Mercaptopurine (6-MP) for the Treatment of Manifestations of Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC)
Jonsson Comprehensive Cancer Center
Summary
This phase I/II trial studies the side effects and best dose of mercaptopurine, and to see how well it works in treating patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC). HLRCC is a rare inherited disorder that increases the risk of developing benign (not cancer) tumors of the skin and the uterus (leiomyomas) and malignant (cancer) tumors of the uterus (leiomyosarcoma) and the kidney. Mercaptopurine is in a class of medications called purine antagonists. It works by stopping the growth of cancer cells.
Description
PRIMARY OBJECTIVE: I. To identify the safety, side effects, and best dose of mercaptopurine (6-MP). SECONDARY OBJECTIVES: I. To assess clinical activity in treating metastatic fumarate hydratase (FH) Deficient Kidney Cancer. II. To assess how treatment impacts uterine fibroid clinical symptoms. III. To determine the change in menstrual bleeding. IV. To evaluate changes in pain due to leiomyomas. V. To evaluate the overall improvement in leiomyoma symptoms. EXPLORATORY OBJECTIVES: I. Associate changes in serum thiopurine metabolites (6-methylmercaptopurine \[6-MMP\] and 6-thioguanine \[6-…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Age ≥ 18 * Disease-causing, germline FH mutation including variants considered either: * a) Pathogenic/likely pathogenic OR * b) variants of unknown significance (VUS) with immunohistochemical staining showing loss of FH or high 2-SC expression in tumor tissue * Eastern Cooperative Oncology Group (ECOG) performance status (PS) ≤ 1 * Thiopurine S-methyltransferase (TPMT) and NUDT15 homozygous, wild-type genotype * TPMT\*1/TPMT\*1 and NUDT15\*1/ NUDT15\*1 * Calculated creatinine clearance ≥ 30 milliliters per minute (mL/min) per the Cockcroft and Gault formula OR s…
Interventions
- ProcedureBiopsy Procedure
Undergo tumor biopsy
- ProcedureBiospecimen Collection
Undergo collection of blood
- ProcedureComputed Tomography
Undergo CT
- ProcedureMagnetic Resonance Imaging
Undergo MRI
- DrugMercaptopurine
Given PO
- OtherQuestionnaire Administration
Ancillary studies
- ProcedureSkin Biopsy
Undergo skin biopsy
Location
- UCLA / Jonsson Comprehensive Cancer CenterLos Angeles, California