Extra-abdominal desmoid tumors are circumscribed but non-capsulated neoplasms of differentiated fibrous tissue arising
from musculoaponeurotic tissues. They tend to be locally infiltrative, resulting in a high rate of local recurrence without
metastasis, following surgical resection. We report a 9-year-old boy who had a large desmoid tumor in his right buttock that
was successfully excised.
Desmoid Tumor; Aggressive fibromatosis; Musculoaponeurotic fibromatosis; Fibrosarcoma; Recurrence
This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease.
Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically benign, desmoids are locally invasive and associated with a high local recurrence rate, but lack metastatic potential. On the molecular level, desmoids are characterized by mutations in the β-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC. Proof of a CTNNB1 mutation may be useful when the pathological differential diagnosis is difficult and location might be predictive for disease recurrence.
Many issues regarding the optimal treatment of patients with desmoids remain controversial; however, surgery is the therapeutic mainstay, except if mutilating and associated with considerable function loss. Postoperative radiotherapy reduces the local recurrence rate, in cases of involved surgical margins. Because of the heterogeneity of the biological behavior of desmoids, including long periods of stable disease or even spontaneous regression, treatment needs to be individualized to optimize local tumor control and preserve patients' quality of life. Therefore, the application of a multidisciplinary assessment with multimodality treatment forms the basis of care for these patients. Watchful waiting may be the most appropriate management in selected asymptomatic patients. Patients with desmoids located at the mesentery or in the head and neck region could present with life-threatening complications and often need more aggressive treatment. This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease.
Aggressive fibromatosis; Desmoid tumor; Advanced disease; β-catenin; Individualized treatment
Mutations in the gene-encoding β-catenin, CTNNB1, are highly prevalent in sporadic desmoid tumors and may predict the risk for recurrence. We sought to determine the prevalence of CTNNB1 mutations and to determine whether the CTNNB1 mutation status correlates with disease outcome.
Describe the frequency of CTNNB1 mutations in sporadic desmoid tumors.Summarize findings regarding CTNNB1 mutation status and disease outcome.
Mutations in the gene-encoding β-catenin, CTNNB1, are highly prevalent in sporadic desmoid tumors and may predict the risk for recurrence. We sought to determine the prevalence of CTNNB1 mutations in a large cohort of sporadic desmoid tumors and to determine whether CTNNB1 mutation status correlates with disease outcome.
Single-base extension genotyping of the CTNNB1 gene was performed on 145 sporadic, paraffin-embedded desmoid tumor specimens. Correlation of mutation status with outcome was performed on a subset of 115 patients who underwent macroscopically complete surgical resection.
CTNNB1 mutations were detected in 106 of 145 (73%) tumor specimens and in 86 of 115 (75%) specimens from patients who underwent curative-intent surgical resection, including discrete mutations in the following codons of CTNNB1 exon 3: T41A (46%), S45F (25%), S45P (1.7%), and S45C (0.9%). Desmoid tumors of the superficial trunk were significantly less likely to harbor CTNNB1 mutations than tumors located elsewhere, but none of the other examined clinicopathologic factors were found to be associated with CTNNB1 mutation status. At a median follow-up of 31 months, 5-year recurrence-free survival was slightly, although not statistically significantly, worse for patients with β-catenin-mutated tumors than for those with wild-type tumors (58% vs. 74%, respectively). The specific CTNNB1 codon mutation did not correlate with the risk for recurrence.
CTNNB1 mutations are indeed common in sporadic desmoid tumors. However, our study did not detect a statistically significant difference in recurrence risk according to either the CTNNB1 mutation status or the specific CTNNB1 mutation.
Desmoid tumor; Beta-catenin; Mutation status; CTNNB1; Fibromatosis
Desmoid tumors are rare soft-tissue neoplasms with limited data on their management. We sought to determine the rates of recurrence following surgery for desmoid tumors and identify factors predictive of disease-free survival.
Between January 1983 and December 2011, 211 patients with desmoid tumors were identified from three major surgical centers. Clinicopathologic and treatment characteristics were analyzed to identify predictors of recurrence.
