Solitary Intestinal Fibromatosis: A Rare Cause of Intestinal Obstruction in Neonate and Infant By William W.L. Chang and Kirk M. Griffith Morgantown, West Virginia @A 5-month-old white boy infant exhibited remarkable growth retardation and subsequently developed ileal obstruction, which was found to be due to solitary intestinal fibromatosis. This rare lesion has an excellent prognosis if it is completely excised. This is in contrast to cases of congenital fibromatosis with multiple lesions, which carries a poor prognosis. Copyright o 1991 by W.B. Saunders Company INDEX WORDS: Solitary intestinal neoplasm; intestinal obstruction
fibromatosis; spindle in neonate and infant.
cell
OLITARY fibromatosis of the small intestine was first described in two neonates by Kauffman and Stout’ in 1965. However, only in recent case reports by Waits et al,’ Srigley and Mancer,3 and GonzalezCrussi and Noronha4 has it been established as a rare cause of neonatal intestinal obstruction. Collectively, these investigators have documented seven cases of solitary fibromatosis in the jejunum, ileum, or transverse colon in newborns. We wish to add a new case to the literature and to comment on its prognosis and the difficulty in differentiating this condition from other spindle cell neoplasms.
S
CASE REPORT This 5-month-old white boy infant was referred to the West Virginia University Hospitals for workup of growth retardation and a 3-week history of vomiting. The patient was the product of a full-term pregnancy, ending in spontaneous delivery without complications. Initially fed with mother’s milk, he did well for 4 months. At that time he was started on formula and shortly thereafter nonprojectile vomiting with feeding was first noticed without diarrhea, and followed by dehydration. With time the vomiting worsened, the vomitus becoming bile stained. On admission, this 5-month-old boy infant was dehydrated, weighing below the 5th percentile. His abdomen was distended with decreased bowel sounds but no mass or organomegaly was noted. Abdominal radiograms exhibited massively dilated loops of small bowel with air-fluid levels. With the presumptive diagnosis of ileal intussusception, exploratory laparotomy was performed. It showed a stenotic lesion in the ileum, 7 cm from the ileocecal valve, secondary to a fibrousappearing mass. A segmental ileal resection with ileostomy was
From the Depatiment of Pathology West Virginia University School of Medicine and University Hospitals, Morgantown, WV. Address reprint requests to William W.L. Chang, MD, PhD, Department of Pathology, West Virginia University, Health Sciences Center, Morgantown, WV26506. Copyright o 1991 by W.B. Saunders Company 0022-3468/91/2612-0017$03.00/O
1406
performed. The postoperative course was uncomplicated and the patient was discharged on the 9th postoperative day. The ileostomy was closed during the 12th postoperative week. The patient is reportedly gaining weight with normal growth and development 5 years postoperatively. The resected ileal segment measured 7.0 cm in length and 2.0 cm in diameter. Midway along the length of the specimen, a circumferential white firm mass, 2 cm in longitudinal length, appeared to originate in the bowel wall, markedly narrowing the bowel lumen with small intraluminal protrusions and focal mucosal ulcerations. The tumor partially involved the mesentery. Microscopically, a poorly demarcated spindle cell neoplasm occupied the submucosa, infiltrating into the muscularis propria, serosa, and attached mesenteric tissue. The tumor also extended inward into the mucosa with associated loss of crypts and ulceration with acute and chronic inflammation. Otherwise, little or no inflammatory cell infiltrate accompanied the neoplastic proliferation. The tumor entrapped the blood vessels and nerves. In the mesentery the tumor surrounded several lymph nodes without nodal metastasis. Histologically, the tumor varied from region to region with cellular areas composed of interlacing spindle cells with little collagen (Fig 1) to hypocellular areas with relatively abundant collagen. The tumor cells were fairly uniform and rarely exhibited mitotic activity. Immunoperoxidase staining performed on formalin-tied tissue showed that the tumor cells were negative for desmin and S-100 antigens, although the muscle layers, nerve plexuses, and bundles of the bowel wall provided positive controls. Most neoplastic cells demonstrated strong positivity for vimentin (Fig 2). Electronmicroscopy of the tumor performed after melting the paraffin block followed by embedding in Epon was unsatisfactory, but the tumor cells appeared to manifest certain features of myofibroblasts. DISCUSSION
