Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of pediatric myofibroma/myofibromatosis of the soft tissue and bone. Methods: All cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone diagnosed between January 2011 and December 2018 were retrieved from the surgical pathology records in the Department of Pathology, Beijing Jishuitan Hospital, Beijing, China. Clinical and radiological data were collected. H&E and immunohistochemistry were used to examine histological and immunophenotypic features and to make the diagnosis and differential diagnosis. The relevant literature was also reviewed. Results: Twenty-eight cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone were respectively collected. The patients' ages ranged from 2 months to 14 years, with a mean age of 7 years. There were 7 females and 21 males. There were 12 cases located in soft tissue, including the finger (n=9), upper arm (n=1) and foot (n=2). There were 14 cases located in the bone of limb, including the femur (n=8), tibia (n=4), clavicle (n=2), fibula (n=2) and radius (n=1). There were 2 cases of myofibromatosis involving multiple bones. Radiology showed lytic lesions in the bone. The proliferation of spindle-shaped myofibroblasts arranged in fascicles with indistinct eosinophilic cytoplasm and bland nuclei, with no pleomorphism and cytological atypia. The characteristic histologic structure was the biphasic nodular growth pattern with cellular and paucicellular regions. The tumors might arrange in a hemangiopericytoma-like pattern. The stroma varied between dense fibrosis and myxoid changes. The reactive new bone formation and inflammatory cell infiltration also existed. Immunohistochemical study showed that the SMA was positive. The surgical resections were performed. One of the patients had tumor recurrence as a result of 11-month follow-up. Conclusions: The pediatric myofibroma/myofibromatosis of the soft tissue and bone is a very rare benign tumor and has a good prognosis. It has a characteristic morphology and its differential diagnosis from other spindle cell tumors could be made with the immunohistochemical analysis.
Child ; Female ; Humans ; Infant ; Male ; Bone and Bones/pathology* ; Diagnosis, Differential ; Leiomyoma ; Myofibroma/diagnosis* ; Myofibromatosis/diagnosis* ; Child, Preschool ; Adolescent

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*

The development of leiomyomas on the grounds of an aplastic/hypoplastic uterus in patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) has been rarely described. We report the first case of development of multiple leiomyomas in a patient with MRKHS complicated with pulmonary valve stenosis, and we present a narrative review of the existing literature. A 44-year-old patient with MRKHS attended our clinic because of pelvic pain, which was attributed to a pelvic mass found on ultrasound. Magnetic resonance imaging revealed a multinodular mass, indicating either ovarian pathology or the presence of leiomyomas. Exploratory laparotomy was performed, and multiple solid masses on the grounds of two rudimentary uterine buds were observed. Histological analysis revealed multiple leiomyomas arising from parametrial or paratubal tissue. We searched medical databases for articles relevant to leiomyomas and MRKHS. We present a review of the current literature and summarize the clinical manifestation, diagnosis, management, and histopathological findings of all the cases described. We underline that it is important for gynecologists to be aware of this rare clinical entity, and symptomatic leiomyomas cannot be excluded in patients with MRKHS.
Adult ; Diagnosis ; Humans ; Laparotomy ; Leiomyoma ; Magnetic Resonance Imaging ; Pathology ; Pelvic Pain ; Pulmonary Valve Stenosis ; Ultrasonography ; Uterus

OBJECTIVE: In this study, we aimed to evaluate the clinicopathological features, obstetric, and oncological outcomes of patients diagnosed with a uterine smooth muscle tumors of uncertain malignant potential (STUMP). METHODS: A dual-institutional, database review was carried out to screen patients with STUMP who were treated with upfront surgery between January 2006 and December 2017. Data including age at the time of diagnosis, recurrence rate, disease-free survival, overall survival, and fertility outcomes were retrospectively analyzed. RESULTS: Fifty-seven patients with STUMPs were included in the study. The median age at the time of diagnosis was 42 (range, 16 to 75) years. The median follow-up was 57 (range, 16 to 125) months. Eight patients (14%) had recurrence during follow-up. Recurrent STUMPs were seen in seven patients and leiomyosarcoma after 14 months in one patient. Seven patients with a recurrent STUMP survived, while the remaining patient died. Recurrence rates were similar for women who underwent myomectomy and those who underwent hysterectomy. The presence of uterine localization of tumor (subserosal vs intramural-submucosal) statistically significantly affected recurrence rates (odds ratio=5.72; 95% confidence interval=1.349–24.290; p=0.018). Ten of 27 patients who underwent myomectomy for uterine myoma had fertility desire. Seven pregnancies were recorded. CONCLUSIONS: Our study results suggest that fertility-sparing approaches are feasible in patients with STUMP, although recurrence may be seen.
Diagnosis ; Disease-Free Survival ; Female ; Fertility ; Follow-Up Studies ; Humans ; Hysterectomy ; Leiomyoma ; Leiomyosarcoma ; Muscle, Smooth ; Pregnancy ; Recurrence ; Retrospective Studies ; Smooth Muscle Tumor

