M. Maier1 A. Schütz3 W. Pernice4 D. Körholz1
Infantile Malignant Peripheral Nerve Sheath Tumour of the Ileum Causing Ileo-Ileal Intussusception in an Infant
Resumen
Nerve sheath tumours are rare tumours. We report here for the first time a malignant peripheral nerve sheath tumour of the ileum in a child who presented with recurrent intussusceptions. The tumour was excised with wide margins and staging procedures did not show any metastatically suspicious lesions. Complete resection in non-metastatic tumours seems to be the therapy of choice.
Los tumores de las vainas nerviosas son poco comunes. Presentamos un tumor maligno perifØrico de la vainas nerviosas del ileon en un niæo que presentaba invaginación recidivante. Se extirpó el tumor con amplios mµrgenes y no se encontró ninguna seæal de metµstasis. El mejor tratamiento parece ser la extirpación total en los tumores sin metµstasis.
Key words Infantile malignant peripheral nerve sheath tumour ´ intussusception ´ ileum ´ infancy
Case Report
Abstract
Palabras clave Tumor infantil maligno de las vainas nerviosas ´ invaginación ´ ileon ´ infancia
Zusammenfassung RØsumØ Les tumeurs des gaines nerveuses sont exceptionnelles. Nous prØsentons le cas d un enfant ayant une tumeur maligne des gaines nerveuses pØriphØriques au niveau de l ilØon, le premier cas de la littØrature. Une excision large avec marges saines Øtait rØalisØe. Aucun foyer mØtastatique n a ØtØ mis en Øvidence. La rØsection totale de tumeurs sans mØtastase semble tre le traitement de choix. Mots-clØs Tumeur maligne des gaines nerveuses pØriphØriques ´ enfant ´ invagination ´ ilØon
1
Nervenscheidentumoren sind seltene Tumoren. Wir berichten erstmals über ein Kind mit einem malignen peripheren Nervenscheidentumor des Ileums, bei dem wiederholte Invaginationen zur Diagnose führten. Der Tumor wurde im Gesunden exzidiert, und es zeigten sich keine weiteren metastasenverdächtigen Herde. Die komplette Resektion nicht metastasierter Tumoren scheint die Therapie der Wahl zu sein. Schlüsselwörter Tumor der Schwannschen Scheide ´ peripherer Nerventumor
Affiliation Division of Paediatric Haematology and Oncology, Department of Paediatrics, University of Leipzig Medical Centre, Leipzig, Germany 2 Department of Paediatric Surgery, University of Leipzig Medical Centre, Leipzig, Germany 3 Institute of Pathology, University of Leipzig Medical Centre, Leipzig, Germany 4 Department of Paediatrics, Torgau Medical Centre, Torgau, Germany Correspondence Dieter Körholz, M.D. ´ Professor of Paediatrics ´ Department of Paediatrics ´ Division of Paediatric Haematology and Oncology ´ University of Leipzig ´ Oststraûe 21 ± 25 ´ 04317 Leipzig ´ Germany ´ E-mail:
[email protected] Received: March 3, 2003 ´ Accepted after Revision: May 12, 2003
Bibliography Eur J Pediatr Surg 2003; 13: 347 ± 349 Georg Thieme Verlag Stuttgart ´ New York ´ ISSN 0939-7248
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R. Tröbs2
Introduction Nerve sheath tumours (formerly called schwannomas or neurilemmoma) are rare tumours originating from nerve sheathforming Schwann cells. Usually they are benign, but a small, mainly peripheral subgroup, called malignant peripheral nerve sheath tumours (MPNST), shows a malignant phenotype (6). The diagnosis is based on histology and, in particular, on focal immunohistochemical detection of S-100 protein in the absence of CD34, actin and C-KIT positivity (8), allowing differentiation from gastrointestinal stroma tumours (GISTS), fibrosarcomas and synovial sarcomas, as the main differential diagnoses. MPNST of the ileum is a rare disease entity (9,11) with only about 50 reports in the literature and previously not reported in infancy.
Fig. 2 High proliferation index (MIB-1) up to 60% (original magnification 20fold).