Median age was 36 years; patients were predominantly female (68 %). Desmoid tumors most commonly arose in extremities (32 %), abdominal cavity (23 %) or wall (21 %), and thorax (15 %); median size was 7.5 cm. Most patients had an R0 surgical margin (60 %). The 1- and 5-year recurrence-free survival was 81.3 and 52.8 %, respectively. Factors associated with worse recurrence-free survival were: younger age (for each 5-year increase in age, hazard ratio [HR] = 0.90, 95 % confidence interval [95 % CI] 0.82–0.98) and extra-abdominal tumor location (abdominal wall referent: extra-abdominal site, HR = 3.28, 95 % CI, 1.46–7.36) (both P <0.05).
Recurrence remains a problem following resection of desmoid tumors with as many as 50 % of patients experiencing a recurrence within 5 years. Factors associated with recurrence included age, tumor location, and margin status. While surgical resection remains central to the management of patients with desmoid tumors, the high rate of recurrence highlights the need for more effective adjuvant therapies.
Desmoid tumor is a rare entity, and most desmoid tumors are located in abdominal wall or extra-abdominal tissues. Occurrence of desmoid tumor in mesentry is extremely rare.
we report a mesenteric desmoid tumor in a 73-years-old woman who had undergone total gastrectomy reconstructed with jejunal pouch interposition for gastric carcinoma. After 1 year, a tumor was originating from mesentery of the interposed jejunal pouch was identified, and the patient underwent resection of the large mass which was found to invade pancreas. Histological examination revealed desmoid tumor.
Desmoid tumor is rare, and it was difficult for the differential diagnosis of desmoid tumor or recurrent tumor.
Intra-abdominal desmoid tumors are rare and most often occur in patients with a history of familial adenomatous polyposis, surgery, or pregnancy. We report a case of an intra-abdominal desmoid tumor mimicking the recurrence of gastric cancer. A 57-year-old male had undergone distal gastrectomy for advanced gastric cancer. Serum levels of carcinoembryonic antigen were found to be elevated 27 months after surgery. Computed tomography revealed a 15-mm mass in the mesentery of the transverse colon. In addition, radiotracer fluorodeoxyglucose uptake of the tumor was detected by positron emission tomography. The patient was diagnosed with gastric cancer recurrence, and chemotherapy consisting of cisplatin and S-1 was commenced. After five courses of chemotherapy, although no significant clinical response was seen, no new lesions were seen either. Thus, a curative resection of the recurrent tumor seemed possible, which was successfully performed. Histological examination of the resected specimen revealed spindle-shaped tumor cells with collagen fiber progression; no cancer cells were detected. The tumor was diagnosed as an intra-abdominal desmoid tumor. We report a rare case of an intra-abdominal desmoid tumor that mimicked a recurrent tumor arising from gastric cancer. In patients with history of surgery for intra-abdominal malignancies, it may be difficult to distinguish the recurrence of malignancy from desmoid tumors but the possibility of desmoid tumors must be considered in the differential diagnosis.
Desmoid tumor; Gastric cancer; Recurrence; Surgery
Desmoid tumours are rare mesenchymal tumours, often locally invasive and characteristically associated with a high local recurrence rate after resection. A potential aetiological role for female hormones is indicated. Pregnancy-associated desmoid tumours are almost exclusively located in the abdominal wall. An essential issue is how to counsel women who have had a pregnancy-associated desmoid tumour and subsequently wish to bear a child. A considerably rare case of a patient with a resection of a giant pregnancy-associated, 33 cm in diameter, intra-abdominal desmoid tumour is presented. After a subsequent pregnancy, the patient delivered healthy twins 26 months later. Fifty-four months after treatment, there are no signs of recurrent or second desmoid tumour. Although rarely located in the abdomen, pregnancy-associated desmoid tumours should be included in the differential diagnosis of intra-abdominal tumours detected during or shortly after pregnancy. Based on this case and a few others reported in the literature, subsequent pregnancy does not necessarily seem to be a risk factor for recurrent or new disease.