OBJECTIVE: Uterine myoma which results in the magnitude of ovarian cancer remains uncertain. This study aimed to assess the association between women with previous uterine myoma and the risk of ovarian cancer. METHODS: This population-based case-control study was conducted using the Taiwan National Health Insurance Research Database between 2006 and 2010. We identified 4,088 adult women with newly diagnosed ovarian cancer with 16,348 women without ovarian cancer matched for age, urbanization level, income and initial diagnosis date. Logistic regression analyses were used to evaluate the variables associated with ovarian cancer. In addition, the effect of surgical interventions on the risk of ovarian cancer was also evaluated. RESULTS: Women with previous uterine myoma were more likely than those who did not to have ovarian cancer (adjusted odds ratio [aOR]=2.26; 95% confidence interval [CI]=2.06−2.49). Patients with uterine myoma who either received (aOR=1.79; 95% CI=1.51−2.13) or did not receive hormone replacement therapy (aOR=2.51; 95% CI=2.24−2.82) experienced a significantly higher risk of ovarian cancer than those without uterine myoma, respectively. However, patients with uterine myoma who underwent either myomectomy (aOR=0.55; 95% CI=0.39−0.77) or hysterectomy (aOR=0.33; 95% CI=0.26−0.42) had a significantly lower risk of ovarian cancer. CONCLUSION: The results revealed that a significantly higher risk of ovarian cancer in women with previous uterine myoma, through an indirect mechanism. Furthermore, a lower risk of ovarian cancer was observed in women who underwent surgical removal of the uterine myoma.
Adult ; Case-Control Studies ; Diagnosis ; Female ; Hormone Replacement Therapy ; Humans ; Hysterectomy ; Leiomyoma ; Logistic Models ; National Health Programs ; Odds Ratio ; Ovarian Neoplasms ; Taiwan ; Urbanization

BACKGROUND/AIMS: Endoscopic ultrasonography (EUS) is the most efficient imaging modality for gastric subepithelial tumors (SETs). However, abdominopelvic computed tomography (APCT) has other advantages in evaluating the characteristics, local extension, or invasion of SETs to adjacent organs. This study aimed to compare the diagnostic ability of EUS and APCT based on surgical histopathology results.METHODS: We retrospectively reviewed data from 53 patients who underwent both EUS and APCT before laparoscopic wedge resection for gastric SETs from January 2010 to December 2017 at a single institution. On the basis of histopathology results, we assessed the diagnostic ability of the 2 tests.RESULTS: The overall accuracy of EUS and APCT was 64.2% and 50.9%, respectively. In particular, the accuracy of EUS vs. APCT for the diagnosis of gastrointestinal stromal tumors (GISTs), leiomyomas, and ectopic pancreas was 83.9% vs. 74.2%, 37.5% vs. 0.0%, and 57.1% vs. 14.3%, respectively. Most of the incorrect diagnoses with EUS involved hypoechoic lesions originating in the fourth echolayer, with the most common misdiagnosed lesions being GISTs mistaken for leiomyomas and vice versa.CONCLUSIONS: APCT showed a lower overall accuracy than EUS; however, APCT remains a useful modality for malignant/potentially malignant gastric SETs.
Diagnosis ; Endosonography ; Gastrointestinal Stromal Tumors ; Humans ; Leiomyoma ; Pancreas ; Retrospective Studies

