Pancreatic Cystic Dysplasia (Dysgenesis) Presenting as a Surgical Pathology Specimen in a Patient with Multiple Malformations and Familial Ear Pits

Abstract

A peculiar 6 x 5 x 3 cm, multilobed, septated, cystic tumor presented in the tail of the pancreas in a 5-month-old infant with left ear pit, bilateral cleft palate, brachydactyly type B, and familial ear pits. This combination was not found previously reported. The cysts were lined by attenuated epithelium and PAS-positive, mucus-containing cells. These were keratin 8-, 18-, and 19-positive and CA 19.9-negative. Ductuloinsular complexes were present in the adjacent pancreatic tissue. Pancreatic cystic dysplasia (dysgenesis) may associate with several malformation syndromes. A similar lesion may present isolated as a tumor in the first year of life and has been reported under a variety of names (hamartoma, cystadenoma, and cyst). The lesion does not fit with the criteria of cystadenomas as seen in adults.

Keywords

brachydactyly type B childhood tumors cyst familial ear pits pancreas

Get full access to this article

View all access options for this article.

References

1. Flaherty MJ , Benjamin DR . Multicystic pancreatic hamartoma: A distinctive lesion with immunohistochemical and ultrastructural study. Hum Pathol 23:1309-1312, 1992

2. Amir G , Hurvitz H , Neeman Z , Rosenmann E . Neonatal cytomegalovirus infection with pancreatic cystadenoma and nephrotic syndrome. Pediatr Pathol 6:393-401, 1986

3. Warfel KA , Faught PR , Hull MT . Pancreatic cystadenoma in an infant: Ultrastructural study. Pediatr Pathol 8:559-565, 1988

4. Tyson RW , Ruyle SZ , Stork L , McGavran L , Hamed R . Serous pancreatic cystadenoma in children under 1 year of age: A report of two cases. Pediatr Dev Pathol 1:250-250 (abstract), 1998

5. Miles RM . Pancreatic cyst in the newborn. Ann Surg 149:576-581, 1959

6. Mares AJ , Hirsch M . Congenital cyst of the head of the pancreas. J Ped Surg 12:547-552, 1977

7. Hunter AGW , Jimenes C , Tawagi FGR . Familial renalhepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct syndrome? Am J Med Genet 41:201-207, 1991

8. Jaffe R . The pancreas. In Stocker JT , Dehner LP (eds): Pediatric pathology, vol 2, JB Lippincott Co., Philadelphia, pp. 791-823, 1992

9. KhSppel G . Pseudocysts and other non-neoplastic cysts of the pancreas. Semin Diagn Pathol 17:7-15, 2000

10.

10. Chang CH , Oerrin EV , Hertzler J , Brough AJ . Cystadenoma of the pancreas with cytomegalovirus infection in a female infant. Arch Pathol Lab Med 104:7-8, 1980

11.

11. Wilentz RE , Albores-Saavedra J , Hruban RH . Mucinous cystic neoplasms of the pancreas. Semin Diagn Pathol 17:31-42, 2000

12.

12. Compton CC . Serous cystic tumors of the pancreas. Semin Diagn Pathol 17:43-55, 2000

13.

13. Solcia E , Capella C , Kloppel G . Atlas of tumor pathology. Tumors of the pancreas. Third series. Fascicle 20. AFIP. Washington, 1997

14.

14. Buisine MP , Devisme L , Degand P , Dieu MC , Gosselin B , Copin MC , Aubert JP , Porchet N . Developmental mucin gene expression in the gastroduodenal tract and accesory digestive glands. II. Duodenum and liver, gallbladder, and pancreas. J Histochem Cytochem 48:1667-1676, 2000

15.

15. Drut R , Jones MC . Congenital pancreatoblastoma in Beckwith-Wiedemann syndrome: An emerging association. Pediatr Pathol 8:331-339, 1988

16.

16. Ear pits. OMIM entry 128700. OMIM on line: www.ncbi.nlm.nig.gov/OMIM

17.

17. Lowry-Maclean syndrome. OMIM entry 600252. OMIM on line: www.ncbi.nlm.nig.gov/OMIM

18.

18. Brachydactyly, Type B 1; BDB 1. OMIM entry 113000. OMIM on line: www.ncbi.nlm.nig.gov/OMIM