Rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome: a case report and review of the literature

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art_SEVERINO_Rectal_leiomyosarcoma_as_the_initial_phenotypic_manifestation_of_2022.PDF (1.21 MB)
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article
Data de publicação
2022
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Scopus
Web of Science
PubMed
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BIOMED CENTRAL LTD
Autores
SEVERINO, N. P.
WAISBERG, J.
BALSAMO, F.
HENRIQUES, A. C.
BIANCO, B.
GEHRKE, F. de Sousa
Citação
JOURNAL OF MEDICAL CASE REPORTS, v.16, n.1, article ID 468, p, 2022
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Resumo
Background: Leiomyosarcoma is a rare malignant tumor of smooth muscle origin and represents 10–20% of all soft tissue sarcomas. Primary colon and rectal sarcomas constitute < 0.1% of all large bowel malignancies. In Li–Fraumeni syndrome, sarcomas are the second most frequent cancer (25%). Li–Fraumeni syndrome is a genetic disease with a familial predisposition to multiple malignant neoplasms. This syndrome has an autosomal dominant pattern of inheritance and high penetrance characterized by germline TP53 mutations. Patients with a history of cancer who do not meet all the “classic” criteria for Li–Fraumeni syndrome are considered to have Li–Fraumeni-like syndrome. To the best of our knowledge, this article is the first report of a patient with rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome. The authors also present a literature review. Case presentation: A 67-year-old Brazilian woman underwent anterior rectosigmoidectomy and panhysterectomy secondary to rectal leiomyosarcoma. She subsequently developed carcinomatosis and died 2 years after the operation. Her family medical history consisted of a daughter who died at 32 years of age from breast cancer, a granddaughter diagnosed with adrenocortical carcinoma at 6 years of age and two siblings who died from prostate cancer. A genetic study was carried out to identify a pathogenic variant of Li–Fraumeni syndrome. In the DNA extracted from the peripheral blood leukocyte, restriction fragment length polymorphism was analyzed to search for mutations in the TP53 gene. The DNA sequencing identified the germline pathogenic variant p. R337H heterozygous in exon 10 of TP53. The patient was classified as having Li–Fraumeni-like syndrome. Conclusion: In patients with rectal leiomyosarcoma, it is advisable to investigate the family history of cancer and perform genetic studies to screen for Li–Fraumeni syndrome. © 2022, The Author(s).
Palavras-chave
Case report, Leiomyosarcoma, Li–Fraumeni syndrome, Mutation, TP53 gene
URI
https://observatorio.fm.usp.br/handle/OPI/55916
Referências
  1. Aggarwal G., Sharma S., Zheng M., Reid M.D., Crosby J.H., Chamberlain S.M., Nayak-Kapoor A., Lee J.R., Primary leiomyosarcomas of the gastrointestinal tract in the post gastrointestinal stromal tumor era, Ann Diagn Pathol, 16, 6, pp. 532-540, (2012)
  2. Meijer S., Peretz T., Gaynor J.J., Tan C., Hajdu S.I., Brennan M.F., Primary colorectal sarcoma. A retrospective review and prognostic factor study of 50 consecutive patients, Arch Surg, 125, pp. 1163-1168, (1990)
  3. Agaimy A., Wunsch P.H., True smooth muscle neoplasms of the gastrointestinal tract: morphological spectrum and classification in a series of 85 cases from a single institute, Langenbeck’s Arch Surg, 392, 1, pp. 75-81, (2007)
  4. Soft tissue and visceral sarcomas: ESMO clinical practice guidelines for diagnosis, treatment and follow-up, Ann Oncol, 25, (2014)
  5. Ognjanovic S., Olivier M., Bergemann T.L., Hainaut P., Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database, Cancer, 118, pp. 1387-1396, (2012)
  6. Amadou A., Waddington Achatz M.I., Hainaut P., Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome, Curr Opin Oncol, 30, pp. 23-29, (2018)
  7. Bougeard G., Renaux-Petel M., Flaman J.M., Charbonnier C., Fermey P., Belotti M., Gauthier-Villars M., Stoppa-Lyonnet D., Consolino E., Brugieres L., Caron O., Benusiglio P.R., Bressac-de-Paillerets B., Bonadona V., Bonaiti-Pellie C., Tinat J., Baert-Desurmont S., Frebourg T., Revisiting Li-Fraumeni syndrome from TP53 mutation carriers, J Clin Oncol, 33, pp. 2345-2352, (2015)
  8. Volc S.M., Ramos C.R.N., Galvao H.C.R., Felicio P.S., Coelho A.S., Berardineli G.N., Campacci N., Sabato C.D.S., Abrahao-Machado L.F., Santana I.V.V., Campanella N., Lengert A.V.H., Vidal D.O., Reis R.M., Dantas C.F., Coelho R.C., Boldrini E., Serrano S.V., Palmero E.I., The Brazilian TP53 mutation (R337H) and sarcomas, PLoS ONE, 15, 1, (2020)