In the neonate or infant, intestinal obstruction due to neoplasm is rare but has been reported to be due to spindle cell neoplasms of either fibroblast and/or myofibroblasP or smooth muscle ce1P origin, under various names including fibromatosis,‘-4 fibrosarcoma,5 spindle cell neoplasm or sarcoma>” mesenchymoma,‘2”3 and leiomyosarcoma.7-10 None of these cases has been diagnosed preoperatively. These spindle cell neoplasms appear to be poorly differentiated and, thus, they pose a dilemma in pathological diagnosis, particularly when electronmicroscopy and immunohistochemistry are not performed as in many of the previously reported cases. Neoplasms composed of vimentin-positive and desmin-negative spindle cells are generally of mesenchymal origin. However, in adults a considerable number of gastrointestinal spindle cell neoplasms
JournalofPedietricSurgery,
Vol26.No12
(Decemberj.1991:
~~1406~1408
SOLITARY
INTESTINAL
FIBROMATOSIS
1407
coma were due to a neoplastic proliferation of mesenchyrnal cells, fibroblasts, or myofibroblasts, and some of these cases may also represent solitary fibromatosis3 Solitary intestinal fibromatosis in neonates appears to be congenital, because six of the seven cases mentioned previously’-3 were recorded in neonates and the patients underwent surgery at less than 5 days of age. It also occurs in older infants (4 and 5 months of age, respectively, in the case reported by GonzalezCrussi and Noronha4 and in the present case>. In these two cases, the neoplastic proliferation of fibroblasts and/or myofibroblasts might have initiated in the perinatal period, but symptomatic intestinal obstruction did not occur until shortly after the neonatal period. Although fibromatosis resembles fibrosarcoma in its infiltrative growth and tendency toward recurrence, it never metastasizes.‘.” When fibromatosis is localized in one place as in solitary intestinal fibromatosis, the prognosis is excellent. In all the documented cases of this disease entity, none of the patients
Fig 1. Portion of heal tumor composed spindle shaped cells. Scattered lymphocytes paraffin; original magnification x196).
of interlacing bundles of are also present (H&E,
classified as leiomyosarcoma have been reported to exhibit vimentin positivity and desmin negativity.14-16 Also early in myogenesis vimentin is the only intermediate filament, and desmin appears as maturation proceeds. “A* Hence, the distinction between a fibrous or muscular nature of the spindle cell neoplasms in neonates and infants may not be achieved in the poorly differentiated state of the neoplastic cells. In the literature, many spindle cell neoplasms in the neonates and infants have been reported as leiomyosarcoma,7~1” and there are more than 20 reported cases of intestinal leiomyosarcoma.x However, certain features of smooth muscle differentiation, such as actin filaments, focal electron densities, and incomplete basal lamina, may also be observed in myofibroblasts.‘y.‘” Because fibromatosis is a neoplastic proliferation of myofibroblasts and/or fibroblasts,“.2’ some of the reported cases of intestinal leiomyosarcoma in neonates and infants may represent fibromatosis, as pointed out by some investigators.3.4 Other rare cases of spindle cell neoplasms of the intestine in neonates and infants reported as fibrosarcoma, mesenchymoma, or spindle cell sar-
Fig 2. Most of the interlacing spindle-shaped neoplastic cells are positively stained with vimentin. Vimentin-negative smooth muscle cells in the remaining muscularis propria are present in the right lower corner (Immunoperoxidase, paraffin; original magnification x78).