Aggressive fibromatosis; Desmoid tumour; Intra-abdominal tumour; Pregnancy
Desmoid tumor is a locally invasive, myofibroblastic, nonmetastatic tumor. Its pathogenesis remains unclear and it may involve genetic abnormalities, sex hormones and traumatic injury, including surgery. Postoperative intra-abdominal desmoid tumor is rare, especially in the retroperitoneum. We report a case of postoperative retroperitoneal desmoid tumor that developed 29 mo after the first excision of a gastrointestinal stromal tumor. Sporadic trauma-related intra-abdominal desmoid tumors reported in the English literature are also reviewed. Despite an extremely low incidence, postoperative desmoid tumor should be considered in the differential diagnosis when a recurrent neoplasm is found at least one year after operation. However, it is a clinical challenge to distinguish recurrent malignant neoplasms from desmoid tumors, and surgical resection is the treatment option depending on the anatomic location.
Desmoid tumor; Gastrointestinal stromal tumor; Recurrence; Retroperitoneum; Surgery
Desmoid tumors are rare benign tumors that originates in the fibrous sheath or musculo-aponeurotic structure. Histologically benign, they tends to invade locally and to be recurrent.
PRESENTATION OF CASE
We report a rare case of an intra-abdominal desmoid tumor in a patient affected by familial adenomatous polyposis, which degenerated into abscess. Male, 38 years, was hospitalized for abdominal pain, bowel obstruction and fever. The computed tomography showed a big dishomogeneous mass occupying the whole mesentery with internal massive liquefaction. The mass extended from the epigastrium for 13 cm up to L3. On the right mesogastric side a solid, thick mass of about 2 cm, with a length of 4.5 cm, was identified; it was not cleavable from the wall and from some of the loops. We decided to perform a computed tomography-guided percutaneous drainage. Two hundred ml of purulent necrotic material was aspirated, and washing with antibiotic solution was carried out. Cytological examination of fluid drainage showed histiocytes and neutrophils. At follow-up, the patient's clinical condition had improved. An abdominal ultrasound showed a substantial reduction in the diameter of the mass.
Diagnosis and treatment of desmoids tumor in patients with familial adenomatous polyposis may be difficult, especially when desmoids are located intra-abdominally and in the mesentery. Seldom will desmoid tumors be complicated by abscess formation.
The management of desmoids tumors is not easy and the choice of the best treatment may be difficult due to the different possible anatomical presentations.
DT, desmoid tumor; FAP, Familial Adenomatous Polyposis; APC, Adenomatous Polyposis Coli; CT, computed tomography; MRI, Magnetic resonance imaging; Desmoid tumor; familial adenomatous polyposis
To construct a postoperative nomogram to estimate the risk of local recurrence for patients with desmoid tumors.
The standard management of desmoid tumors is resection, but many recur locally. Other options include observation or novel chemotherapeutics, but little guidance exists on selecting treatment.
Patients undergoing resection during 1982-2011 for primary or locally recurrent desmoids were identified from a single-institution prospective database. Cox regression analysis was used to assess risk factors and to create a recurrence nomogram, which was validated using an international, multi-institutional dataset.
Desmoids were treated surgically in 495 patients (median follow-up 60 months). Of 439 patients undergoing complete gross resection, 100 (23%) had recurrence. Five-year local recurrence–free survival (LRFS) was 69%. Eight patients died of disease, all after R2 resection. Adjuvant radiation was not associated with improved LRFS. In multivariate analysis, factors associated with recurrence were extremity location, young age, and large tumor size, but not margin. Abdominal wall tumors had the best outcome (5-year LRFS 91%). Age, site, and size were used to construct a nomogram with concordance index 0.703 in internal validation and 0.659 in external validation. Integration of additional variables (R1 margin, gender, depth, and primary vs. recurrent presentation) did not importantly improve concordance (internal concordance index 0.707).
A postoperative nomogram including only size, site, and age predicts local recurrence and can aid in counseling patients. Systemic therapies may be appropriate for young patients with large, extremity desmoids, but surgery alone is curative for most abdominal wall lesions.
