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

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Abstract
Desmoid-type fibromatosis, also called desmoid tumor, is a locally aggressive myofibroblastic neoplasm that usually arises in deep soft tissue with significant potential for local recurrence. It displays an unpredictable clinical course. beta-Catenin, the genetic key player of desmoid tumors shows nuclear accumulation due to mutations that prevent its degradation leading to activation of Wnt signaling and myofibroblastic cell proliferation. The corresponding hot spot mutations are located in exon 3 of the CTNNB1 gene or alternatively, in the APC tumor suppressor gene, most often as a germline mutation. Multifocal desmoid tumors are very rare and clinical characteristics are poorly understood. 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.
Keywords
Desmoid, Fibromatosis, Soft tissue tumors, AGGRESSIVE FIBROMATOSIS, BETA-CATENIN, LOCAL RECURRENCE, TUMORS, MUTATIONS, MANAGEMENT

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Chicago
Bekers, Elise M, Danique LM van Broekhoven, Thijs van Dalen, Johan J Bonenkamp, Ingrid CM van der Geest, Jacky WJ de Rooy, Joost M van Gorp, et al. 2018. “Multifocal Occurrence of Extra-abdominal Desmoid Type Fibromatosis : a Rare Manifestation : a Clinicopathological Study of 6 Sporadic Cases and 1 Hereditary Case.” Annals of Diagnostic Pathology 35: 38–41.
APA
Bekers, E. M., van Broekhoven, D. L., van Dalen, T., Bonenkamp, J. J., van der Geest, I. C., de Rooy, J. W., van Gorp, J. M., et al. (2018). Multifocal occurrence of extra-abdominal desmoid type fibromatosis : a rare manifestation : a clinicopathological study of 6 sporadic cases and 1 hereditary case. ANNALS OF DIAGNOSTIC PATHOLOGY, 35, 38–41.
Vancouver
1.
Bekers EM, van Broekhoven DL, van Dalen T, Bonenkamp JJ, van der Geest IC, de Rooy JW, et al. Multifocal occurrence of extra-abdominal desmoid type fibromatosis : a rare manifestation : a clinicopathological study of 6 sporadic cases and 1 hereditary case. ANNALS OF DIAGNOSTIC PATHOLOGY. 2018;35:38–41.
MLA
Bekers, Elise M, Danique LM van Broekhoven, Thijs van Dalen, et al. “Multifocal Occurrence of Extra-abdominal Desmoid Type Fibromatosis : a Rare Manifestation : a Clinicopathological Study of 6 Sporadic Cases and 1 Hereditary Case.” ANNALS OF DIAGNOSTIC PATHOLOGY 35 (2018): 38–41. Print.
@article{8559795,
  abstract     = {Desmoid-type fibromatosis, also called desmoid tumor, is a locally aggressive myofibroblastic neoplasm that usually arises in deep soft tissue with significant potential for local recurrence. It displays an unpredictable clinical course. 
beta-Catenin, the genetic key player of desmoid tumors shows nuclear accumulation due to mutations that prevent its degradation leading to activation of Wnt signaling and myofibroblastic cell proliferation. The corresponding hot spot mutations are located in exon 3 of the CTNNB1 gene or alternatively, in the APC tumor suppressor gene, most often as a germline mutation. 
Multifocal desmoid tumors are very rare and clinical characteristics are poorly understood. 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.},
  author       = {Bekers, Elise M and van Broekhoven, Danique LM and van Dalen, Thijs and Bonenkamp, Johan J and van der Geest, Ingrid CM and de Rooy, Jacky WJ and van Gorp, Joost M and Creytens, David and de Leng, Wendy WJ and Scheijen, Blanca and Eijkelenboom, Astrid and Flucke, Uta},
  issn         = {1092-9134},
  journal      = {ANNALS OF DIAGNOSTIC PATHOLOGY},
  language     = {eng},
  pages        = {38--41},
  title        = {Multifocal occurrence of extra-abdominal desmoid type fibromatosis : a rare manifestation : a clinicopathological study of 6 sporadic cases and 1 hereditary case},
  url          = {http://dx.doi.org/10.1016/j.anndiagpath.2018.04.001},
  volume       = {35},
  year         = {2018},
}

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