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Desmoid-type fibromatosis of the head and neck in children: a case report and review of the literature
© The Author(s). 2016
Received: 14 March 2016
Accepted: 11 May 2016
Published: 10 June 2016
Desmoid-type fibromatosis is defined as an intermediate tumor that rarely occurs in the head and neck of children. There is no doubt as to the value of complete surgical excision for desmoid-type fibromatosis. However, in pediatric patients, surgeons may often be concerned about making a wide excision because of the potential for functional morbidity. Some studies have reported a lack of correlation between margin status and recurrence. Therefore, we discussed our findings with a focus on the state of surgical margins.
We report an unusual case of a 9-month-old Japanese girl who prior to presenting at our hospital underwent debulking surgery twice with chemotherapy for desmoid-type fibromatosis of the tongue at another hospital. We performed a partial glossectomy and simultaneous reconstruction with local flap and achieved microscopic complete resection. We also reviewed available literature of pediatric desmoid-type fibromatosis in the head and neck.
We described successful treatment for the refractory case of pediatric desmoid-type fibromatosis. The review results showed that some microscopic incomplete resections of tumors in pediatric patients with desmoid-type fibromatosis tended to be acceptable with surgical treatment.
KeywordsDesmoid Fibromatosis Children Head and neck Decision-making Tongue Case report
According to the World Health Organization’s classification of head and neck tumors , desmoid-type fibromatosis (DF) is defined as a borderline tumor of soft tissues that has low malignant potential. DF is characterized by local aggressiveness with an approximate 20 % local recurrence rate, but without metastasis . The annual incidence of DF is presumed to be 0.2 to 0.4 per 100,000 individuals . Among cases of DF, 7 to 15 % of tumors occur in the head and neck [1, 3, 4]. A paper on the European Organisation for Research and Treatment of Cancer (EORTC)/Soft Tissue and Bone Sarcoma Group’s position on DF reported that a “watch and wait strategy” is the first choice in the treatment of DF in all populations and that resection with a clear margin should be considered to be a treatment option if postoperative morbidity is acceptable . Although complete resection (negative microscopic margin; CR) of the tumor is thought to be the reference standard for successful treatment in patients with DF uncontrolled by other treatment approaches, resection in the head and neck region is often difficult because of the presence of vital structures . This problem is worse in pediatric patients. In pediatric patients with DF uncontrolled by non-surgical treatments, surgeons sometimes are concerned about performing wide resections because of the high potential of postoperative morbidity. When a large tumor exists close to a vital structure, surgery with an adequate safety margin may be challenging. Although some successful cases with incomplete resection or without surgery have been reported [7–12], a randomized trial of treatment strategies has not yet been reported.
In our view, many surgeons have limited experience on how to decide on performing ablation in pediatric patients with DF. Thus, we reviewed the available literature to determine various factors that could influence treatment decisions in pediatric DF. In particular, we focused on the correlation between margin status and disease condition and if there are differences in disease condition between microscopic incomplete resection (microscopic positive margin but no remaining gross tumor; MIR) and gross incomplete resection. As part of our study, we included a case involving a 9-month-old Japanese girl with DF of the tongue who was surgically treated at our oral and maxillofacial surgery division.
We performed a review of the literature by searching PubMed and using the keywords “desmoid,” “fibromatosis,” and “pediatric.” We found 97 articles from 1982 to 2015 when we searched cross-sectionally. The established exclusion criteria were as follows: details in individual cases not described, patients who were >19-years old, reports not written in English, and tumor sites not in the head and neck. We examined the following factors in all cases: age, sex, tumor site, tumor size, treatment, margin status, recurrence, complication, disease condition, and follow-up duration. The descriptive terms of incomplete resection (MIR), residual tumor, positive, and CR, which relate to margin status, were defined as follows: MIR, microscopic positive margin but no remaining gross tumor; residual tumor, remaining gross tumor; positive, positive resection margin, but we could not determine if it was MIR or a residual tumor; CR, negative microscopic margin; and NR, data not shown. The cases were reviewed in detail and are discussed in this case report.
Primary tumor sites
Location of tumors
The number of patients
Cervical paraspinal area
Paranasal sinus (ethmoidal, sphenoid)
Floor of mouth
The results of literature review
Summary of literature review
The number of patients
Mean age (years)
Recurrence rate (%) in patients with surgery
Average follow-up duration (months)
Abstraction of principal information
1. In the margin positive patients (N=62), 29 patients did not show recurrence. After initial surgery, 16 of them did not need additional treatment.
