Adult ; Endometriosis ; diagnosis ; pathology ; Female ; Humans ; Leiomyomatosis ; complications ; diagnosis ; pathology ; Peritoneal Neoplasms ; complications ; diagnosis ; pathology

Carcinoma, Renal Cell/surgery* ; Fumarate Hydratase ; Humans ; Kidney Neoplasms/surgery* ; Leiomyomatosis/pathology*

OBJECTIVETo explore the sonographic characteristics of intraveous leiomyomatosis (IVL) with intracardiac extension and improve its diagnosis.

METHODSThe clinical and sonographic data of 13 female patients with pathologically confirmed IVL with intracardiac extension who were treated in our hospital between 2002 and 2012 were retrospectively analyzed. These patients aged 44 years old (range: 38-49 years), and 10 of them were first-episode patients and the remaining 3 were recurrent patients. Eight patients had a history of hysterectomy for leiomyoma.

RESULTSThe first-episode symptoms included exertional chest tightness and shortness of breath (n=5), abdominal distention and edema of low extermity (n=4), exertional palpitation of cardiac origin (n=3), and menorrhagia (n=1). Ultrasonography showed that all patients had isoechoic or hypoechoic tumors extended through the inferior vena cava into right heart chambers (62% in right atrium alone and 38% in right ventricle and atrium). Nine masses in right heart chamber (69.2%) were oval and 4 (30.8%) were serpentine, which were all with well-demarcated borders and most (80%) with heteroechogenic texture. Ten patients had hypoechoic or mixed echoic tumors in pelvic cavity or uterus, and 6 of them had abundant blood flow.

CONCLUSIONSIVL with intracardiac extension has certain sonographic characteristics. Ultrasonography is a valuable tool in the diagnosis of IVL with intracardiac extension.

Adult ; Female ; Humans ; Leiomyomatosis ; diagnostic imaging ; pathology ; Middle Aged ; Myocardium ; pathology ; Retrospective Studies ; Ultrasonography ; Vascular Neoplasms ; diagnostic imaging ; pathology

OBJECTIVETo investigate clinicopathological features, immunophenotype and differential diagnosis of intravenous leiomyomatosis with intracardiac extension.

METHODSClinical manifestations, morphologic features, and immunohistochemical staining were retrospectively analyzed in 19 cases of intravenous leiomyomatosis with intracardiac extension.

RESULTSThe patients' age ranged from 33 to 59 years (mean 44 years). Clinical presentation included chest tightness, palpitation, dyspnea, edema of low extremity, abdominal distention or hypermenorrhea. However, a few patients were asymptomatic. Grossly, intravenous leiomyomatosis in most cases demonstrated coiled or nodular growth within the myometrium with worm-like involvement of the uterine vein in broad ligament or other pelvic veins with continued extension into the vena cava and the heart. The intravenous tumor surface was generally smooth and rubbery, with a greyish-white color. Microscopically, the tumors were composed of spindle cells with rare mitotic figures and the presence of abundant thick-walled vessels. Marked fibrosis, hyalinization, myxoid and edematous changes were common. The tumor cells were positive for SMA, ER, PR and desmin but negative for HMB45 and S-100. CD10 and CD34 were positive in 4 patients and negative in the remaining cases.

CONCLUSIONIntravenous leiomyomatosis with intracardiac extension is a rare disease among women of child-bearing age, with specific morphologic manifestations and immunohistochemical profiles.

Adult ; Diagnosis, Differential ; Female ; Humans ; Leiomyomatosis ; diagnosis ; pathology ; Middle Aged ; Retrospective Studies ; Uterus ; pathology ; Vena Cava, Inferior ; pathology

The authors report here on a case of a nearly asymptomatic 51-year-old Korean woman who was found to have diffuse, multiple nodules of the lungs on a routine chest radiograph. She had undergone hysterectomy 16 years previously for uterine myoma. An open lung biopsy revealed tumor that was composed of interlacing bundles of spindle cells with cigar shaped nucleus and eosinophilic myofibrils in the cytoplasm; consistent with multiple leiomyomas. The stains for SMA, desmin, MSA and Ki-67 were positive and the stain for c-kit was negative. The other stains for estrogen and progesterone receptor were positive. During the open lung biopsy procedure, all the nodules were excised. We report here on an interesting case of benign metastasizing leiomyoma (BML) in 51-year-old patient. To the best of our knowledge, this case showed the longest period of clinical progression in Korea. This is also one of a few cases in which curative excision was successfully performed.
Uterine Neoplasms/*pathology/surgery ; Ovariectomy ; Middle Aged ; Lung Neoplasms/diagnosis/*secondary ; Leiomyomatosis/*pathology/surgery ; Hysterectomy ; Humans ; Female ; Disease Progression