Extra-abdominal desmoid tumors preferentially affect the shoulders, arms, backs, buttocks, and thighs of young adults. Multicentric occurrence is rather rare but seems to be another distinctive feature of extra-abdominal desmoid tumors. In this article we report a rare case of multicentric extra-abdominal desmoid tumors arising in bilateral lower limbs.
desmoid; bilateral limbs; radiation
A desmoid tumor, also known as aggressive fibromatosis, is a rare benign neoplasm that arises from fascial or musculoaponeurotic tissues. It can occur in any anatomical location, most commonly the abdominal wall, shoulder girdle and retroperitoneum. The typical clinical presentation is a painless mass with a slow and progressive invasion of contiguous structures. It is associated with a high local recurrence rate after resection. Many issues regarding the optimal treatment of desmoid tumors remain controversial. Aggressive surgical resection with a wide margin (2-3 cm) remains the gold standard treatment with regard to preserving quality of life. Radiotherapy alone has been shown to be effective for the control of unresectable or recurrent lesions. Desmoid tumors tend to be locally infiltrative, therefore, the fields must be generous to prevent marginal recurrence. The radiation dose appropriate for treating desmoid tumors remains controversial. We present a 25-year-old Caucasian man with local recurrence of a desmoid tumor after repeated surgical resection, treated with radiotherapy. The patient achieved complete tumor regression at 4 mo after radiotherapy, and he is clinically free of disease at 12 mo after the end of treatment, with an acceptable quality of life. The patient developed short bowel syndrome as a complication of second surgical resection. Consequently, radiotherapy might have worsened an already present malabsorption and so led to steatohepatitis.
Desmoid tumor; Aggressive fibromatosis; Fatty liver
Desmoid tumor is characterized by infiltrative growth and local recurrence often occurs after surgery. To reduce the local recurrence rate, adjuvant therapy, such as radiotherapy and pharmacotherapy with cytotoxic agents, anti-estrogen agents and non-steroidal anti-inflammatory drugs, is often applied. In addition, these non-surgical treatments are also performed in patients with unresectable desmoid tumors. We successfully treated a patient with a desmoid tumor with tranilast; an anti-allergic agent.
A 48-year-old Japanese man with a slow-growing desmoid tumor on his chest wall was treated with an oral administration of tranilast (300 mg per day, three times a day). Two years and two months after the commencement of his therapy, the tumor became impalpable. At this time, the oral administration of tranilast was discontinued. Two years after discontinuation of the treatment, a physical examination showed no recurrence of the tumor and he continued in a state of remission. We were successfully able to reduce the size of the tumor and thereafter maintain the reduced size.
Tranilast was clinically effective in our case, and is probably comparable to cytotoxic agents or anti-estrogen agents. Because tranilast has substantially fewer adverse effects than cytotoxic agents, it could be a very useful therapeutic agent for desmoid tumor.
Objective: Desmoid tumors are rare benign neoplasms of fibroblastic origin, frequently presenting in the abdomen of adult patients. Little is reported about clinical features and outcome of desmoid tumors appearing in infants and children, especially when they are located in the face. Methods: We report a girl with a desmoid tumor of her cheek, which was present at birth. Results: The tumor was treated by surgical excision, with no additional treatment, other than follow-up. No recurrence of the tumor was witnessed 15 months following surgical excision. Summary: Radical surgical treatment with tumor excision, sometimes accompanied by radiotherapy, is the current standard therapy for infantile desmoid tumors. Pharmacological treatment may be added in selected cases. These modalities may be challenging when desmoid tumors appear in the face because of risks of facial distortion and associated growth problems.
Desmoid tumors (deep fibromatoses) are clonal connective tissue malignancies that do not metastasize, but have a significant risk of local recurrence, and are associated with morbidity and occasionally mortality. Responses of desmoid patients to sorafenib on an expanded access program led us to review our experience.
After IRB approval, we reviewed data for 26 patients with desmoid tumors treated with sorafenib. Sorafenib was administered at 400 mg oral daily and adjusted for toxicity.
Sorafenib was first line therapy in 11/26 patients and the remaining 15/26 had received a median of 2 prior lines of therapy. Twenty-three of 26 patients had demonstrated evidence of progressive disease by imaging, while 3 patients had achieved maximum benefit or toxicity with chemotherapy. Sixteen of 22 (~70%) patients reported significant improvement of symptoms. At a median of 6 months (2–29) of treatment, the best RECIST 1.1 response included 6/24 (25%) patients with partial response (PR), 17/24 (70%) with stable disease and 1 with progression and death. Twelve of 13 (92%) patients evaluated by MRI had >30% decrease in T2 signal intensity, an indirect metric for increased fibrosis and loss of cellularity. Eighty percent of patients with radiological benefit had extra-abdominal desmoids.
