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6 recordsLinked to original sources
PubMed2026

Pathology-Driven Diagnosis of Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Clinicopathological and Genetic Analysis of Three Cases.

INTRODUCTION: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant disorder characterized by three principal clinical features: cutaneous leiomyomas (cLMs), uterine leiomyomas, and fumarate hydratase (FH)-deficient renal cell carcinoma (RCC). Although 200-300 families have been identified worldwide, its true prevalence remains unknown. CASE PRESENTATIONS: We present three HLRCC cases in which detailed pathological examination raised initial clinical suspicion. Cases 1 and 2 presented with advanced RCC exhibiting diverse morphologies. Case 3 presented with multiple painful cLMs and no renal tumors. All three cases were confirmed via germline genetic testing, which revealed distinct FH mutations. CONCLUSIONS: These cases underscore the importance of careful histopathological and immunohistochemical evaluation for the diagnosis of HLRCC. Multidisciplinary discussion integrating clinical, radiological, pathological, and genetic findings is essential for identifying affected families and initiating timely surveillance.

cutaneous leiomyoma↗
PubMed2024

Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase (FH) gene that manifests with cutaneous leiomyomas, uterine fibroids, and renal cell cancer (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is no standardized therapy for advanced HLRCC-RCC. In this study, we described a case of aggressive HLRCC in a 33-year-old female who exhibited a novel heterozygous germline insertion mutation in exon 8 of the FH gene (c.1126 C > T; p.Q376*). The patient underwent laparoscopic resection of the right kidney, but metastases appeared within 3 months after surgery. Histological staining of the resected tumor revealed high expression levels of programmed cell death-ligand 1 (PD-L1). Therefore, the patient was treated with immunotherapy. The patient achieved a partial response to immunotherapy, and the treatment of metastatic lesions has continued to improve. A thorough literature review pinpointed 76 historical cases of HLRCC-RCC that had undergone immunotherapy. From this pool, 46 patients were selected for this study to scrutinize the association between mutations in the FH gene and the effectiveness of immunotherapy. Our results indicate that immunotherapy could significantly improve the overall survival (OS) of patients with HLRCC-RCC. However, no influence of different mutations in the FH germline gene on the therapeutic efficacy of immunotherapy was observed. Therefore, our study suggested that immunotherapy was an effective therapeutic option for patients with HLRCC regardless of the type of FH germline mutation.

Humans↗
PubMed1978

Calcified primary tumors of the gastrointestinal tract.

The dominant pattern and location of calcifications occurring within 23 primary gastrointestinal tumors have been analysed and correlated with the data from the literature. The provided guidelines for radiologic diagnosis of such calcified tumors include: (1) a retrocardiac mass containing amorphous calcifications is typical of leiomyoma of the esophagus; (2) calcific deposits similar to that in uterine fibroids may be the feature of gastric leiomyoma or intestinal leiomyosarcoma; (3) sand-like deposits within the wall of the stomach or colon are characteristic of a mucinous adenocarcinoma; (4) clusters of phleboliths in the gastrointestinal wall suggest a hemangioma particularly if recurrent intestinal bleeding and cutaneous hemangiomas are associated; (5) sunburst type of calcification in the pancreas indicates a cystadenoma or cystadenocarcinoma of that organ; and (6) aggregates of granular calcifications in the liver are diagnostic for metastatic adenocarcinoma of the colon but may rarely be seen in a primary malignancy of the liver.

Adenocarcinoma↗
PubMed1979

Pelvic mass presenting as meralgia paresthetica.

A 40-year-old woman presented to her gynecologist with an apparent unilateral neuropathy of the lateral cutaneous femoral nerve of the thigh (meralgia paresthetica). On examination, the sensory disturbance extended outside the usual distribution of the lateral femoral cutaneous nerve, suggesting a more proximal lumbar plexus involvement. She was subsequently found to have uterine fibroid disease. At the time of surgery a large posteriorly situated uterine mass was noted to compress the superior portion of the lumbar plexus. Following surgery, she has been symptom-free.

Adult↗