Trauma and sporadic desmoid tumor development - an approach toward real incidence and aspects of causality.

CTNNB1 beta catenin desmoid tumor etiology medico-legal trauma

Journal

Cancer
ISSN: 1097-0142
Titre abrégé: Cancer
Pays: United States
ID NLM: 0374236

Informations de publication

Date de publication:
26 Sep 2023
Historique:
revised: 12 07 2023
received: 12 05 2023
accepted: 02 08 2023
medline: 26 9 2023
pubmed: 26 9 2023
entrez: 26 9 2023
Statut: aheadofprint

Résumé

The development of desmoid tumors (DT) is associated with trauma, which is an aspect with medicolegal relevance. The objective of this study was to analyze the proportion and type of trauma (surgical, blunt/fracture, implants), its lag time, and mutations of the CTNNB1 gene in patients with sporadic DT. We analyzed a prospectively kept database of 381 females and 171 males, median age at disease onset 37.7 years (females) and 39.3 years (males) with a histologically confirmed DT. Patients with germline mutation of the APC gene were excluded. Details of the history particularly of traumatic injuries to the site of DT were provided by 501 patients. In 164 patients (32.7%), a trauma anteceding DT could be verified with a median lag time of 22.9 months (SD, 7.7 months; range, 9-44 months). A prior surgical procedure was relevant in 98 patients, a blunt trauma in 35 patients, a punctuated trauma (injections, trocar) in 18 patients, and site of an implant in 10 patients. In 220 patients, no trauma was reported (43.9%), and 58 females (11.6%) had a postpregnancy DT in the rectus abdominis muscle. In 42 patients (8.4%), data were inconclusive. The distribution of mutations in the CTNNB1 gene (codon 41 vs. 45) was similar in patients with and without a history of trauma before DT development. A significant subgroup of patients suffers from a trauma-associated DT, predominantly at a prior surgical site including implants to breast or groin, accounting for 77.9% of the cases, whereas blunt trauma was responsible in 22.1%. We found no data to support that trauma-associated DT have different molecular features in the CTNNB1 gene.

Identifiants

pubmed: 37751183
doi: 10.1002/cncr.35040
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2023 The Authors. Cancer published by Wiley Periodicals LLC on behalf of American Cancer Society.