Case Report A seven-month-old Caucasian girl presented with recurrent vomiting, episodes of spasmodic abdominal pain, and passing of currant jelly stool. Low haemoglobin of 5.4 mmol/l (7.5 ± 10.0) and haematocrit of 0.25 (0.30 ± 0.40) were consistent with chronic blood loss. Coil-spring ultrasound images of the ileo-ileal region led to the suspicion of invagination. Pneumatic reduction failed. A laparotomy was performed, confirming the presence of an ileo-ileal intussusception 80 cm orally of the Bauhin s valve and a manual intraoperative Hutchinson s de-invagination was successfully performed. Two days later the child presented again with bloody stools and haematemesis. Ultrasound findings pointed to a recurrence of the ileo-ileal intussusception and an additional ileo-caecal intussusception. After repositioning of the telescoped section, an obstructing mass was found. The involved segment of the ileum was resected, including the tumour of 3.1 1.5 1.6 cm. End-to-end anastomosis was performed. The tumour, extending into the mesentery, was excised with wide margins (R0). The cut surface of the tumour was homogenous and firm with a greyish-white appearance. The solid tumour showed a polypoid growth pattern, ulcerating the overlaying mucosa and extending through the muscularis. Histologically, the tumour was composed of spindle-shaped cells exhibiting a nuclear palisading formation and proliferating in an interlaced fashion (Fig. 1). The cytoplasm was eosinophilic and PASnegative. In the silver-stained tissue, groups of tumour cells and single tumour cells were enclosed by reticular fibres. Alternating Antoni A and B areas with more prominent cellular components compared to the myxoid changes were apparent. Abnormal mitotic figures and mitotic counts, averaging from 5 to 15 per high power microscopic fields (HPF), were observed. The proliferation activity, as determined by MIB-1 as proliferation marker, ranged from 30 % in some areas to 60 % in others (Fig. 2). Immunohistochemically the tumour was focally positive for S-100 protein, and focally positive in scattered areas for CD34, but negative for smooth muscle actin (SMA), C-KIT and cytokeratin (Fig. 3). Dissected mesenterial, ileo-caecal, para-iliac and caval lymph nodes as well as abdominal fluid and biopsy from the greater omentum did not show any metastatic spreading. Abdominal MR scan, X-ray of the thorax, spiral computed tomography of
Fig. 3 Focal expression of S-100 (brown staining) in a small number of tumor cells (original magnification: 40-fold).
the skull, and thorax as well as bone scintigraphy also showed no hint of metastases. On the basis of these findings, the tumour was classified as a well-differentiated infantile malignant peripheral nerve sheath tumour (MPNST, ICD-0-M-9540/3, G1). Staging was pT1 b, pN0 (0/7), MX, stage I A. The infant remains in follow-up with ultrasound imaging every month and three MRT controls to date and has been free of recurrence and symptoms for 1 year after diagnosis.
Discussion To our knowledge, this is the first report of a solitary infantile malignant schwannoma of the ileum. Schwannomas can present as solitary masses at any location in the absence of neurofibromatosis, although there is a reported association between MPNST and NF2 in particular (1). Meis et al reviewed 78 MPNST children and only found 21% with history of neurofibromatosis, with neurofibromatosis as a significant adverse prognostic indicator (7). Neither the infant we report on nor her family showed
Maier M et al. Infantile Malignant Peripheral ¼ Eur J Pediatr Surg 2003; 13: 347 ± 349
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Fig. 1 Fascicular pattern with focal nuclear palisading as typical for neurotodermal tumors (HEstain, original magnification: 20-fold).
PNSTs are mainly found in the limbs (50%), trunk (40 %), or neck and shoulder (10 %), and only rarely involve the intra-abdominal organs (12). In the gastrointestinal tract they can arise from cells of the submucous or myenteric plexus or directly from the intestinal wall (2).
Only limited data concerning the therapy and survival of the diverse and rare subgroup of malignant schwannomas is available. The data pionts to infantile MPNST having a much better outcome than adult forms. This is mainly because infantile forms are often of lower grades, less invasive and at a lower stage at the time of detection. Hayes-Jorden et al reported a 5-year survival rate of 92% 9% in patients less than 1 year of age (3). In advanced stages, neo-adjuvant radiation or chemotherapy (VACA; vincristine, dactinomycin, cyclophosphamide, and doxorubicin; or ifosfamide replacing cyclophosphamide) might be beneficial (4). Thus, it is important to detect and treat these tumours at an early stage as low grade non-metastatic MPNST.
References 1 2 3
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9 10
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Conclusion
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We report for the first time on a child with an infantile malignant peripheral nerve sheath tumour located in the ileum. Thus, although infant MPNST is rare, this diagnosis can be considered
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Maier M et al. Infantile Malignant Peripheral ¼ Eur J Pediatr Surg 2003; 13: 347 ± 349
Case Report
In cases of intussusception, a tumour should be considered as a possible diagnosis when recurrent invaginations occur as was the case in our child. According to the literature, most cases of ileo-ileal intussusceptions in adults, unlike those in children, are tumour-related with benign tumours such as lipomas as the most common cause (10). Only two cases of schwannomas have been reported in adults (5) and none in children, so far.
when a tumour leads to intussusception. Since the prognosis of non-metastatic infantile MPNST seems to be good after complete resection with histologically negative tissue margins (9), radical resection of these tumours is the therapy of choice.
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any indication of neurofibromatosis, indicating a favourable prognosis.