CHANG
1408
showed recurrence or died of the disease after local excision, although the follow-up period varied from 9 months to 10 years. The same statement seems to be applicable to the reported cases of intestinal leiomyosarcoma7’8 and other rare spindle cell neoplasms. This
AND
GRIFFITH
again raises the possibility of fibromatosis as the actual diagnosis in those cases. In contrast, the generalized or multiple form of fibromatosis has shown a high rate of local recurrence and had a worse overall prognosis.1~2~2’~u
REFERENCES 1. Kaufman SL, Stout AP: Congenital mesenchymal tumors. Cancer l&460-476,1965 2. Walts AE, Asch M, Raj C: Solitary lesion of congenital fibromatosis: A rare cause of neonatal intestinal obstruction. Am J Surg Path01 6:255-260,1982 3. Srigley JR, Mancer K: Solitary intestinal fibromatosis with perinatal bowel obstruction. Pediatr Pathol2:249-258,1984 4. Gonzalez-Crussi F, Noronha R: Solitary intestinal fibromatosis in the newborn. Rare cause of neonatal intestinal obstruction. Arch Pathol Lab Med 109:97-99,198s 5. Shearburn EW, Teja K, Botero LM, et al: Pancreaticoduodenectomy in the treatment of congenital fibrosarcoma of the duodenum. J Pediatr Surg 10:801-806,197s 6. Sherman MP, Neustein HB: Congenital spindle cell neoplasms of the intestine. Am J Pediatr Hematol Oncol 7:380-384, 1985 7. Angerpointer TA, Weitz H, Haas RJ, et al: Intestinal leiomyosarcoma in childhood-Case report and review of the literature. J Pediatr Surg 16:491-495, 1981 8. Delucchi MA, Latorre JJ, Guiraldes E, et al: Intestinal leiomyosarcoma in childhood: Report of two cases. J Pediatr Surg 23:377-379, 1988 9. Posen JA, Bar-Maor JA: Leiomyosarcoma of the colon in an infant: A case report and review of the literature. Cancer 52:14581461,1983 10. Roth D, Farinacci CJ: Jejunal leiomyosarcoma in a newborn. Cancer 3:1039-1043,195O 11. Ein SH, Beck AR, Allen JE: Colon sarcoma in the newborn, J Pediatr Surg 14:455-457,1979 12. El Shafie M, Spitz L, Ikeda S: Malignant tumors of the small
bowel in neonates presenting with perforation. J Pediatr Surg 6162-64, 1971 13. Nash A, Stout AP: Malignant mesenchymomas in children. Cancer 14:524-533,196l 14. Saul SH, Rast ML, Brooks JJ: The immunohistochemistry of gastrointestinal stromal tumors: Evidence supporting an origin from smooth muscle. Am J Surg Pathol11:464-473,1987 15. Evans DJ, Lampert IA, Jacobs M: Intermediate filaments in smooth muscle tumours. J Clin Path01 36:57-61,1983 16. Tsutsumi Y, Kubo H: Immunohistochemistry of desmin and vimentin in smooth muscle tumors of the digestive tract. Acta Pathol Jpn 38:455-469,1988 17. Denk H, Krepler R, Artlieb U, et al: Proteins of intermediate filaments: An immunohistochemical and biochemical approach to the classification of soft tissue tumors. Am J Pathol 110:193-208, 1983 18. Gard DL, Lazarides E: The synthesis and distribution of desmin and vimentin during myogenesis in vitro. Cell 19:263-275, 1980 19. Gabbiani G, Ryan GB, Majno G: Presence of modified fibroblasts in granulation tissue and their possible role in wound contraction. Experientia 27:549-550,197l 20. Ryan GB, Cliff WJ, Gabbiani G, et al: Myofibroblasts in human granulation tissue. Hum Path01 5:55-67, 1974 21. Chung EB, Enzinger FM: Infantile myofibromatosis. Cancer 48:1807-1818,1981 22. Gabbiani G, Majno G: Dupuytren’s contracture-Fibroblast contraction? An ultrastructural study. Am J Pathol 66:131-138, 1972 23. Shnitka TK, Asp DM, Horner RH: Congenital generalized fibromatosis. Cancer 11:627-639, 1958
fibromatosis; spindle in neonate and infant.