Références

Reitamo JJ, Hayry P, Nykyri E, Saxen E. The desmoid tumor. I. Incidence, sex-age- and anatomical distribution in the Finnish population. Am J Clin Pathol. 1982;77(6):665-673. doi:10.1093/ajcp/77.6.665
Trautmann M, Rehkamper J, Gevensleben H, et al. Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - a systematic analysis of 204 cases. Sci Rep. 2020;10(1):3368. doi:10.1038/s41598-020-60237-6
Lazar AJ, Tuvin D, Hajibashi S, et al. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol. 2008;173(5):1518-1527. doi:10.2353/ajpath.2008.080475
Axelsson CK, Clausen B, Henriksen FW. Gardner's syndrome. Report of three cases and review of the literature. Acta Chir Scand. 1977;143:121-125.
Schiessling S, Kihm M, Ganschow P, Kadmon G, Buchler MW, Kadmon M. Desmoid tumour biology in patients with familial adenomatous polyposis coli. Br J Surg. 2013;100(5):694-703. doi:10.1002/bjs.9053
Sturt NJ, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut. 2004;53(12):1832-1836. doi:10.1136/gut.2004.042705
Aelvoet AS, Struik D, Bastiaansen BAJ, et al. Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis. Fam Cancer. 2022;21(4):429-439. doi:10.1007/s10689-022-00288-y
Urist MR. Trauma and neoplasm; report of a case of desmoid tumor following simple fracture of the radius and ulna. Am J Surg. 1957;93(4):682-688. doi:10.1016/0002-9610(57)90531-7
Enzinger FM, Shiraki M. Musculo-aponeurotic fibromatosis of the shoulder girdle (extra-abdominal desmoid). Analysis of thirty cases followed up for ten or more years. Cancer. 1967;20(7):1131-1140. doi:10.1002/1097-0142(196707)20:7<1131::aid-cncr2820200716>3.0.co;2-8
Costa PA, Marbin S, Costa B, et al. A nonrandom association of breast implants and the formation of desmoid tumors. Breast J. 2021;27(10):768-775. doi:10.1111/tbj.14276
Krupa K, Hu T, Mootz AR, Teotia SS, Wooldridge R. Large desmoid tumor in the setting of prior cosmetic breast augmentation. Eur J Breast Health. 2022;18(4):381-384. doi:10.4274/ejbh.galenos.2022.2022-7-3
Brown SB, MacDuff E, O'Dwyer PJ. Abdominal wall fibromatosis associated with previous laparoscopic hernia repair. Hernia. 2013;17(5):669-672. doi:10.1007/s10029-013-1067-x
Schlag H, Neuhoff J, Castein J, Hoffmann C, Kandziora F. Sporadic desmoid fibromatosis of the neck after dorsal spondylodesis of the cervical spine. Surg Neurol Int. 2022;13:64. doi:10.25259/sni_1240_2021
Onafowokan OO, Aujla R, Eastley N, Ashford RU. Desmoid fibromatosis associated with EndoButton use for anterior cruciate ligament reconstruction. BMJ Case Rep. 2022;15(5):e250747. doi:10.1136/bcr-2022-250747
Krishnamurthy G, Jha VC, Verma GR. Port site desmoid tumour following laparoscopic cholecystectomy: a case report. J Minim Access Surg. 2018;14(3):247-249. doi:10.4103/jmas.jmas_209_17
Kaplan DB, Levine EA. Desmoid tumor arising in a laparoscopic trocar site. Am Surg. 1998;64:388-390.
Fukuhara S, Yoshimitsu M, Yano T, et al. Mesenteric desmoid tumor after robot-assisted laparoscopic cystectomy with bladder replacement: a case report. J Surg Case Rep. 2022;2022(2):rjab529. doi:10.1093/jscr/rjab529
Cha W, Kong IG, Kim H, Hah JH, Sung MW. Desmoid tumor arising from omohyoid muscle: the first report for unusual complication after transaxillary robotic thyroidectomy. Head Neck. 2014;36(5):E48-E51. doi:10.1002/hed.23518
Wiedemann B. Desmoide in Klinik und Histologie - eine retrospektive Kohortenuntersuchung Mediacal Faculty Mannheim. University of Heidelberg; 2012.
Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK. Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis. Colorectal Dis. 2011;13(11):1222-1229. doi:10.1111/j.1463-1318.2010.02345.x
Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis. 2013;28(6):865-872. doi:10.1007/s00384-012-1600-x
Bertario L, Russo A, Sala P, et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer. 2001;95(2):102-107. doi:10.1002/1097-0215(20010320)95:2<102::aid-ijc1018>3.0.co;2-8
Carneiro C, Hurtubis C, Singh M, Robinson W. Desmoid tumors of the right rectus abdominus muscle in postpartum women. Arch Gynecol Obstet. 2009;279(6):869-873. doi:10.1007/s00404-008-0830-1
Choi SH, Lee JH, Seo BF, Kim SW, Rhie JW, Ahn ST. Desmoid tumor of the rectus abdominis muscle in a postpartum patient. Arch Plast Surg. 2012;39(04):439-441. doi:10.5999/aps.2012.39.4.439
Warren S. Minimal criteria required to prove causation of traumatic or occupational neoplasms. Ann Surg. 1943;117(4):585-595. doi:10.1097/00000658-194304000-00008
Dumont AG, Rink L, Godwin AK, et al. A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients. Ann Oncol. 2011;23(5):1335-1340. doi:10.1093/annonc/mdr442
Ewing J. The modern attitude toward traumatic cancer. Bull N Y Acad Med. 1935;11:281-333.
Ewing J. The classic: the Bulkley Lecture: the modern attitude toward traumatic cancer. 1935. Clin Orthop Relat Res. 2012;470(3):642-662. doi:10.1007/s11999-011-2235-x
Stout AP. Fibrosarcoma the malignant tumor of fibroblasts. Cancer. 1948;1:30-63. doi:10.1002/1097-0142(194805)1:1<30::aid-cncr2820010104>3.0.co;2-d
Sweis IE, McHenry CR, Jordan RB. Limb- and life-threatening desmoid tumor of the neck. Plast Reconstr Surg. 1993;92(2):335-339. doi:10.1097/00006534-199308000-00022
Hayry P, Reitamo JJ, Vihko R, et al. The desmoid tumor. III. A biochemical and genetic analysis. Am J Clin Pathol. 1982;77(6):681-685. doi:10.1093/ajcp/77.6.681
Hayry P, Reitamo JJ, Totterman S, Hopfner-Hallikainen D, Sivula A. The desmoid tumor. II. Analysis of factors possibly contributing to the etiology and growth behavior. Am J Clin Pathol. 1982;77(6):674-680. doi:10.1093/ajcp/77.6.674
