Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome

Abstract

Rothmund-Thomson syndrome is a genetic disorder with characteristic findings in childhood as well as a predisposition to osteosarcoma, skin cancer, and hematological malignancy. We present the first reported case of duodenal malignancy in a patient with Rothmund-Thompson syndrome. An enlarged Virchow's node was noted and an advanced duodenal adenocarcinoma was diagnosed shortly thereafter. The features of Rothmund-Thomson syndrome are discussed, as well as current management and screening guidelines for duodenal adenocarcinoma.

Second Osteosarcoma in a 16-Year-old Woman Diagnosed With Rothmund-Thomson Syndrome

“…In fact, various cases of further tumors have been noted in patients with RTS. 4,7,8 Nonetheless, the appearance of 2 metachronous OS, as in our case, has been much less documented. 9 The treatment of this patient has helped us to highlight that the response to OS treatment does not differ in RTS.…”

Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome

“…It is transmitted in an autosomal recessive pattern, and in the vast majority of cases, it is caused by mutations in the RECQL4 gene located at chromosome 8q24, which codes for a protein family called RECQL4 DNA helicases. These DNA helicases are involved in the replication and repair of DNA [ 3 ]. RECQL4 mutations can lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein at all.…”

“…RTS was first described by the German ophthalmologist, Rothmund in 1868 and later in 1936 by an English dermatologist, Thomson [ 3 ]. Typically, dermatologic abnormalities manifest between three and six months of age.…”

“…An extensive literature search revealed only one case of gastric carcinoma in a patient with RTS, which was reported in 1975 [ 2 ]. One other report described a case of invasive mucinous adenocarcinoma involving the second part of the duodenum [ 3 ]. Patients with RTS have a known predisposition to various malignancies due to the defect in DNA replication and repair, osteosarcoma being the most common with a mean age of onset around 14 years.…”

“…Skin involvement in the form of squamous cell carcinoma, basal cell carcinoma, and Bowen’s disease has also been reported; however, the mean age of onset is about 34 years. Osteosarcoma has an estimated prevalence of 30% compared to skin cancers, which have an estimated prevalence of about 5% [ 3 ]. Non-malignant gastrointestinal system involvement can manifest as esophageal or pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula.…”