Case report: Clinical and molecular features of renal gastrointestinal tumor.

While gastrointestinal stromal tumors (GISTs) often arise within the GI tract, it is well known that GISTs may also rarely emanate outside of the digestive system. Prior case reports have documented various primary sites in non-GI organs [extra-intestinal GIST (EGIST)], yet only one report has described a localized GIST of renal origin. Here, we describe a patient who presented with bilateral renal masses who was found to have a large unresectable renal GIST tumor treated with imatinib.

Immune Checkpoint Blockade Response in Mucinous Tubular and Spindle Cell Carcinoma.

Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare kidney tumor which is usually characterized by indolent disease physiology. While several high-grade and sarcomatoid MTSCC tumors have been reported, the clinical experience with contemporary immune checkpoint blockade (ICB) combination therapies extrapolated from treatment paradigms of conventional renal cell carcinoma (RCC) remains limited. Here, we report two patients with metastatic MTSCC treated with first-line ipilimumab plus nivolumab therapy who both achieved great clinical benefit.

Controversies in the Management of Mesonephric and Mesonephric-Like Adenocarcinomas of the Female Genital Tract.

Mesonephric and mesonephric-like adenocarcinomas of the gynecologic tract are a rare subset of gynecologic tumors that are frequently associated with the presence of somatic KRAS mutations. Owing to their rare nature and ability to arise in different gynecologic sites, pathologic diagnosis is often challenging and under-represented. Immunohistochemistry and routine use of next-generation sequencing has allowed these cases to be more readily identified; however, there is still a paucity of clinical outcomes data, and the efficacy of treatment paradigms remains largely unknown.

A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of with Longitudinal Follow-Up and Future Prospectives.

Malan syndrome is a rare overgrowth syndrome resulting from haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions of on chromosome 19 at p13.2. Phenotypic presentation can vary but is characterized by macrocephaly, long and slender body habitus, skeletal abnormalities, and intellectual disability.