  9. Giacomazzi C.R., Giacomazzi J., Netto C.B., Santos-Silva P., Selistre S.G., Maia A.L., Oliveira V.Z., Camey S.A., Goldim J.R., Ashton-Prolla P., Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician, Rev Assoc Med Bras, 61, 3, pp. 282-289, (2015)
  10. Andrade R.C., Dos Santos A.C., de Aguirre Neto J.C., Nevado J., Lapunzina P., Vargas F.R., TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes, Fam Cancer, 16, 2, pp. 243-248, (2017)
  11. Penkert J., Schmidt G., Hofmann W., Schubert S., Schieck M., Auber B., Ripperger T., Hackmann K., Sturm M., Prokisch H., Hille-Betz U., Mark D., Illig T., Schlegelberger B., Steinemann D., Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity, Breast Cancer Res, 20, 1, (2018)
  12. Amin M.B., Edge S.B., Greene F.L., Et al., AJCC cancer staging manual, (2017)
  13. Yamamoto H., Handa M., Tobo T., Setsu N., Fujita K., Oshiro Y., Mihara Y., Yoshikawa Y., Oda Y., Clinicopathological features of primary leiomyosarcoma of the gastrointestinal tract following recognition of gastrointestinal stromal tumours, Histopathology, 63, 2, pp. 194-207, (2013)
  14. Wang H.S., Chen W.S., Lin T.C., Lin J.K., Hsu H., Leiomyosarcoma of the rectum: a series of twelve cases, Chin Med J, 57, pp. 280-283, (1996)
  15. Chou C.L., Chang S.C., Lin T.C., Chen W.S., Jiang J.K., Wang H.S., Yang S.H., Li A.F., Lin J.K., Clinical analysis and surgical results of primary colorectal sarcoma, J Soc Colon Rectal Surg, 21, pp. 161-168, (2010)
  16. Luna-Perez P., Rodriguez D.F., Lujan L., Alvarado I., Kelly J., Rojas M.E., Labastida S., Gonzalez J.L., Colorectal sarcoma: analysis of failure patterns, J Surg Oncol, 69, pp. 36-40, (1998)
  17. Doyle L.A., Hornick J., Immunohistology of neoplasms of soft tissue and bone, Diagnostic immunohistochemistry: theranostic and genomic application, pp. 73-129, (2014)
  18. Gonzalez K.D., Noltner K.A., Buzin C.H., Gu D., Wen-Fong C.Y., Nguyen V.Q., Han J.H., Lowstuter K., Longmate J., Sommer S.S., Weitzel J.N., Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations, J Clin Oncol, 27, 8, pp. 1250-1256, (2009)
  19. Leroy B., Ballinger M.L., Baran-Marszak F., Bond G.L., Braithwaite A., Concin N., Donehower L.A., El-Deiry W.S., Fenaux P., Gaidano G., Langerod A., Hellstrom-Lindberg E., Iggo R., Lehmann-Che J., Mai P.L., Malkin D., Moll U.M., Myers J.N., Nichols K.E., Pospisilova S., Ashton-Prolla P., Rossi D., Savage S.A., Strong L.C., Tonin P.N., Zeillinger R., Zenz T., Fraumeni J.F., Taschner P.E., Hainaut P., Soussi T., Recommended guidelines for validation, quality control, and reporting of TP53 variants in clinical practice, Cancer Res, 77, 6, pp. 1250-1260, (2017)
  20. The National Comprehensive Cancer Network Clinical Practice Guidelines® in oncology: Li-Fraumeni syndrome (version 1.2015). ©2015 National Comprehensive Cancer Network, Inc., (2019)
  21. Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A., Kelsey A.M., Harris M., Jones P.H., Binchy A., Crowther D., Et al., Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families, Cancer Res, 54, 5, pp. 1298-1304, (1994)
  22. Li F.P., Fraumeni J.F., Mulvihill J.J., Blattner W.A., Dreyfus M.G., Tucker M.A., Miller R.W., A cancer family syndrome in twenty-four kindreds, Cancer Res, 48, 18, pp. 5358-5362, (1988)
  23. Eeles R.A., Germline mutations in the TP53 gene, Cancer Surv, 25, pp. 101-124, (1995)
  24. Olivier M., Goldgar D.E., Sodha N., Et al., Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype, Cancer Res, 63, pp. 6643-6650, (2003)
  25. Tinat J., Bougeard G., Baert-Desurmont S., Vasseur S., Martin C., Bouvignies E., Caron O., Bressac-de Paillerets B., Berthet P., Dugast C., Bonaiti-Pellie C., Stoppa-Lyonnet D., Frebourg T., 2009 version of the Chompret criteria for Li Fraumeni syndrome, J Clin Oncol, 27, 26, pp. e108-e109, (2009)
  26. Ferreira A.M., Brondani V.B., Helena V.P., Charchar H.L.S., Zerbini M.C.N., Leite L.A.S., Hoff A.O., Latronico A.C., Mendonca B.B., Diz M.D.P.E., de Almeida M.Q., Fragoso M.C.B.V., Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation, J Steroid Biochem Mol Biol, 190, pp. 250-255, (2019)
  27. Pinto E.M., Zambetti G.P., What 20 years of research has taught us about the TP53 pR337H mutation, Cancer, 126, 21, pp. 4678-4686, (2020)

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Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/42
Artigos e Materiais de Revistas Científicas - ODS/03