2. In the patients having MIR, the recurrence rate (29.1 %) is lower and the NED rate (85.7 %) is higher than other margin positive status.
3. In the recurrent patients who had NED, all of them were treated with second surgery.
4. We identified postoperative complications in detail in 13 patients including radiation-induced secondary papillary carcinoma.
The main finding of our study was that the tumor control rate tended to be high in cases of MIR. Moreover, there were 29 margin-positive patients who were without recurrence. A majority of these patients had MIR (n=15), and 15 (62.5 %) of 24 patients with MIR did not show recurrence. In our view, these results suggest that a finding of MIR could be acceptable during local aggressive DF treatment in children. A paper on EORTC’s position on DF in all populations  proposed that if positive microscopic surgical margins were found at a pathological examination, no further treatment should be considered. Our review results supported this position in pediatric patients with head and neck DF. Wide resection may induce long-term functional morbidity, especially in children, and may require reconstruction. Even though microvascular reconstruction is useful in pediatric patients for well-experienced surgeons [73, 74], the decision to proceed with wide resection should be carefully considered; the results of this study may be useful when making decisions in such cases.
If progression occurs after the watch and wait strategy has been pursued, medical therapy is clearly recommended in patients with head and neck DF according to the paper on EORTC’s position . However, a standard treatment is yet to be established. Previous prospective studies in pediatric patients with DF, including a phase II trial of vinblastine plus methotrexate and tamoxifen plus NSAIDs, have reported that the CR and PR rates were 19.2 % and 8 %, respectively [75, 76]. Even when CRs are included, the total response rate is insufficient. The restrictive effectiveness of chemotherapy regimens, such as liposomal doxorubicin, anthracycline-based regimen, imatinib, and sorafenib, in the total population has been confirmed [77–80]. However, no high-grade evidence study (that is, a randomized phase III trial) has been reported. In the present study, in only one patient, chemotherapy using Adriamycin (doxorubicin) and dacarbazine achieved CR. Furthermore, in the recurrent patients, there were none with controlled NED who had been treated only with subsequent chemotherapy. They were rescued by second surgery. Therefore, at present, the therapeutic effect of chemotherapy may be limited in pediatric DF treatment. A randomized trial would be needed to confirm the efficacy of chemotherapy in pediatric DF treatment.
Although previous reports have indicated that treatments with surgery and radiotherapy in all populations improve the progression-free survival rate relative to that of surgery alone [3, 81], the use of radiotherapy during DF treatment is controversial. However, in pediatric patients, radiotherapy may be less available because of late adverse effects and lower effectiveness. Side effects including secondary carcinoma related to radiotherapy for DF in pediatric and young-adult patients have been reported [53, 82]. A medium-sized retrospective study involving 30 patients in a single institution who were treated with radiotherapy for pediatric and young-adult DF reported a lower regional control rate for patients who were <18-years old (20 %) than for those who were 18 to 30-years old (63 %) . In the present study, 13 patients received radiotherapy, and complications were identified in three patients: two patients developed secondary papillary thyroid cancer after total doses of 55 Gy and 50 to 60 Gy (not specified), and one developed osteoradionecrosis after a total dose of 55 Gy. There is no clearly standardized evidence-based radiation strategy for pediatric head and neck DF. Some refractory patients may need radiation therapy. However, it may not be reasonable to routinely consider radiotherapy for pediatric patients with DF having positive margins.
The present study cannot provide the same level of evidence as could be obtained in a prospective study, and no single institution retrospective studies were included in the review because details were lacking. However, we believe that the collected results can be helpful in making treatment decisions, especially those involving surgery, in pediatric patients with DF. In summary, microscopic positive margins in pediatric DF did not always lead to an uncontrolled condition. In some patients, such findings appeared to be acceptable in pediatric patients with local aggressive DF. Nevertheless, further evidence-based approaches are needed before DF treatment strategies can be standardized.
CR, complete resection; DF, desmoid-type fibromatosis; EORTC, European Organisation for Research and Treatment of Cancer; MIR, microscopic incomplete resection; MRI, magnetic resonance imaging; NED, no evidence of disease; NR, data not shown; PD, progressive disease; PR, partial response; SD, stable disease
HK and HM drafted and critically reviewed the manuscript. HK, HM, and MY performed the operation and clinical follow-up of the patient. TS and KM contributed to data collection and literature search. SA and TN conceived of the study and participated in its design. All authors read and approved the final manuscript.
The authors declare that they have no competing interests.
Written informed consent was obtained from the patient’s legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
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