[Familial adenomatous polyposis, desmoid tumors and Gardner syndrome] [Article in French]

About 15 % of patients with familial adenomatous polyposis “PAF” develop one or more desmoid tumors in their lifetime. These tumors raise a therapeutic problem because of their heterogeneity and the absence of predictive biomarkers along illness evolution. The identification of prognostic biological and clinical factors would make easier the selection of patients requiring first-line treatment, as spontaneous remissions have also been observed in patients with FAP whom which an active surveillance could also be a valid therapeutic option. The particularity of desmoid tumors associated to PAF lies in their predominantly intra-abdominal location and the risk of complication. In the last ten years, surgery has largely given way to conservative treatments such as chemotherapy and more recently to tyrosine kinase inhibitors that have shown their efficacy with a significant improvement in progression-free survival of patients.

Locoregional therapy for advanced or recurrent desmoid tumor is part of our therapeutic armamentarium. Radiation therapy at a dose of 56Gy is feasible and has led to favorable results despite limited prospective data available. Cryoablation is a novel, very promising technique that may be applied in the same clinical picture of advanced, progressing or recurrent disease, in the hands of trained teams. All these options have to be discussed in sarcoma tumor boards due to the rarity of the disease and the expertise needed.

In this study, we investigated the expression of estrogen receptors (ER) alpha (1) and beta (2), progesterone receptor (PR), androgen receptor (AR), as well as Poly Adenosine Diphosphate Ribose Polymerase-1 (PARP-1) via immunohistochemistry and quantitative RT-PCR in 69 tissue samples of desmoid tumors. Immunohistochemistry was quantified using the Immunoreactivity Score (IRS). Overall expression patterns were correlated with clinical-pathologic parameters to determine their value as a prognostic factor. Among the investigated hormone receptors only ER Beta showed partial cytoplasmic reactivity. PARP-1 revealed variable nuclear positivity with IRS ranging from 0 to 6. Univariate survival analysis showed that higher expression of estrogen receptor 1 was associated with shorter disease-free survival (p?=?0.005). Uni- (p?=?0.03) and multivariate (p?=?0.003) analyses of mRNA data revealed that higher PARP-1 expression correlated with earlier recurrence. According to this study PARP-1 expression is associated with poorer prognosis, that is faster recurrence, highlighting the possibility of PARP-1-targeting agents as a therapeutic option. Hormone receptors were of minor prognostic relevance in this study.

We report the case of a 27-year-old male patient presenting with the clinical picture of acute appendicitis. During the operation, we found a tumor in the jejunum with a necrotic zone and perforation on its surface, causing hemorrhagic effusion into the abdominal cavity and subsequent peritonitis. The tumor was removed with negative margins via resection of the small bowel. The final histological result showed aggressive fibromatosis. Aggressive fibromatosis remains a serious problem with the possibility of locally aggressive behavior with high rates of recurrence. Sometimes, its clinical and macroscopic recognition can be immensely tricky. As shown by our patient, on rare occasions, desmoid tumors can lead to acute surgical abdomen requiring an emergency operation.

We herein report a rare case of an intra-abdominal desmoid, consisting of solid and cystic components covered with epithelial linings, that emerged after distal gastrectomy. The preoperative diagnosis was inconclusive, so laparotomy was performed. Histopathology of the solid component showed proliferating spindle cells, which were positive for beta-catenin in their nuclei. Clinicians need to bear in mind that desmoids can appear in a solid-cystic form, and immunostaining of beta-catenin should be applied for tumors that emerge around postoperative wounds.

The role of patient groups has grown steadily stronger since the first General Meeting of cancer patients in 1999 and the emergence of the rare diseases issue in the mid-eighties. This article demonstrates the role of a patient group (SOS DESMOIDE) gathering people suffering from a rare disease (the desmoid tumor) in the stimulation of scientific and medical research as well as the improvement of patient care, information and support provided to patients. It substantiates these elements with numerous socio-medico-psychological surveys, scientific publications and medical research implemented by medical teams and supported, even sometimes initiated, by SOS DESMOIDE. This research effort illustrates the significant impact of a partnership between patients and physicians-researchers on medical and scientific breakthroughs in a specific pathological field.