cell
OLITARY fibromatosis of the small intestine was first described in two neonates by Kauffman and Stout’ in 1965. However, only in recent case reports by Waits et al,’ Srigley and Mancer,3 and GonzalezCrussi and Noronha4 has it been established as a rare cause of neonatal intestinal obstruction. Collectively, these investigators have documented seven cases of solitary fibromatosis in the jejunum, ileum, or transverse colon in newborns. We wish to add a new case to the literature and to comment on its prognosis and the difficulty in differentiating this condition from other spindle cell neoplasms.
S
CASE REPORT This 5-month-old white boy infant was referred to the West Virginia University Hospitals for workup of growth retardation and a 3-week history of vomiting. The patient was the product of a full-term pregnancy, ending in spontaneous delivery without complications. Initially fed with mother’s milk, he did well for 4 months. At that time he was started on formula and shortly thereafter nonprojectile vomiting with feeding was first noticed without diarrhea, and followed by dehydration. With time the vomiting worsened, the vomitus becoming bile stained. On admission, this 5-month-old boy infant was dehydrated, weighing below the 5th percentile. His abdomen was distended with decreased bowel sounds but no mass or organomegaly was noted. Abdominal radiograms exhibited massively dilated loops of small bowel with air-fluid levels. With the presumptive diagnosis of ileal intussusception, exploratory laparotomy was performed. It showed a stenotic lesion in the ileum, 7 cm from the ileocecal valve, secondary to a fibrousappearing mass. A segmental ileal resection with ileostomy was
From the Depatiment of Pathology West Virginia University School of Medicine and University Hospitals, Morgantown, WV. Address reprint requests to William W.L. Chang, MD, PhD, Department of Pathology, West Virginia University, Health Sciences Center, Morgantown, WV26506. Copyright o 1991 by W.B. Saunders Company 0022-3468/91/2612-0017$03.00/O
1406
performed. The postoperative course was uncomplicated and the patient was discharged on the 9th postoperative day. The ileostomy was closed during the 12th postoperative week. The patient is reportedly gaining weight with normal growth and development 5 years postoperatively. The resected ileal segment measured 7.0 cm in length and 2.0 cm in diameter. Midway along the length of the specimen, a circumferential white firm mass, 2 cm in longitudinal length, appeared to originate in the bowel wall, markedly narrowing the bowel lumen with small intraluminal protrusions and focal mucosal ulcerations. The tumor partially involved the mesentery. Microscopically, a poorly demarcated spindle cell neoplasm occupied the submucosa, infiltrating into the muscularis propria, serosa, and attached mesenteric tissue. The tumor also extended inward into the mucosa with associated loss of crypts and ulceration with acute and chronic inflammation. Otherwise, little or no inflammatory cell infiltrate accompanied the neoplastic proliferation. The tumor entrapped the blood vessels and nerves. In the mesentery the tumor surrounded several lymph nodes without nodal metastasis. Histologically, the tumor varied from region to region with cellular areas composed of interlacing spindle cells with little collagen (Fig 1) to hypocellular areas with relatively abundant collagen. The tumor cells were fairly uniform and rarely exhibited mitotic activity. Immunoperoxidase staining performed on formalin-tied tissue showed that the tumor cells were negative for desmin and S-100 antigens, although the muscle layers, nerve plexuses, and bundles of the bowel wall provided positive controls. Most neoplastic cells demonstrated strong positivity for vimentin (Fig 2). Electronmicroscopy of the tumor performed after melting the paraffin block followed by embedding in Epon was unsatisfactory, but the tumor cells appeared to manifest certain features of myofibroblasts. DISCUSSION
