The Voluminous Mass was a Desmoid Tumour

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Desmoid (from the Greek desmos, which means tendon like) tumours are begnin tumours arising from the muscle-aponeurotic structures [25]. They are usually well differentiated but with an aggressive behaviour. Even if they have no metastatic potential, they can locally infiltrate the adjacent structures, leading to morbility/mortality because of the deformity resulting from the pressure or obstruction of vital structures/organs [26-28]. They represent 0.03% of all neoplasies [29] but this incidence increases up to 13% in patients with FAP [30], affecting mostly women (female:male ratio 2:1). Generally, desmoid tumours are localised in the abdominal wall or in the shoulder girdle, but in Gardner's syndrome, they mostly develop in the retroperitoneal space [31]. Many of these tumours are revealed after RP-IPAA [32, 33] or may be revealed, despite the preoperative staging, only during laparotomy and presenting small-sized masses, making deciding upon the kind of treatment difficult and controversial [34]. In order to determine approach to these tumours and assess their response to therapy, a method of staging intraabdominal desmoid tumours was recently formulated [35].

In the effort to reduce the abdominal mass, before performing surgical resection, Rosa was treated with tamoxifen and sulindac, which she had to stop after 3 months due to the appearance of side effects (abdominal and limb cramps).

Despite anecdotes about the spontaneous reduction of the mass of desmoid tumours, the latter, as already stated above, tend to grow, sometimes fast, showing signs connected with infiltration of the surrounding structures or of space filling. As we will later see, the surgical approach proved to be at once subject to a high rate of relapses and to a high rate of complications [36], leading us to explore the possibility of using pharmacologic therapy as a primary choice.

Schematically, we can say that the drugs used may be divided into 5 groups: hormonal modulators, that is non-steroidal anti-inflammatory agents (NSAIDs); cAMP modulators, that is, cytotoxic

Table 1. Physical characteristics associated with Gardner's and Turcot's syndromes

Gardner syndrome Skin

Craniofacial Gastrointestinal

Endocrine

Turcot syndrome Skin

Gastrointestinal Central nervous system

Epidermal cyst Sebaceous cyst

Osteomas

Dental abnormalities

Multiple gastric polyps

Multiple duodenal polyps

Multiple colonic polyps (FAP)

Desmoid tumours (abdominal or/and thoracic wall; mesenteric)

Cushing syndrome Multiple endocrine neoplasia

Café au lait spots Multiple lipomas

Basal cell carcinoma of scalp Multiple colonic polyps (FAP) Hepatic nodular hyperplasia Gastric carcinoma

Glioma

Glioblastoma multiforme Astrocytoma

Supernumerary teeth Missing teeth Root abnormalities

FAP, familial adenomatous polyposis coli chemotherapeutic agents and other various agents (interferon gamma and, recently, imatinib mesylate). Cytotoxic drugs did not prove to be particularly effective in treating desmoid tumours, and their use was reserved to a few patients who did not respond to the other agents. Various therapeutic patterns were used, all including doxorubicin in association with other agents, also associated in some cases with radiotherapy [37-40] The action pattern of the NSAIDs is not yet clear, but it seems to be connected with a decreased prostaglandin synthesis due to cyclooxygenase reduction. The results obtained show a regression (either partial or complete) of the mass ranging from 0% [36] to 45% [41]. The side effects, though, are high, with a GI bleeding (in 29% of cases), gastric ulcer, nausea or vomiting [41].

The use of antiestrogens has its rationale in the proof, in many cases, of the presence of receptors for progesterone on desmoid tumour cells. By blocking these receptors, as in other neoplasties, activation of some genes is negatively inhibited (such as ornithine decarboxylase), influencing cell growth [42]. More over, there is an action pattern that is independent from the presence of receptors and is connected with stimulation of the secretion of the growth factor-b, which in turn inhibits the growth of abnormal fibroblast present in the desmoid tumour. Results in the literature are extremely various, with a success rate (either complete or partial response) ranging from 25% to 100% [41,43,44]. This treatment, though, due to the lower side effects, may be considered a firstline therapy and tried in most patients, even if it seems (the studies include a decreasing number of patients) to have better results if progesterone is expressed [43].

The introduction of imatinib mesylate (which proved extremely effective to treat another class of solid tumours, that is, GI stromal tumour), seems to offer some hope, considering the remarkable results described in a report [45], even if its usage seems to be limited to cases expressing the CD117 surface receptor.