Sorafenib is active against desmoid tumors. A prospective, randomized clinical trial of sorafenib against other active agents is warranted. Loss of MRI T2 signal may be a useful surrogate for defining responses, but requires validation by examination of tumor pathology.
Desmoid tumours (also called deep or aggressive fibromatoses) are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in APC. Most sporadic desmoids carry somatic mutations in CTNNB1. Previous studies identified losses on 5q and 6q, and gains on 8q and 20q as recurrent genetic changes in desmoids. However, virtually all genetic changes were derived from sporadic tumours. To investigate the somatic alterations in FAP-associated desmoids and to compare them with changes occurring in sporadic tumours, we analysed 17 FAP-associated and 38 sporadic desmoids by array comparative genomic hybridisation and multiple ligation-dependent probe amplification. Overall, the desmoids displayed only a limited number of genetic changes, occurring in 44% of cases. Recurrent gains at 8q (7%) and 20q (5%) were almost exclusively found in sporadic tumours. Recurrent losses were observed for a 700 kb region at 5q22.2, comprising the APC gene (11%), a 2 Mb region at 6p21.2-p21.1 (15%), and a relatively large region at 6q15-q23.3 (20%). The FAP-associated desmoids displayed a significantly higher frequency of copy number abnormalities (59%) than the sporadic tumours (37%). As predicted by the APC germline mutations among these patients, a high percentage (29%) of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3%) seen among sporadic tumours. Our data suggest that loss of region 6q15-q16.2 is an important event in FAP-associated as well as sporadic desmoids, most likely of relevance for desmoid tumour progression.
The clinical features and the pathological changes of desmoid tumors were studied to point out the key factors affecting the recurrence.
The clinical data and specimens of 56 patients who underwent desmoid tumor resection from 2003 to 2008 were reviewed. Possible clinical factors related to the postoperative recurrence were analyzed statistically. The specimens round the lesions were studied histopathologically.
The overall recurrence rate was 39.3%. The postoperative recurrence rate of the patients with negative surgical margins and no tumor invasion of the major vessels and nerves was low (P < 0.05). However, the desmoid tumors could destroy the cortical bone and invade the medullary cavity.
Desmoid tumors were pathologically benign, which could extensively invade tissues around the lesions. The invasion of major vessels and nerves and quality of surgical margins are the key factors for the high postoperative recurrence rate.
Histopathology; Immunohistochemistry; Tumor resection
This case report describes the radical subtotal palliative resection of a massive recurrent desmoid tumor encompassing the abdomen, pelvis, and groin in a child who was 13 years old at the time of initial resection. Given the extensive distribution of the tumor en bloc resection, which is the standard treatment of desmoid tumors, would have meant performing a hemipelvectomy and repair of a large abdominal wall defect, likely with skin grafts and mesh. The patient’s personal goals however were to alleviate the pain and limited mobility that would allow her to re-attend high school and appear normal to her peers. Therefore, palliative surgery was pursued and currently the patient is 5 years out from her last surgery doing well. We believe that the option of surgical palliation in this case was warranted and should be an option for similar cases in the future.
Desmoid tumor; Palliative surgery; Pediatric; Palliation; Radical surgery
Background: To define the efficacy of postoperative irradiation in patients with recurrent extra-abdominal desmoid tumors in
whom surgical intervention has resulted in microscopically or grossly positive surgical margins.
Methods: A retrospective analysis was performed on all patients referred to the department of radiation oncology at the
Detroit Medical Center with a diagnosis of recurrent extra-abdominal desmoid tumor. This analysis includes all patients
seen from 1 January 1990 through 31 December 1999. A total of 11 patients were treated to 13 sites. Ten had
microscopically positive margins and three had gross residual disease. Three patients were noted to have multifocal disease at
the time of initial representation. Local control, survival, follow-up, and subsequent development of new tumors are
measured from the last day of treatment with irradiation.