OBJECTIVE: To analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. METHODS: Whole exome sequencing was carried out for the proband from the pedigree. Suspected FH gene variants were validated by Sanger sequencing. Clinical manifestation and histopathological examination were used to analyze the pedigree comprehensively. RESULTS: The pedigree met the clinical diagnostic criteria for HLRCC syndrome. The whole exome sequencing showed that the FH gene of the proband had a heterozygous missense variant of c.1490T>C (p.F497S), which was consistent with the Sanger sequencing. The mother, daughter and son of the proband all had the heterozygous missense variant of c.1490T>C (p.F497S). According to the American Society of Medical Genetics and Genomics Classification Standards and Guidelines for Genetic Variations, c.1490T>C (p.F497S) (PM2+PP1-M+PP3+PP4) was a possible pathogenic variant. Based on our literature search, this variant was a new variant that had not been reported. CONCLUSION The FH gene missense variant of c.1490T>C (p.F497S) may be the cause of the HLRCC syndrome pedigree, which provides a basis for the genetic diagnosis and genetic counseling of the HLRCC syndrome.
Carcinoma, Renal Cell/genetics* ; Humans ; Kidney Neoplasms/genetics* ; Leiomyomatosis/pathology* ; Mutation ; Neoplastic Syndromes, Hereditary ; Pedigree ; Phenotype ; Skin Neoplasms ; Uterine Neoplasms

Adult ; Diagnosis, Differential ; Female ; Humans ; Hysterectomy ; Leiomyomatosis ; pathology ; surgery ; Sarcoma, Endometrial Stromal ; pathology ; Uterine Neoplasms ; pathology ; surgery ; Uterus ; blood supply ; Vascular Neoplasms ; pathology ; surgery

Objective: To investigate the clinicopathologic and molecular characteristics of fumarate hydratase (FH) deficient uterine leiomyoma. Methods: Eighty cases of FH deficient uterine leiomyoma were diagnosed from April 2018 to September 2022 in Department of Pathology, Peking University Third Hospital. Sanger sequencing of FH gene exons (exon 1-10) were performed on tumor tissues and matched non-tumor tissues/peripheral blood for all cases. FH immunohistochemistry were performed in 74 cases; S-(2-succino)-cysteine (2SC) were also detected by immunohistochemistry in five cases. Results: Patients' age ranged from 18 to 54 (36.0±7.5) years, with more than 60% exhibiting clinical symptoms of multiple and large leiomyomas (the median diameter was 70 mm). More than four histologic features, including staghorn vasculature, alveolar-pattern edema, bizarre nuclei, oval nuclei arranged in chains, prominent eosinophilic nucleoli with perinucleolar haloes and eosinophilic intracytoplasmic globules were observed in 98.5% (67/68) patients. The immunohistochemical sensitivity of FH and 2SC were 97.3% and 100%, respectively. Based on the Sanger sequencing results, the cases were divided into germline variant group (31 cases), somatic variant group (29 cases) and no variant group (20 cases). Sixty-nine percent (20/29) of the patients with FH germline variation had clear family history. Conclusions: Clinical features, histological morphology, FH and 2SC immunohistochemistry and Sanger sequencing have their own significance and limitations in differential diagnosis of FH deficient uterine leiomyoma. In clinical practice, the above information should be fully integrated and studied for accurate pathologic diagnosis and selection of patients with FH germline variation.
Female ; Humans ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Fumarate Hydratase/genetics* ; Uterine Neoplasms/pathology* ; Leiomyoma/pathology* ; Germ-Line Mutation ; Diagnosis, Differential ; Leiomyomatosis/pathology* ; Carcinoma, Renal Cell/diagnosis*

Actins ; metabolism ; Female ; Heart Atria ; pathology ; Heart Neoplasms ; secondary ; surgery ; Humans ; Iliac Vein ; pathology ; surgery ; Leiomyomatosis ; metabolism ; pathology ; surgery ; Middle Aged ; Uterine Neoplasms ; metabolism ; pathology ; surgery ; Vascular Neoplasms ; metabolism ; pathology ; surgery ; Veins ; pathology ; surgery ; Vena Cava, Inferior ; pathology

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Although leiomyoma is not a major component of MEN1, it is thought to occur more frequently than expected. However, there has been no report of a case of MEN1 with leiomyoma in Korea so far. This report describes a patient with multiple leiomyomas in MEN1. A 50-year-old woman was referred for further evaluation of elevated calcium levels and osteoporosis. Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. There was hyperprolactinemia with pituitary microadenoma in sella MRI. An abdominal MRI demonstrated adrenal nodules and leiomyomas in the bladder and uterus. Endoscopic ultrasonography demonstrated esophageal leiomyoma and pancreatic islet cell tumor. A subtotal parathyroidectomy with thymectomy was performed. Sequencing of the MEN1 gene in this patient revealed a novel missense mutation (D350V, exon 7). This is the first case of MEN1 accompanied with multiple leiomyomas, parathyroid adenoma, pituitary adenoma, pancreatic tumor, and adrenal tumor.
Base Sequence ; Female ; Humans ; Leiomyomatosis/genetics/*metabolism/*pathology/radiography ; Magnetic Resonance Imaging ; Middle Aged ; Multiple Endocrine Neoplasia Type 1/genetics/*metabolism ; Mutation/genetics