A new abdomen CT showed growth of the abdominal mass, compelling us to choose surgery as an option.

What Considered Large Spleen
Fig. 5. Operative specimen: histologic involvement of colon (a); spleen (b); pancreas (c); kidney (d); surrenalic gland (e); ureter (f)

Resective therapy is considered the only alternative to pharmacological therapy if the latter fails, but it must be carefully considered due to the high rate of recurrence and the need to perform extended incisions to resect the tumours [46-48].

On 8 October 1998, Rosa underwent an en bloc resection of a large desmoid tumour (including pancreatic tail, spleen, left kidney, ureter and surrenal gland) (Figs. 4a-c and 5a-f), total colectomy with terminal ileostomy and closure of the rectal stump. The postoperative course was very good, and the MRI revealed complete resection of the tumorous mass (Fig. 6). Rosa was then dismissed. Rosa's recovery was unbelievable. She resumed school after a short while and managed to lead an ordinary life despite the stoma, which she managed autonomously without any limitation to her daily living.

In June 1999, at the end of school year, Rosa was hospitalised again to close the ileostomy. Preopera-tive exams, particularly the MRI did not reveal the presence of a desmoid tumour. On 25 June, Rosa was then subjected to surgery. At laparotomy, many nodules were revealed (likely recurrence of desmoid tumour) in the mesentery. Some nodules were resected, but it was not possible to remove them all without performing too wide a resection on the small bowel. The ileostomy was resected and, after mobilisation of the ileum, a side-to-end ileorectal anastomosis was made. Also in this case, there were no important complications during the postoperative course, and Rosa was dismissed after 2 weeks.

After just 8 months, during follow-up, an MRI revealed a new abdominal mass of about 10 cm in diameter. Moreover, a fast-growing mass in the abdominal-thoracic area was found. Rosa again underwent surgery. At laparotomy, a voluminous desmoid tumour was found (12-14 cm) growing from the mesentery and involving the origin of the mesenteric artery. Resection of such a mass was impossible without resecting over 80% of the small intestine. Some small desmoid tumours were then removed along the abdominal incision, and the abdominal-thoracic mass (a new desmoid tumour). Postoperative hospitalisation lasted 10 days only, and Rosa was dismissed. In the meantime, proving to be very brave, Rosa moved to Verona by herself and to attend the faculty of medicine at the university. The next 2 years went by rather peacefully. Rosa, always smiling and in a good mood, often walked down the hospital aisles, alternating her role of a bright student of medicine with the role of the patient undergoing periodical follow-ups. The big abdominal desmoid tumour seemed to have stopped growing, apparently responding well to the new therapy with raloxifene.

At the beginning of January 2003, Rosa began to report recurring abdominal pains, nausea and intestinal subocclusion. The situation slowly progressed; her appetite diminished and she consequently lost weight [actual body mass index (BMI): 17.5]. Considering the symptomatology, oral intake was stopped and was positioned at the central line. The abdominal radiograph showed a pattern of intestinal subocclusion. The MRI revealed persistence of the previously described mass and the appearance of new nodules in the abdomen and abdominal wall. After 2 days, the physicians decided, considering the persistence of the symptoms, to perform surgery again. Laparoto-my revealed a situation of diffused adherences and two new desmoid masses. Some jejunal loops were dilated and strictly connected to the bigger desmoid tumour. A jejunal-ileal bypass was created. The postoperative course was difficult, with slow reactivation of intestinal movements.

Rosa, at this point, seeing there were no further alternatives, was sent to the surgical clinic in Innsbruck managed by Prof. Margreiter to be evaluated for an intestinal transplant. After careful clinical

Fig. 6. Postoperative magnetic resonance imaging (MRI) scan

evaluation and a thorough explanation of the surgery to be performed (Fig. 7) and short- and long-term risks, Prof. Margreiter proposed that Rosa undergo intestinal or multiorgan transplant. With her usual bravery, Rosa accepted and was placed on the waiting list.

The multiorgan transplant is a very complicated procedure, especially due to postoperative management of rejection. Even if the experiences in major centres are limited, the multiorgan transplant, in the case of large desmoid tumours, is becoming a reality [49-53]. However, besides the risks connected with the procedure, there is the possibility of recurrence of the desmoid tumour, with the risk of having to perform new resective operations [54].

