration cytology, immunocytochemistry and electron microscopic findings are described in a case of rare breast carcinoma with bizarre, malignant giant cells in a young female under age 30. The malignant tumors were found in both breasts; the first one was diagnosed when the patient was 23 years of age and the second one in the contralateral breast four years later. Based on our present findings, and in keeping with a similar case recently described by us as occurring in an elderly female, we thought that the bizarre giant cells in this rare breast carcinoma were of epithelial origin. The differential diagnosis of other conditions that may be associated with giant cells in breast aspirates is discussed.     

Neutral Glycosphingolipids and Ceramide Composition of Ethylnitrosourea-Induced Rat Neural Tumors: Accumulation of Ceramide in Tumors

Abstract: Experimental rat neural tumors in offspring were induced transplacentally by a single injection of a chemical carcinogen, ethylnitrosourea, 20 mg/kg body weight, in the tail vein of the mother. The neutral glycosphingolipid, sulfatide, and ceramide composition of the tumors and the normal tissues from which the tumors originated is described. The content of nonhydroxy fatty acid (NFA) and hydroxy fatty acid (HFA) containing ceramide in all the neural tumors so far examined was significantly increased compared with the corresponding normal neural tissue. Some 8 to 18 mol% of total neutral glycolipids was as ceramide in neurinomas, oligodendrogliomas, and menin-giomas. Lactosylceramide in normal neural tissues was about 1 mol% of the total neutral glycosphingolipids. In various neural tumors lactosylceramide increased up to 8 mol%. NFA- and HFA-containing cerebrosides constitute 94–100% of the neutral glycosphingolipids in normal neural tissues. In various neural tumors the mol percent of cerebrosides was significantly reduced. A high performance liquid chromatographic method was modified to analyze simultaneously ceramides, cerebrosides, and higher neutral glycosphingolipids.     

Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion,with a note for genetic counselling

Summary A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.     

Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)

46,XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We describe a case of an 18 years old patient presented to us with a chief complain of primary amenorrhea. Chromosomal analysis revealed a 46,XY karyotype. A molecular investigation was undertaken in an attempt to determine mutations in SRY and AR genes through DNA sequencing. Mutations were shown to be absent. The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out. The patient, who is considered as female, was placed on estrogen replacement therapy, while bilateral prophylactic laparoscopic gonadectomy was programmed due to the high prevalence of gonadal tumors in this syndrome. No signs of malignance were detected in the gonadal tissue, which predicts that an intact SRY gene is usually, but not always, not related to the formation of malignancies like dysgeminomas or gonadoblastomas.     

A neonatal case of left ventricular noncompaction associated with trisomy 18

A neonatal case of left ventricular non-compaction associated with trisomy 18: Left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy and exact etiology is still unknown. Trisomy 18 is the second most common autosomal trisomy in live-born infants. LVNC has been described in association with other dysmorphic features, association with trisomy 18 has not been reported previously in a neonate. LVNC broadens the cardiac anomalies associated with trisomy 18.     

Primary perivascular epithelioid cell tumor of the liver not related to hepatic ligaments: hepatic PEComa as an emerging entity

Primary perivascular epithelioid cell tumor (PEComa) of the liver is a very rare example of an emerging family of hepatic PEC tumors. Only few cases have been described so far. We report the case of a large but benign hepatic PEComa in a 53-year-old man without signs of tuberous sclerosis. In contrast to recently described PEC-derived liver tumors in children and young adults, this neoplasm was not related to the hepatic ligaments but had developed deeply within the liver substance. The neoplastic cells displayed the complete phenotype typical for PEComas, i.e. reactivity for several melanoma markers and for smooth muscle actin. The unique relationship of myoid tumor cells to the adventitia of blood vessels prompted us, in comparison with published findings obtained with angiomyolipomas, to comment on the possible origin of the still enigmatic perivascular epithelioid cells.     

Fine needle aspiration cytology diagnosis of papillary tumor of the pancreas

A case of papillary tumor of the pancreas in a young woman is reported in which the nature of the tumor was recognized preoperatively by fine needle aspiration (FNA) biopsy. The larger cell clumps in the aspirate had a branching papillary appearance in which multiple layers of tumor cells surrounded central vascular stalks. This perivascular clustering of tumor cells, resembling bunches of grapes, was reflected in the subsequent histologic material. Of interest was the presence of metachromatic globules in Wright-Giemsa-stained aspiration smears, corresponding to perivascular myxoid material seen in the histologic sections, which has been described so far, among pancreatic tumors, only among papillary-type tumors.     

Trisomy 16q21»qter

Summary A case of trisomy 16q secondary to a paternal 16/18 translocation is described. A comparison of this case with the few other cases of trisomy 16q described in the literature indicates that trisomy for the long arm of chromosome 16 results in a severely affected phenotype and early death. Conversely, patient with trisomy 16p do not have gross abnormalities. We postulate that the prenatal lethality of full trisomy 16 is mainly due to the trisomy for the long arm.     

Liver-cell adenoma in an epileptic man on barbiturates

The case of a 19-year-old epileptic man with a solitary hepatic adenoma is described. The tumor was 9 x 8.5 x 6.5 cm in size and microscopically consisted of cells similar in appearance to non-neoplastic hepatocytes, arranged in cords with slit-like sinusoids interposed. Bile ducts and portal tracts were conspicuously absent. Our patient was on antiepileptic drugs, among them phenobarbital which experimentally produces liver cell tumors in mice and rats.     

False morel mushroom gyromitra esculenta toxin: N-methyl-N-formylhydrazine carcinogenesis in mice

N-Methyl-N-formylhydrazine was administered in drinking water as a 0.0039% solution to randomly bred Swiss albino mice for life starting from 6 weeks of age. The compound induced tumors of lungs, livers, blood vessels, gall bladder and bile ducts. The tumor incidences in these five tissues were 77, 46, 21, 10 and 7%, while in the untreated controls they were 18, 1, 6, 0 and 0%, respectively. Histopathologically, the tumors were classified as adenomas and adenocarcinomas of lungs, benign hepatomas and liver cell carcinomas, angiomas and angiosarcomas of blood vessels, adenomas and adenocarcinomas of gall bladder and cholangiomas. The macroscopic and light microscopic involvement of the tissues with the tumors are described and some of them are illustrated. N-Methyl-N-formylhydrazine is an ingredient of the edible mushroom, the false morel Gyromitra esculenta. The findings are discussed from the viewpoint of a potential human health hazard.