Results: Thirteen sites were treated. Seven patients had received chemotherapy/hormonal therapy prior to surgery and/or
irradiation. The most commonly used drug was tamoxifen (n=6). The type of radiation delivered included external beam
irradiation alone (n=3), combined external beam irradiation and brachytherapy (n=4), brachytherapy alone (n=3) and
252-Cf neutron brachytherapy alone (n=3). Follow-up has ranged from 29 to 115 months (median=76 months). Three
patients have failed locally at 17, 24 and 29 months. One of these was treated for gross residual disease. No patient has died
of tumor-related causes. Salvage at the failed sites was possible in twom of three with re-irradiation using external neutrons
and/or aggressive surgical intervention and systemic therapy. Complications were most often noted to include decrease range
in motion, especially in joint areas, and skin reactions which were normal in presentation. In one site there was development
soft tissue necrosis.
Conclusion: Based on our experience we recommend postoperative irradiation for all recurrent extra-abdominal desmoid
lesions with microscopically or grossly positive surgical margins. Furthermore, patients with recurrent desmoid tumors
involving the bony structures of the hand or feet are poor candidates for brachytherapy alone. For patients with extremity
lesions, brachytherapy may be a reasonable treatment option provided adequate margins around the tumor bed are covered.
The continued recommended use of irradiation in this group of patients is warranted.
Desmoid tumor is a rare type of cancer that develops in the tissues that form tendons and ligaments. These tumors, also called aggressive fibromatosis, are considered benign with no metastatic potential. They may invade nearby tissues and organs, however, and can be difficult to control. Desmoid tumor in the posterior cruciate ligament (PCL) of the knee has never been described in the literature.
A 49-year-old man presented with a 2-month history of posteromedial knee dull pain and decreased range of motion of the knee. He was diagnosed desmoid tumor of posterior cruciate ligament of the knee by intraoperative biopsy, and underwent successful PCL resection and reconstruction by Four-strand semitendinosus and gracilis tendon autograft arthroscopically, and fortunately five years after operation, there were no clues as to recurrence of the tumor examined by Magnetic Resonance Imaging (MRI).
Desmoid tumor is characterized by infiltrative growth and a tendency towards recurrence,as this tumor entity is rare, data giving evidence based recommendations for the optimal treatment algorithm for this disease is lacking. At present there is no definite and effective method of treatment. However, early detection of the tumor play an important role, MRI is now the most important method for the detection of tumor extent, which facilitates the treatment choice as well as the prediction of prognosis. In our case, we followed-up the patient five years postoperatively by MRI and got a good result.
Desmoid tumor; Posterior cruciate ligament; Knee; Arthroscopical reconstruction; Surgery
Desmoid tumors most often occur in abdominal wall. Their tendency to recur lead to repeated operations which can make the abdominal wall reconstruction difficult. We report a 28-year-old female history. The patient was referred to our hospital for a recurrent desmoid tumor of the abdominal wall. The tumor was totally removed. The reconstruction was successful and the patient recovery was uneventful. Radical surgery still the mainstay of the desmoid tumors treatement. In abdominal wall location, the reconstruction can be a real challenge. Many procedures are discussed in literature. We used a double layer mesh covered by a fascial bepedicled flap. Taking into account their unpredictable behaviour and treatment complications, recurrent abdominal desmoid tumors can be managed simply and efficiently.
Desmoid tumor; recurrent tumor; abdominal wall; reconstruction
Primary intra-thoracic desmoids are exceedingly rare borderline tumors, with 34 reported cases in the English-language literature. The characteristic localized infiltrative growth and the high rate of recurrence can result in life-threatening conditions. Radical surgical resection is considered to be the primary treatment. Achieving negative surgical margins is a challenge. Cases with positive surgical margins are associated with a high rate of local recurrence; therefore, other multimodal approaches play a large role in their therapy.
The authors reviewed the relevant literature and presented examples of long-term follow-up of 3 intra-thoracic desmoid tumour patients, multidisciplinarily treated between 2000 and 2008. All reports of intra-thoracic desmoid tumors that the authors could find on PubMed or in the reference sections of these PubMed located articles were included using the search terms: intra-thoracic, desmoid, aggressive fibromatoses.
