A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients

Agathe, Dumont; Rink, Lori; Godwin, Andrew K.; Miettinen, Markku; Joensuu, Heikki; Strosberg, Jonathan R.; Gronchi, Alessandro; Corless, Christopher L.; Goldstein, David; Rubin, Brian P.; Maki, Robert G.; Lazar, Alexander J.; Lev, Dina; Trent, Jonathan C.; Mehren, Margaret von

doi:10.1093/annonc/mdr442

Cited by 46 publications

(43 citation statements)

References 43 publications

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“…12 Although desmoid-type fibromatosis is rare, it occurs at higher frequency at postsurgical and trauma sites. Dumont et al reported a series of 28 cases of desmoid-type fibromatosis occurring in patients with GIST.…”

Section: Discussionmentioning

confidence: 99%

Additional Primary Malignancies in Patients with Gastrointestinal Stromal Tumor (GIST): A Clinicopathologic Study of 260 Patients with Molecular Analysis and Review of the Literature

et al. 2015

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Background The incidence of other primary neoplasms in gastrointestinal stromal tumor (GIST) patients is relatively high. Our aim was to better characterize the clinicopathologic and molecular relationships in a cohort of GIST patients. Methods All GIST patients with tumor samples sent for molecular testing were identified via electronic medical records. Clinicopathologic characteristics of GIST and additional primary malignancies were analyzed. Results Of 260 patients, 50 (19 %) had at least one additional primary malignancy. In 33 patients, separate primary neoplasms predated their GIST diagnosis and most commonly included: prostate (n = 9), breast (n = 8), and hematologic (n = 5). Renal (n = 4) and hematologic (n = 3) malignancies were the most frequent cancers identified after GIST diagnosis. The majority (8 of 12, 66 %) of malignancies diagnosed after GIST were found incidentally. Patients who developed other malignancies after GIST more often had KIT exon 11 mutations (100 vs. 66 %, P = 0.01). In comparison to patients with only GIST, patients with a second primary neoplasm of any chronology had GISTs with increased mitotic rate (≥5 per 50 high-power fields) (P = 0.0006). Literature review revealed colorectal cancer, gastric, prostate, renal, leukemia, and desmoid-type fibromatosis as the most common secondary neoplasms. Conclusions Nineteen percent of GIST patients develop other malignancies. This is the first report to describe a relationship between additional primary malignancy and both mutation and mitotic rate of GIST. Although the basis of these relationships remains to be investigated, caution in the clinical management of GIST patients with additional lesions is warranted.

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Section: Discussionmentioning

confidence: 99%

Additional Primary Malignancies in Patients with Gastrointestinal Stromal Tumor (GIST): A Clinicopathologic Study of 260 Patients with Molecular Analysis and Review of the Literature

et al. 2015

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“…[47][48][49] A non-random association between gastrointestinal stromal tumour and desmoid fibromatosis has been suggested. 50 Atypical lipomatous tumour can have areas of 'low grade' dedifferentiation with a cellular spindle cell proliferation resembling fibromatosis. 51 The lesional cells do not overexpress b-catenin, and can show immunoreactivity for MDM2, CDK4 and p16, 52,53 and MDM2 gene amplification with FISH.…”

Section: Differential Diagnosismentioning

confidence: 99%

Aggressive fibromatosis

Fisher

Thway

2014

Pathology

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Aggressive (deep or desmoid-type) fibromatoses are locally infiltrative collagen-forming tumours with potential for recurrence but not metastasis. They exert their clinical effects primarily in relation to location and have variable biological behaviour. In sporadic cases there are somatic mutations in the β-catenin (CTNNB1) gene on 3p21, resulting in immunohistochemically demonstrable overexpression in nuclei. Fibromatosis in patients with familial adenomatous polyposis (FAP) harbours inactivating germline mutations in the desmoid region of the adenomatous polyposis coli (APC) gene on 5q21-q22. The differential diagnosis includes other myofibroblastic lesions, perineurioma, low grade fibromyxoid sarcoma and, in the abdomen, gastrointestinal stromal tumour and liposarcoma with 'low-grade' dedifferentiation. The primary management is surgical, though some desmoids cease to grow and can be watched. Other therapies have a role in stabilising growth or shrinking tumours. Although no single therapy is effective in all cases, available modalities including irradiation, hormonal therapy, chemotherapy, and receptor tyrosine kinase inhibition can be of value in appropriate clinicopathological subgroups.

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“…Although there are no data to support a genetic predisposition syndrome, a germline mutation might underlie predisposition for these two tumors. On the other hand, surgical trauma has been shown to induce desmoid growth (19). Further studies will be necessary to clarify this issue.…”

Section: Discussionmentioning

confidence: 97%

“…There have been only two papers that reported individuals with both GIST and desmoid tumor (19,20). The coincidence of GIST and desmoid tumor is very rare.…”

Section: Discussionmentioning

confidence: 99%

“…The coincidence of GIST and desmoid tumor is very rare. Dumont et al (19) reported a non-random association between GIST and desmoid tumor, and the underlying biological link between the two diseases is unclear. Although there are no data to support a genetic predisposition syndrome, a germline mutation might underlie predisposition for these two tumors.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Intra-abdominal Desmoid Tumor after Resection for Gastrointestinal Stromal Tumor of the Small Intestine: Case Report

Kobayashi¹,

Sugihara²

2014

Japanese Journal of Clinical Oncology

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Mesenchymal tumors are thought to constitute only 1% of primary gastrointestinal malignancies. Both gastrointestinal stromal tumor and desmoid tumor are rare. The case of a 56-year-old male with a desmoid tumor 1 year after surgical removal of a gastrointestinal stromal tumor near the ligament of Treitz is described. Although he received adjuvant therapy of imatinib mesylate for 1 year after the surgery, a small nodule was found 1 year and 3 months after the surgery. The nodule was considered to be a recurrent tumor of gastrointestinal stromal tumor, and a wedge resection of the duodenum including the tumor was done. Histopathological examination by immunohistochemical staining revealed that it was a desmoid tumor. It would be useful to be aware of the possibility of desmoid tumor after removal of gastrointestinal stromal tumor. To accumulate further information on these rare diseases, a central database that includes rare diseases will be necessary.

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A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients

Abstract: A statistical analysis of these 28 cases suggests a nonrandom association between GIST and DT. Further studies may be able to elucidate the underlying biology responsible for this association.

Cited by 46 publications

References 43 publications

Additional Primary Malignancies in Patients with Gastrointestinal Stromal Tumor (GIST): A Clinicopathologic Study of 260 Patients with Molecular Analysis and Review of the Literature

Additional Primary Malignancies in Patients with Gastrointestinal Stromal Tumor (GIST): A Clinicopathologic Study of 260 Patients with Molecular Analysis and Review of the Literature

Aggressive fibromatosis

Intra-abdominal Desmoid Tumor after Resection for Gastrointestinal Stromal Tumor of the Small Intestine: Case Report

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