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Review
. 2022 Dec 19;16(1):468.
doi: 10.1186/s13256-022-03671-6.

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

Natalia Parisi Severino  1 , Jaques Waisberg  2   3 , Maria Candida Barisson Villares Fragoso  4 , Luiz Guilherme Cernaglia Aureliano de Lima  5 , Flavia Balsamo  2 , Alexandre Cruz Henriques  2 , Bianca Bianco  6 , Flávia de Sousa Gehrke  7
Affiliations
Review

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

Natalia Parisi Severino et al. J Med Case Rep. .

Abstract

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.

Keywords: Case report; Leiomyosarcoma; Li–Fraumeni syndrome; Mutation; TP53 gene.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Nuclear magnetic resonance of the pelvic region with an expansive mass in the rectum (shown by arrows). Cross-sections of T1 (A) and T2 (B)
Fig. 2
Fig. 2
Surgical specimen of en bloc resection of anterior rectosigmoidectomy and panhysterectomy for rectal leiomyosarcoma. A Macroscopic aspect of the surgical specimen. B Open rectum, where the arrow indicates the tumor
Fig. 3
Fig. 3
Photomicrographs of leiomyosarcoma. A Infiltrative atypical spindle cell neoplasm in colic mucosa lamina propria (hematoxylin and eosin, ×40). B Neoplasm with sparse atypical cells, bizarre nuclei, hyperchromasia, and pleomorphism (HE, ×100)
Fig. 4
Fig. 4
Photomicrograph. Leiomyosarcoma: positive cells strongly and diffusely positive for the smooth muscle marker h-Caldesmon (immunohistochemistry, ×400)
See this image and copyright information in PMC

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