Skubitz KM. Biology and treatment of aggressive fibromatosis or desmoid tumor. Mayo Clin Proc. 2017;92(6):947-964. doi:10.1016/j.mayocp.2017.02.012
Sinha A, Burns EM, Latchford A, Clark SK. Risk of desmoid formation after laparoscopic versus open colectomy and ileorectal anastomosis for familial adenomatous polyposis. BJS Open. 2018;2(6):452-455. doi:10.1002/bjs5.90
Marra A, Viale G, Pileri SA, et al. Breast implant-associated anaplastic large cell lymphoma: a comprehensive review. Cancer Treat Rev. 2020;84:101963. doi:10.1016/j.ctrv.2020.101963
Tzur R, Silberstein E, Krieger Y, Shoham Y, Rafaeli Y, Bogdanov-Berezovsky A. Desmoid tumor and silicone breast implant surgery: is there really a connection? A literature review. Aesthetic Plast Surg. 2018;42(1):59-63. doi:10.1007/s00266-017-0948-2
Kasper B, Baumgarten C, Bonvalot S, et al. Management of sporadic desmoid-type fibromatosis: a European consensus approach based on patients' and professionals' expertise - a sarcoma patients EuroNet and European Organisation for Research and Treatment of Cancer/Soft Tissue and Bone Sarcoma Group initiative. Eur J Cancer. 2015;51(2):127-136. doi:10.1016/j.ejca.2014.11.005
Desmoid Tumor Working G, Attia S, Baumgarten C, et al. The management of desmoid tumours: a joint global consensus-based guideline approach for adult and paediatric patients. Eur J Cancer. 2020;127:96-107. doi:10.1016/j.ejca.2019.11.013
Wang K, Zhang J, Dong M. Clinical features and long-term outcomes of aggressive fibromatosis of the abdominal wall after surgical resection: a retrospective study and literature review. Asia Pac J Clin Oncol. 2022;18(1):127-132. doi:10.1111/ajco.13525
De Cian F, Delay E, Rudigoz RC, Ranchere D, Rivoire M. Desmoid tumor arising in a cesarean section scar during pregnancy: monitoring and management. Gynecol Oncol. 1999;75(1):145-148. doi:10.1006/gyno.1999.5539
McLean TD, Duchi S, Di Bella C. Molecular pathogenesis of sporadic desmoid tumours and its implications for novel therapies: a systematised narrative review. Target Oncol. 2022;17(3):223-252. doi:10.1007/s11523-022-00876-z
Gounder MM. Notch inhibition in desmoids: "sure it works in practice, but does it work in theory? Cancer. 2015;121(22):3933-3937. doi:10.1002/cncr.29562
Kasper B, Gruenwald V, Reichardt P, Bauer S, Hohenberger P, Haller F. Correlation of CTNNB1 mutation status with progression arrest rate in RECIST progressive desmoid-type fibromatosis treated with imatinib: translational research results from a phase 2 study of the German Interdisciplinary Sarcoma Group (GISG-01). Ann Surg Oncol. 2016;23(6):1924-1927. doi:10.1245/s10434-016-5132-4
Bastakoty D, Young PP. Wnt/beta-catenin pathway in tissue injury: roles in pathology and therapeutic opportunities for regeneration. Faseb J. 2016;30(10):3271-3284. doi:10.1096/fj.201600502r
Bastakoty D, Saraswati S, Joshi P, et al. Temporary, systemic inhibition of the WNT/beta-catenin pathway promotes regenerative cardiac repair following myocardial infarct. Cell Stem Cells Regen Med. 2016;2. doi:10.16966/2472-6990.111
Bastakoty D, Saraswati S, Cates J, Lee E, Nanney LB, Young PP. Inhibition of Wnt/beta-catenin pathway promotes regenerative repair of cutaneous and cartilage injury. Faseb J. 2015;29(12):4881-4892. doi:10.1096/fj.15-275941
Kasper B, Gruenwald V, Reichardt P, et al. Imatinib induces sustained progression arrest in RECIST progressive desmoid tumours: final results of a phase II study of the German Interdisciplinary Sarcoma Group (GISG). Eur J Cancer. 2017;76:60-67. doi:10.1016/j.ejca.2017.02.001
Penel N, Le Cesne A, Bui BN, et al. Imatinib for progressive and recurrent aggressive fibromatosis (desmoid tumors): an FNCLCC/French Sarcoma Group phase II trial with a long-term follow-up. Ann Oncol. 2010;22(2):452-457. doi:10.1093/annonc/mdq341
Delpla PA, Rouge D, Durroux R, Rouquette I, Arbus L. Soft tissue tumors following traumatic injury: two observations of interest for the medicolegal causality. Am J Forensic Med Pathol. 1998;19(2):152-156. doi:10.1097/00000433-199806000-00010

Auteurs

Peter Hohenberger (P)

Division of Surgical Oncology, Department of Surgery, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany.
Sarcoma Unit, Interdisciplinary Tumor Center, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany.

Franka Menge (F)

Division of Surgical Oncology, Department of Surgery, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany.

Ralph Hohenberger (R)

Division of Surgical Oncology, Department of Surgery, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany.
Department of Otorhinolaryngology, Head and Neck Surgery, Heidelberg University Hospital, Heidelberg, Germany.

Bernd Kasper (B)

Sarcoma Unit, Interdisciplinary Tumor Center, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany.

Alexander Marx (A)

Institute of Pathology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.

Florian Haller (F)

Institute of Pathology, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.

Christina Baumgarten (C)

sos-Desmoid, e.V., SPAEN Sarcoma PAtients EuroNet e.V, Wölfersheim, Germany.

Eva Wardelmann (E)

Gerhard Domagk Institute of Pathology, University Hospital Muenster, Muenster, Germany.

Jens Jakob (J)

Sarcoma Unit, Interdisciplinary Tumor Center, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany.
Department of Surgery, Universitätsmedizin Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.

Classifications MeSH