Because of the rarity of the disease and the heterogeneity of the cases, it is difficult to assess the importance of the information for everyday clinical practice. It does however provide a useful guide for reference.
desmoid tumour; intra-thoracic; aggressive-fibromatoses; b chest
Desmoid-type fibromatosis is a rare mesenchymal neoplasm with local aggressiveness. The incidence of desmoid-type fibromatosis is 2–5/million/year with intra-abdominal fibromatosis, such as that which is reported in this clinical case, occurring only in 12–18% of cases. After having analyzed the pathogenetic hypotheses of desmoid-type fibromatosis, the authors point out that the diagnosis of this disease, especially in the intra-abdominal form, is often late, specifically when highly demolitive interventions are needed or when the limits of radical surgery have been exceeded. In the clinical case reported, the tumor was infiltrating both ileus and sigma. The authors consider the differential diagnosis of desmoid-type fibromatosis, especially with GISTs, with regard to both the radiological preoperative diagnostic and histological studies on the surgical specimen. Radical surgical excision is not always, for this disease, a sign of healing; in fact, even when the resection margins are negative, the incidence of recurrence is between 13 and 68%. The average time of recurrence is between 15 and 24 months; in this case report, the patient, who has not been subjected to complementary therapies, is tumor-free for over 30 months since surgery; his prognosis may be satisfactory if we consider the negativity of resection margins, which in any case remains the most important prognostic factor.
We report here a review of the current medical literature on pregnancy associated desmoids, including 10 cases of our own. The pertinent findings are that a large percentage of desmoids in females arise in and around pregnancy. Most occur in the abdominal muscles, particularly the right rectus abdominus, perhaps related to trauma from abdominal stretching and fetal movement. While these tumors may regress spontaneously after delivery most can be surgically resected with low recurrence rates even with R1 resections and this is clearly the treatment of choice. Subsequent pregnancies do not appear to result in recurrence in either FAP or non FAP patients. It is not clear from currently available data whether pregnancy associated desmoids are molecularly distinct from other desmoids.
desmoid; pregnancy; post-partum; female
Despite reports of receptor tyrosine kinase activation in desmoid-type fibromatosis, therapeutic benefits of kinase inhibitor therapy are unpredictable. Variability in signal transduction or cellular kinases heretofore unevaluated in desmoid tumors may be responsible for these inconsistent responses. In either case, a better understanding of growth regulatory signaling pathways is necessary to assess the theoretical potential of inhibitor therapy. Immunohistochemical analysis of tyrosine kinases and activated isoforms of downstream signal transduction proteins was performed on a tissue microarray containing 27 cases of desmoid-type fibromatosis and 14 samples of scar; 6 whole sections of normal fibrous tissue were studied for comparison. Platelet-derived growth factor receptor, β type, and focal adhesion kinase 1 were expressed in all desmoid tumors and healing scars but only 80% and 50% of nonproliferative fibrous tissue samples, respectively. Hepatocyte growth factor receptor was detected in 89% of desmoids and all scars tested, but not in any of the fibrous tissue samples. Epidermal growth factor receptor was detected in only 12% of desmoids and not in scar or fibrous tissue. Mast/stem cell growth factor receptor, receptor tyrosine–protein kinase erbB-2, and phosphorylated insulin-like growth factor 1 receptor/insulin receptor were negative in all study cases. Variable levels of phosphorylated downstream signal transduction molecules RAC-α/β/γ serine/threonine-protein kinase, mitogenactivated protein kinase, and signal transducer and activator of transcription-3 were observed in desmoids (58%, 62%, and 67%), scar tissues (100%, 86%, and 86%), and fibrous tissue (33%, 17%, and 17%). These results indicate that tyrosine kinase signaling is active in both fibromatosis and healing scar, but not in most nonproliferating fibrous tissues. Although platelet-derived growth factor receptor, β type, is expressed ubiquitously in desmoids, the kinases driving cell proliferation in desmoids remain unresolved.
Desmoid-type fibromatosis; Receptor tyrosine kinase; Nonreceptor tyrosine kinase