Multiple Cutaneous and Uterine Leiomyomas Associated with Gastric Gist

Lamba, Manisha; Verma, Shailendra; Prokopetz, Robert; Pierscianowski, Tadeusz A.; Jabi, Maha; Moyana, Terence

doi:10.1007/s10227-005-0114-3

Cited by 13 publications

(10 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other phenotypic features of the FH mutation carriers Several other tumors have been reported in the FH mutation carriers including adrenal gland adenomas, breast, bladder and brain tumors, lymphoid malignancies, basal cell carcinomas, thyroid lesions, ovarian cystadenomas, one case with an ovarian cyst and a gastric polyp, and one with a gastrointestinal tumor [5,11,14,23,[49][50][51][52]. However, data on biallelic inactivation of FH, in addition to leiomyomas and RCC, has only been presented in three cases of breast cancer, one bladder cancer, two adult Leydig cell tumors, and in one adrenocortical hyperplastic lesion associated with Cushing syndrome [23,53,54].…”

Section: Renal Tumorsmentioning

confidence: 97%

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

2011

View full text Add to dashboard Cite

Hereditary leiomyomatosis and renal cell cancer (HLRCC, also known as multiple cutaneous and uterine leiomyomatosis, MCUL) is a highly penetrant autosomal dominant tumor predisposition syndrome characterized by benign leiomyomas of the skin and the uterus. Renal cell carcinomas, occurring in a subset of the HLRCC families, are exceptionally aggressive. Therefore careful, frequent surveillance strategies are recommended. Association of malignant smooth-muscle tumors, leiomyosarcomas, with HLRCC has been observed but the risk appears to be smaller than initially estimated. To date inactivating heterozygous mutations in the fumarate hydratase (FH, fumarase) gene, predisposing to HLRCC, have been found in approximately 180 families worldwide. The most extensively studied hypothesis on molecular mechanisms of HLRCC tumorigenesis is activation of the hypoxia pathway due to aberrant stabilization of the HIF1 transcription factor. HIF1 regulates transcription of genes relevant for vascularization, glucose transport and glycolysis, processes that facilitate tumor growth. However, additional mechanisms underlying tumor formation are likely to exist.

show abstract

Section: Renal Tumorsmentioning

confidence: 97%

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

2011

View full text Add to dashboard Cite

show abstract

“…An important aspect of GIST is their association with other malignancies; the literature of this continues to grow [28][29][30][31][32][33][34][35][36][37]. The reported malignancies include gastric carcinoma [28], colorectal adenocarcinoma [28,37], chronic lymphocytic leukemia [28], carcinoid of the pancreas [28], several gastrointestinal malignancies [29], cutaneous, uterine, and esophageal leimyomata [30,31], neurofibromatosis type 1 [32], gastric Mucosa Associated Lymphoid Tissue lymphoma [33,34], follicular carcinoma of thyroid [35], pulmonary chondroma and extra-adrenal paraganglioma (constituting Carney's triad) [36], and prostate carcinoma [38].…”

Section: Serendipitous Observations: Detection Of Synchronous and Metmentioning

confidence: 99%

FDG-PET and PET/CT in the clinical management of gastrointestinal stromal tumor

Basu

Mohandas²,

Peshwe³

et al. 2008

Nuclear Medicine Communications

View full text Add to dashboard Cite

The management of gastrointestinal stromal tumors (GISTs) has been revolutionized in recent years by two major developments: the introduction of imatinib mesylate as a targeted therapeutic agent and the dramatic change in the tumor metabolic activity following successful therapy making in fluorodeoxyglucose (FDG)-PET as the modality of choice for monitoring therapeutic response. In the present communication, we have explored the current role of PET/computed tomography (CT) imaging in GIST on the basis of a brief overview of the published studies and our experience on the subject gained in a large tertiary care setting. There is now convincing evidence that serial PET study is more sensitive and reliable for determining treatment response to imatinib mesylate in patients of GIST, when compared with only conventional CT monitoring. This modality also appears to be of potential value in initial disease evaluation including prediction of malignant potential in recently diagnosed GIST and in selection of optimal dose of imatinib for therapy. The findings of detection of disease recurrence on discontinuing imatinib and acquired resistance to imatinib provide insight into the issue of therapeutic endpoint definition. On the basis of the experience gained in recent times, the future potential of this powerful modality in this setting is hypothesized.

show abstract

“…18 Although GISTs share a mesenchymal origin with leiomyomas, there are several morphologic and biologic aspects suggesting that GISTs derive from a different cell type, namely, the precursors of the interstitial cells of Cajal.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

View full text Add to dashboard Cite

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.

show abstract

Multiple Cutaneous and Uterine Leiomyomas Associated with Gastric Gist

Abstract: We report an interesting association of cutaneous leiomyomatosis, uterine leiomyomas and GIST.

Cited by 13 publications

References 14 publications

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

FDG-PET and PET/CT in the clinical management of gastrointestinal stromal tumor

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

Contact Info

Product

Resources

About