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The Desmoid Tumor Research Foundation

April 2018

Multifocal occurrence of extra-abdominal desmoid type fibromatosis – A rare manifestation. A clinicopathological study of 6 sporadic cases and 1 hereditary case

Author Information

Bekers EM(1), van Broekhoven DLM(2), van Dalen T(3), Bonenkamp JJ(4), van der Geest ICM(5), de Rooy JWJ(6), van Gorp JM(7), Creytens DH(8), de Leng WWJ(9), Scheijen B(10), Eijkelenboom A(10), Flucke U(10).

(1)Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pathologie (DNA), Jeroen Bosch Hospital, Den Bosch, The Netherlands. (2)Erasmus MC Cancer Institute, Rotterdam, The Netherlands. (3)Department of Surgery Diakonessenhuis Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands. (4)Department of Surgical Oncology, Radboud University Medical Center, Nijmegen, The Netherlands. (5)Department of Orthopedics, Radboud University Medical Center, Nijmegen, TheNetherlands. (6)Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. (7)Department of Pathology, Diakonessenhuis Utrecht, The Netherlands. (8)Department of Pathology, Ghent University Hospital, Ghent, Belgium. (9)Department of Pathologie, University Medical Center Utrecht, Utrecht, The Netherlands. (10)Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.

Publication

Ann Diagn Pathol

Summary

Here we present six sporadic and one familial case of multifocal desmoid tumors. Four female and three male patients, aged between 7 and 30 years (mean 18.4 years) were identified in a cohort of 1392 cases. Tumors were located in (distal) extremities, thorax, breast, abdominal wall, shoulder, and neck. Four cases showed a CTNNB1 mutation and one an APC germline mutation. In two sporadic cases no CTNNB1 mutation was identified. Four patients showed (multiple) recurrences and one patient was lost to follow-up. In conclusion, multifocal desmoid tumors are a very rare disease and may occur in sporadic cases that are characterized by recurrent CTNNB1 mutations. However, the underlying pathogenesis of multifocal desmoid tumors remains poorly understood with often aggressive clinical behavior and challenging therapeutical management.

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