In the neonate or infant, intestinal obstruction due to neoplasm is rare but has been reported to be due to spindle cell neoplasms of either fibroblast and/or myofibroblasP or smooth muscle ce1P origin, under various names including fibromatosis,‘-4 fibrosarcoma,5 spindle cell neoplasm or sarcoma>” mesenchymoma,‘2”3 and leiomyosarcoma.7-10 None of these cases has been diagnosed preoperatively. These spindle cell neoplasms appear to be poorly differentiated and, thus, they pose a dilemma in pathological diagnosis, particularly when electronmicroscopy and immunohistochemistry are not performed as in many of the previously reported cases. Neoplasms composed of vimentin-positive and desmin-negative spindle cells are generally of mesenchymal origin. However, in adults a considerable number of gastrointestinal spindle cell neoplasms
JournalofPedietricSurgery,
Vol26.No12
(Decemberj.1991:
~~1406~1408
SOLITARY
INTESTINAL
FIBROMATOSIS
1407
coma were due to a neoplastic proliferation of mesenchyrnal cells, fibroblasts, or myofibroblasts, and some of these cases may also represent solitary fibromatosis3 Solitary intestinal fibromatosis in neonates appears to be congenital, because six of the seven cases mentioned previously’-3 were recorded in neonates and the patients underwent surgery at less than 5 days of age. It also occurs in older infants (4 and 5 months of age, respectively, in the case reported by GonzalezCrussi and Noronha4 and in the present case>. In these two cases, the neoplastic proliferation of fibroblasts and/or myofibroblasts might have initiated in the perinatal period, but symptomatic intestinal obstruction did not occur until shortly after the neonatal period. Although fibromatosis resembles fibrosarcoma in its infiltrative growth and tendency toward recurrence, it never metastasizes.‘.” When fibromatosis is localized in one place as in solitary intestinal fibromatosis, the prognosis is excellent. In all the documented cases of this disease entity, none of the patients
Fig 1. Portion of heal tumor composed spindle shaped cells. Scattered lymphocytes paraffin; original magnification x196).
of interlacing bundles of are also present (H&E,
classified as leiomyosarcoma have been reported to exhibit vimentin positivity and desmin negativity.14-16 Also early in myogenesis vimentin is the only intermediate filament, and desmin appears as maturation proceeds. “A* Hence, the distinction between a fibrous or muscular nature of the spindle cell neoplasms in neonates and infants may not be achieved in the poorly differentiated state of the neoplastic cells. In the literature, many spindle cell neoplasms in the neonates and infants have been reported as leiomyosarcoma,7~1” and there are more than 20 reported cases of intestinal leiomyosarcoma.x However, certain features of smooth muscle differentiation, such as actin filaments, focal electron densities, and incomplete basal lamina, may also be observed in myofibroblasts.‘y.‘” Because fibromatosis is a neoplastic proliferation of myofibroblasts and/or fibroblasts,“.2’ some of the reported cases of intestinal leiomyosarcoma in neonates and infants may represent fibromatosis, as pointed out by some investigators.3.4 Other rare cases of spindle cell neoplasms of the intestine in neonates and infants reported as fibrosarcoma, mesenchymoma, or spindle cell sar-
Fig 2. Most of the interlacing spindle-shaped neoplastic cells are positively stained with vimentin. Vimentin-negative smooth muscle cells in the remaining muscularis propria are present in the right lower corner (Immunoperoxidase, paraffin; original magnification x78).
