Gastric Leiomyoma and Hyperplastic Polyposis Coli in a Patient with Multiple Cutaneous and Uterine Leiomyomatosis

Abstract

Background: Cutaneous leiomyomatosis has been associated with multiple uterine myomas and, more recently, with germline heterozygous mutations of the FH gene and certain types of renal cancer. Despite the growing amount of knowledge concerning this genodermatosis, its clinical spectrum remains incompletely characterized. Objective: We report the observation of a patient with multiple cutaneous and uterine leiomyomatosis (MCUL) with unusual gastrointestinal manifestations. Methods and Results: A gastric leiomyoma was diagnosed on a 38-year-old female MCUL patient on endoscopy performed because of mild dyspepsia. Furthermore, routine colonoscopy disclosed hyperplastic polyposis. Genetic testing revealed a previously not reported mutation of the FH gene. Conclusion: Gastrointestinal lesions such as the present ones are frequently asymptomatic and probably underdiagnosed. As the phenotypical spectrum associated with mutations of the FH gene keeps expanding, clinicians should keep in mind that, besides renal cancer, other unexpected tumors could also arise in this setting.

Co-relation of gastrointestinal stromal tumors in a patient with leiomyoma cutis- A rare association

“…Mutations associated with leiomyomatosis result in the absence or truncation of proteins, or substitutions or deletions of highly conserved amino acids. Fumarate hydratase, a crucial enzyme in the tricarboxylic acid cycle for cellular energy production and a tumor suppressor, shows decreased activity in individuals with cutaneous leiomyomas [ 5 ], as well as in cases of uterine leiomyosarcomas, ovarian mucinous cystadenomas, Leydig cell tumors, macronodular adrenocortical disease, and gastric leiomyoma with hyperplastic polyposis coli [ 6 ]. Women with multiple cutaneous leiomyomata often concurrently have uterine leiomyomas, a condition known as Reed's syndrome [ 7 ].…”

Gastrointestinal Stromal Tumour in a Patient with Multiple Cutaneous and Uterine Leiomyomatosis- Implications and Anaesthetic Management

“…Serra and colleages reported a case of gastric leiomyoma and hyperplastic polyposis coli in a 44 year old female with MCUL which carried a new mutation of the fumarate hydratase (FH) gene [11]. Both Leiomyomas and GISTs have a mesenchymal origin, but GISTs are morphologically and biologically different and are derived from the precursors of the interstitial cells of Cajal [17].…”

“…Apart from RCC, MCUL has also been associated with uterine leiomyosarcomas, macronodular adrenocortical disease, benign ovarian tumours and leydig cell tumours of the testis [11]. It has also recently been associated with gastric leiomyoma and hyperplastic polyposis coli [11]. Gastrointestinal Stromal Tumours (GIST) have been reported to be associated with MCUL only once previously in literature [5] to the best of our knowledge.…”

“…These patients with RCC are known to have mutations in the 'Fumarate Hydratase' gene [10]. Apart from RCC, MCUL has also been associated with uterine leiomyosarcomas, macronodular adrenocortical disease, benign ovarian tumours and leydig cell tumours of the testis [11]. It has also recently been associated with gastric leiomyoma and hyperplastic polyposis coli [11].…”

Bioenergetic alteration in gastrointestinal cancers: The good, the bad and the ugly

“…Genetic variants in FH or SDH complex subunits, including SDHA, SDHB, SDHC, and SDHD, have been associated with increased risk of certain cancers such as hereditary leiomyomatosis and renal cell cancer (HLRCC)[ 118 , 119 ] as well as paraganglioma and pheochromocytoma[ 120 - 123 ]. Although there is limited evidence involving genetic mutants of FH or SDH complex subunit genes in GI cancer, an unusual mutation of the FH gene was found to be associated with the development of gastric leiomyoma following cutaneous and uterine leiomyomatosis[ 124 ]. Except for loss-of-function mutations, some researchers have revealed FH and SDH complex subunit gene single nucleotide polymorphisms (SNP) in patients with HCC and CRC[ 125 , 126 ].…”