Research Letters

Familial adenomatous polyposis presentig with childhood desmoids

Les proliférations fibroblastiques et myofibroblastiques de l’enfance et de l’adolescence couvrent un spectre clinique et morphologique allant des processus réactifs bénins et des pseudo-sarcomes à différente types de sarcomes, en passant par les fibromatoses. Le diagnostic est difficile en raison de similarité clinique et morphologique, de l’absence de marqueurs immunohistochimiques spécifiques pour les différentes tumeurs fibroblastiques myofibroblastiques et d’une information génétique moléculaire limitée. Toutefois une attention particulière portée aux aspects cliniques, macroscopiques et histologiques permet la plupart du temps une classification. Cette mise au point est centrée sur les caractéristiques anatomopathologiques des tumeurs fibroblastiques et myofibroblastiques de l’enfant et de l’adolescent.

Fibroblastic-myofibroblastic proliferations of childhood and adolescents form a clinical and morphologic spectrum from benign reactive processes and pseudosarcomas, to fibromatoses, to various types of sarcoma. The diagnosis is challenging because of clinical and morphologic similarities, lack of specific immunohistochemical markers for different types of fibroblastic-myofibroblastic tumors, and limited molecular genetic information. Careful attention to clinical, macroscopic, and histopathologic features permits classification in most cases. This review focuses on the pathologic features of fibroblastic-myofibroblastic tumors with a predilection for children and adolescents.

The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.

Background: Desmoid tumour (DT) is an uncommon locally invasive non-metastasizing neoplastic lesion. The aetiology of this tumour is unknown and its treatment is controversial. Twelve cases of DT are presented and the literature is reviewed. Methods: Twelve cases of DT treated at our institution during a 3.5-year period are analysed and the literature reviewed. Ten patients were referred with a primary tumour, one with local recurrence and one patient with a second primary desmoid tumour. One patient had multiple mesenteric DT (familial adenomatous polyposis coli—FAP), and in the remaining 11 patients the tumour was located in the abdominal wall in four, at an extremity in three, in the upper back in two patients, in the pelvis in one and retroperitoneally in one. Results: The largest mesenteric DT was marginally exciseden bloc with total jejunectomy. In the remaining 11 DT, complete excision to microscopically tumour-free margins was possible in nine cases and to microscopically involved margins in two cases. At a mean follow-up of 22 months (range 7–38 months), one patient was alive with stable disease (Gardner's syndrome), 10 patients were alive and free of recurrence and one patient (9%) developed local recurrence which was re-excised—she is disease-free 10 months later.Conclusions: Complete excision is the main modality of treatment for primary and recurrent DT. This is feasible in most cases except for tumours involving the base of the bowel mesentery. Surgical resection alone achieved local control of the tumour in most of the patients in this series (92%).