CHANG
1408
showed recurrence or died of the disease after local excision, although the follow-up period varied from 9 months to 10 years. The same statement seems to be applicable to the reported cases of intestinal leiomyosarcoma7’8 and other rare spindle cell neoplasms. This
AND
GRIFFITH
again raises the possibility of fibromatosis as the actual diagnosis in those cases. In contrast, the generalized or multiple form of fibromatosis has shown a high rate of local recurrence and had a worse overall prognosis.1~2~2’~u
REFERENCES 1. Kaufman SL, Stout AP: Congenital mesenchymal tumors. Cancer l&460-476,1965 2. Walts AE, Asch M, Raj C: Solitary lesion of congenital fibromatosis: A rare cause of neonatal intestinal obstruction. Am J Surg Path01 6:255-260,1982 3. Srigley JR, Mancer K: Solitary intestinal fibromatosis with perinatal bowel obstruction. Pediatr Pathol2:249-258,1984 4. Gonzalez-Crussi F, Noronha R: Solitary intestinal fibromatosis in the newborn. Rare cause of neonatal intestinal obstruction. Arch Pathol Lab Med 109:97-99,198s 5. Shearburn EW, Teja K, Botero LM, et al: Pancreaticoduodenectomy in the treatment of congenital fibrosarcoma of the duodenum. J Pediatr Surg 10:801-806,197s 6. Sherman MP, Neustein HB: Congenital spindle cell neoplasms of the intestine. Am J Pediatr Hematol Oncol 7:380-384, 1985 7. Angerpointer TA, Weitz H, Haas RJ, et al: Intestinal leiomyosarcoma in childhood-Case report and review of the literature. J Pediatr Surg 16:491-495, 1981 8. Delucchi MA, Latorre JJ, Guiraldes E, et al: Intestinal leiomyosarcoma in childhood: Report of two cases. J Pediatr Surg 23:377-379, 1988 9. Posen JA, Bar-Maor JA: Leiomyosarcoma of the colon in an infant: A case report and review of the literature. Cancer 52:14581461,1983 10. Roth D, Farinacci CJ: Jejunal leiomyosarcoma in a newborn. Cancer 3:1039-1043,195O 11. Ein SH, Beck AR, Allen JE: Colon sarcoma in the newborn, J Pediatr Surg 14:455-457,1979 12. El Shafie M, Spitz L, Ikeda S: Malignant tumors of the small
bowel in neonates presenting with perforation. J Pediatr Surg 6162-64, 1971 13. Nash A, Stout AP: Malignant mesenchymomas in children. Cancer 14:524-533,196l 14. Saul SH, Rast ML, Brooks JJ: The immunohistochemistry of gastrointestinal stromal tumors: Evidence supporting an origin from smooth muscle. Am J Surg Pathol11:464-473,1987 15. Evans DJ, Lampert IA, Jacobs M: Intermediate filaments in smooth muscle tumours. J Clin Path01 36:57-61,1983 16. Tsutsumi Y, Kubo H: Immunohistochemistry of desmin and vimentin in smooth muscle tumors of the digestive tract. Acta Pathol Jpn 38:455-469,1988 17. Denk H, Krepler R, Artlieb U, et al: Proteins of intermediate filaments: An immunohistochemical and biochemical approach to the classification of soft tissue tumors. Am J Pathol 110:193-208, 1983 18. Gard DL, Lazarides E: The synthesis and distribution of desmin and vimentin during myogenesis in vitro. Cell 19:263-275, 1980 19. Gabbiani G, Ryan GB, Majno G: Presence of modified fibroblasts in granulation tissue and their possible role in wound contraction. Experientia 27:549-550,197l 20. Ryan GB, Cliff WJ, Gabbiani G, et al: Myofibroblasts in human granulation tissue. Hum Path01 5:55-67, 1974 21. Chung EB, Enzinger FM: Infantile myofibromatosis. Cancer 48:1807-1818,1981 22. Gabbiani G, Majno G: Dupuytren’s contracture-Fibroblast contraction? An ultrastructural study. Am J Pathol 66:131-138, 1972 23. Shnitka TK, Asp DM, Horner RH: Congenital generalized fibromatosis. Cancer 11:627-639, 1958
