Raphaëlle Barnoud

A malignant gastrointestinal stromal tumour in a patient with multiple endocrine neoplasia type 1

Loss of heterozygosity for polymorphic markers flanking the multiple endocrine neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet tumours from subjects with MEN-1 has been well documented and has led to the hypothesis that the MEN-1 gene functions as a recessive tumour suppressor gene. We report a case of MEN-1 with duodeno-pancreatic gastrinoma, parathyroid hyperplasia, pituitary adenoma, adrenal adenoma, and lipomas, whose rare association with a malignant gastrointestinal stromal tumour (GIST) represents an undescribed combination. MEN-1 mutation in this family was shown as a frameshift (1607delA) in exon 10. To assess the role of the MEN-1 gene in the pathogenesis of tumours less commonly associated with MEN-1, we studied GIST DNA for loss of the unaffected MEN-1 gene allele. Stromal tumour and peripheral leucocyte DNAs from our patient were examined for loss of heterozygosity using the PYGM microsatellite polymorphism and an intragenic polymorphism (D418D in exon 9) in the MEN-1 gene. We showed no evidence for loss of the wild-type MEN-1 allele in GIST. The MEN-1 germline inactivating mutation 1607delA-ter558 in exon 10 was detected in the stromal tumour DNA, but no somatic mutation in the wild-type MEN-1 allele in GIST DNA was detected. Occurrence of GIST could be consistent with the possibility that this MEN-1-related uncommon neoplasm arose independently by a mechanism unrelated to the MEN-1 gene.

Fièvre prolongée révélatrice d’une pseudotumeur inflammatoire rénale

Resume Introduction. – Les pseudotumeurs inflammatoires sont des formations benignes pouvant etre a l’origine de signes locaux ou generaux. La localisation renale semble exceptionnelle, et aucun cas de pseudotumeur inflammatoire renale a l’origine d’une fievre nue n’a ete rapporte. Exegese. – Les auteurs rapportent le cas d’un patient presentant une fievre avec alteration de l’etat general et syndrome inflammatoire marque, sans point d’appel. Une tomodensitometrie realisee a titre systematique mettait en evidence une masse renale. Apres nephrectomie, le diagnostic de pseudo-tumeur inflammatoire renale etait porte. L’exerese chirurgicale de cette formation a permis la resolution complete du tableau clinique et biologique. Conclusion.– Bien que rare, le diagnostic de pseudotumeur inflammatoire doit etre evoque lors des fievres nues. Le pronostic est excellent.Introduction. – Inflammatory pseudo-tumors (IPT) are benign neoplasms associated with local or general manifestations. Renal localization seems exceptional, and no case of fever of unknown origin caused by renal inflammatory pseudo-tumors have been reported. Exegesis. – The authors report the case of a man presenting fever of unknown origin and inflammatory syndrome. Computerized tomography showed a renal mass. Nephrectomy was performed, and renal inflammatory pseudo-tumor was diagnosed. After surgical exeresis, the clinical and biological abnormalities vanished. Conclusion. – This rare diagnosis must be considered in these situations. The outcome is excellent.

Foreign body histiocytosis reaction after hip replacement with concomitant metastatic adenocarcinoma in the same lymph node

Infiltration of regional lymph nodes by macrophages has been shown after total joint arthroplasty. These pelvic lymph nodes were obtained most often from patients during staging procedures for carcinoma and may be a diagnostic pitfall in the frozen section diagnosis of nodal metastasis. We report an unusual case of association in the same lymph node between histiocytosis and prostatic carcinoma metastasis. Histiocytosis was caused by wear debris from two different prostheses. Inductively coupled plasma mass spectrometry verified this diagnosis.

In-111 pentetreotide scintigraphy to monitor nonsecreting neuroendocrine tumors

Nonsecreting neuroendocrine tumors pose problems because of the absence of hypersecretion symptoms. Such tumors are difficult to monitor, because recurrence can be detected only through morphologic evaluation, which lack sensitivity. A 66-year-old woman was evaluated by In-111 pentetreotide scintigraphy after the chance discovery of a nonsecreting neuroendocrine tumor. This revealed a single metastasis that could not be visualized by other imaging techniques, and the scintigraphic results were helpful for the surgical procedure. This clinical case illustrates the crucial role of pentetreotide scintigraphy in diagnosing neuroendocrine tumors and assessing their spread.