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Detection of a Clonal BCL2 Gene Rearrangement in Tissues from a Patient with Whipple Disease

Thierry Fest, MD; Benedicte Pron, MD; Marie-Paule Lefranc, PhD; Catherine Pierre, MD; Regis Angonin, MD; Benoit de Wazieres, MD; Zohra Soua, MD; and Jean-Louis Dupond, MD
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From Hopital Universitaire Jean Minjoz, Besancon, France; Hopital Necker-Enfants Malades, Paris, France; and Institut de Genetique Moleculaire, Montpellier, France. Acknowledgments: The authors thank Francoise Ducret for technical assistance. Grant Support: By the Centre National de la Recherche Scientifique, the Ministere de l'Enseignement Superieur et de la Recherche, the Institut National de la Sante et de la Recherche, and the Ministere de l'Education et des Sciences de Tunisie. Requests for Reprints: Thierry Fest, MD, Laboratory of Pathology, National Cancer Institute, 9000 Rockville Pike, Building 10, Room 2N109, Bethesda, MD 20892. Current Author Addresses: Dr. Fest: Laboratory of Pathology, National Cancer Institute, 9000 Rockville Pike, Building 10, Room 2N109, Bethesda, MD 20892.


Ann Intern Med. 1996;124(8):738-740. doi:10.7326/0003-4819-124-8-199604150-00006
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Whipple disease is rare and has protean clinical manifestations that often mimic those of other pathologic conditions. Because no culture system for the causative organism exists, the diagnosis is made after microscopic examination of infected tissue. If the results of this examination are positive, small gram-positive rods appear as diastase-resistant intracytoplasmic inclusions on periodic acid-Schiff staining. The polymerase chain reaction (PCR) assay has recently been shown to be useful in confirming the diagnosis [1].

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Figure 1.
Studies in a patient with Whipple disease.Top left.Top right.Bottom left.Bottom right.32

Whipple disease in the mesenteric lymph nodes. Normal underlying architecture is destroyed and replaced by histiocytic cells with foamy cytoplasm and fatty cysts (original magnification × 250). Duodenum involvement with periodic acid-Schiff-positive foamy histiocytes in the lamina propria (original magnification × 250). Southern blot hybridization of polymerase chain reaction products with the 284 base-pair digoxigenin-labeled pWN1 probe. Lane 1 has a 1-kb DNA ladder serving as a size marker, lane 2 shows lymph node DNA, lane 3 shows blank water control, lane 4 shows bone marrow DNA, lane 5 represents a negative control extract from human spleen, and lane 6 represents a positive control with the clone pWN1 itself. Rearrangement of the BCL2 gene in different tested samples. Hybridization was done with a P-labeled 2.8-kb BCL2 mbr probe. Enzymes used are indicated below each lane. Lanes 1 to 3 represent the lymph node DNA; lanes 4 and 5 represent the bone marrow extract; and lanes 6 and 7 represent whole blood extract at the time of diagnosis and 3 months after treatment. The rearranged band from lane 6 has disappeared in lane 7. The normal germline bands are strong, and the rearranged bands are indicated by arrowheads.

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