During the following months, Rosa resumed an ordinary life. Despite the fact that her parents wanted and encouraged her to go home, she returned to live in Verona with her mates and resumed studying,

Fig. 7. Picture drawn by Prof. Margreiter during the informed consent process

taking exams and getting the best grades. Follow-ups revealed a stationary situation, with a discreet nutritional status. In November 2003, things began to get worse. Rosa began to report the return of abdominal pains and fever. She was then treated at the outpatient clinic but on 25 November 25 2003 had to be hospitalised due to the reappearance of sepsis white blood cell count (WBC): 20,000, fever 40.5°C). A broad-spectrum antibiotic therapy was then started and a abdomen CT was performed. The latter revealed the presence of an abdominal purulent concentration. Rosa was then subjected to a new laparo-tomy and drainage of the purulent concentration, which was probably due to a fistula between a jejunal loop and the bigger desmoid tumour. Because of the abdominal situation, only drainage of this abdominal abscess was done. Her case was then declared urgent, and she was placed on the top of the transplant list.

The postoperative course was extremely difficult. After an initial period of relative well-being, bacterial and fungal infections occurred, becoming increasingly difficult to control with therapy. A new abdominal abscess close to the abdominal wall was drained percutaneously. After more than 2 months of hospitalisation, on 15 February 2004, Rosa received the long-awaited call: a donor was found. Rosa was moved to Innsbruck at once. While going into the operating theatre, she said goodbye to Prof. Delaini with a smile on her face; he had been following her since the beginning of the disease and saw her as far as Innsbruck: "Professor, these surgeons will try to kill me anyway. Please, oversee the operation", she said. Surgery was extremely complicated. In the demolitive stage, all desmoid abdominal tumours were abscessed, resecting the aorta vena cava. The desmoid tumours of the abdominal and thoracic wall were then abscessed, demolishing a large portion. Rosa was then subjected to a multivisceral transplant: liver, pancreas, stomach (with gastric anastomosis), duodenum, jejunum and ileum. A terminal ileostomy was made. The abdominal wall was reconstructed by a large abdominal Gore-Tex patch. The final stage of the operation was characterised by difficulty controlling bleeding and the need to perform an abdominal patching. After 4 days, the abdominal patches were removed. On 5 March, Rosa underwent a new surgery to drain an infected retrogastric haematoma [positive for methicillin-resistant Staphylococcus aureus (MRSA)]. The remaining operative course was without complications. Rosa began a by-mouth feeding even though prudentially a Port-a-Cath was inserted.

Antirejection therapy, after some initial adjustments and the need to undergo a unique dialysis session due to worsening of kidney function following a temporary high haematic concentration of FK-506, had a very good range and response. The duodenal biopsies through ileostomy did not reveal the appearance of any sign of acute or chronic rejection. Moreover, echo-colour Doppler revealed very good hepatic perfusion. On 13 May 2004, Rosa was dismissed, and follow-ups at the outpatient clinic were scheduled. The first 2 months went by satisfactorily despite the need to undergo 2 cycles of high-dosage corticosteroids to avoid rejection. During this period, Rosa could even leave her apartment near Innsbruck, where she lived with her parents, and travel to Altavilla Salentina.

On 11 July 2004, Rosa was hospitalised due to upper GI bleeding that, at gastroscopy, revealed two duodenal ulcers that only required the transfusion of 3 units of blood. This event, which apparently was not so serious, was the initial cause of a miserable course. Rosa began to have a series of bacterial infections, which required broad-spectrum antibiotic therapy and removal of the Port-a-Cath (16 July). Subsequently, a state of sepsis began to appear (on 27 July), with an increase of lactates and worsening of the cardiocirculatory condition. To support circulation, it was necessary to begin the administration of pressor amines. On 4 August a massive left pleuritic effusion was surgically drained, which on 6 August required a review due to bleeding with haematoma. Moreover, following the development of respiratory insufficiency, Rosa was intubated, and respiratory function was mechanically supported.

Following the bacterial infections came fungal infections and the development of coagulative deficiencies. On 20 August, a surgical tracheostomy was performed. After a few hours, Rosa's circulatory status worsened and despite all efforts, she died at 21.04 on 21 August 2004. The autopsy was performed 1 day later, but it only confirmed the damage caused by the septic shock.

Rosa Gallo was an extraordinary young woman who, despite her short life, deeply changed all who knew her. With her wonderful smile and her incredible stamina, she faced her disease and trouble serenely. This book is the first step towards the realisation of a dream that led her to attend the faculty of medicine: to help all people suffering with FAP. Thank you, Rosa.

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