OBJECTIVES: Uterine sarcoma is a rare malignant tumor, which is usually diagnosed in postmenopausal women. These sarcomas are occasionally misdiagnosed as uterine fibroids, thereby leading to delayed diagnosis in the advanced stages. We analyzed the sonographic and clinical characteristics of unexpected uterine sarcomas detected after surgery in women in the late reproductive age.METHODS: The medical records of 61 patients preoperatively diagnosed with uterine leiomyomas through sonography but confirmed as uterine sarcomas after surgery from January 2005 to December 2018 at Asan Medical Center were retrospectively analyzed. We evaluated the clinical symptoms, sonographic findings, and Doppler indexes, and investigated whether there were any significant characteristics that could clearly differentiate uterine sarcoma from fibroids.RESULTS: The most common clinical finding was increased mass size (15 patients, 24.6%), while 9 patients (14.8%) showed no symptoms. Ultrasonography showed that the maximum diameter of most fibroids was > 5 cm (49 patients, 80.3%), and the average diameter was 75.6 ± 36.3 mm. All the patients showed heterogeneous echogenicity in sonographic imaging. Secondary degeneration of the myomas was reported in 36 patients (59%), and approximately 90% (32/36, 88.9%) showed cystic changes. Of the 40 patients who underwent the evaluation of vascularity, 35 showed increased vascularity of the mass.CONCLUSIONS: In this study, sarcomas misdiagnosed as leiomyomas were usually > 5 cm, and ultrasonography showed heterogeneous echogenicity and irregular cystic degeneration. No definite clinical symptoms were helpful; a thorough evaluation is necessary to rule out uterine sarcomas in women having uterine mass with these characteristics.
Chungcheongnam-do ; Delayed Diagnosis ; Diagnostic Errors ; Female ; Humans ; Leiomyoma ; Medical Records ; Myoma ; Retrospective Studies ; Sarcoma ; Ultrasonography

OBJECTIVES: To uncover gynecologic conditions with similar transvaginal sonographic findings of thick uterine endometrium with honeycomb appearance in pre-and postmenopausal women.METHODS: We retrospectively reviewed cases of patients with endometrial tissue biopsy from January 2010 to December 2016. We also collected office flexible hysteroscopic findings and surgical pathologic results. We analyzed data from 393 patients with confirmed endometrial pathology. Among these patients, 69 had transvaginal ultrasonographic images with thick uterine endometrium and honeycomb or “Swiss cheese” appearance.RESULTS: We found gynecologic conditions such as submucosal leiomyoma with degeneration, endometrial polyp, pseudocystic endometrial change associated with tamoxifen use, progesterone associated endometrial change, pyometra, retained placenta, and uterine synechiae manifested with similar thick endometrium with “Swiss cheese” appearance in transvaginal sonographic images. The most common diagnosis in postmenopausal women was atrophic endometritis, followed by endometrial cancer and endometrial polyps. The most common diagnosis in premenopausal women was abnormal uterine bleeding without pathologic conditions.CONCLUSIONS: Sonographic findings of thick uterine endometrium with “Swiss cheese” appearance need to be considered together with a thorough review of the patient's history and chief complaint before making a tentative diagnosis due to the various conditions sharing the feature.
Biopsy ; Diagnosis ; Endometrial Neoplasms ; Endometritis ; Endometrium ; Female ; Gynatresia ; Humans ; Hyperplasia ; Leiomyoma ; Menopause ; Pathology ; Placenta, Retained ; Polyps ; Progesterone ; Pyometra ; Retrospective Studies ; Tamoxifen ; Ultrasonography ; Uterine Hemorrhage

Angioleiomyoma is a rare type of leiomyoma variant and there are a few cases reported to date. Herein, we present a case of angioleiomyoma in a 36-year-old woman with lower abdominal pain, initially diagnosed by degenerated uterine leiomyoma. The transvaginal ultrasonogram showed an ovoid-shaped heterogeneously hyperechoic lesion in left cornual site of uterus and pelvic magnetic resonance image showed an about 5.1 cm sized heterogenous T2 intermediate high mass with poor enhancement. The patient underwent a robot-assisted laparoscopic myomectomy, and final histopathologic diagnosis revealed uterine angioleiomyoma. This case is the first case of angioleiomyoma resected by robotic surgery. The patient is on follow up for over 1 year and shows no evidence of recurrence until now.
Abdominal Pain ; Adult ; Angiomyoma* ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Leiomyoma ; Recurrence ; Robotic Surgical Procedures ; Ultrasonography ; Uterine Myomectomy ; Uterus

OBJECTIVE: This study was conducted to determine the effectiveness and safety of medical treatment with sublingual misoprostol (MS) in the 1st trimester miscarriage under the approval by Health Insurance Review and Assessment Service (HIRA) for off-label usage by the single medical center in Korea. METHODS: A retrospective cohort study was performed in one institution between April 2013 and June 2016. Ninety-one patients diagnosed with miscarriage before 14 weeks of gestation and wanted to try medical treatment were included. A detailed ultrasound scan was performed to confirm the diagnosis. Patients took 600 microgram (mcg) of MS sublingually at initial dose, and repeated the same dose 4–6 hours apart. Successful medical abortion was defined as spontaneous expulsion of gestational products (including gestational sac, embryo, fetus, and placenta). If gestational products were not expelled, surgical evacuation was performed at least 24 hours later from the initial dose. Information about side effects was obtained by medical records. RESULTS: About two-thirds of patients had a successful outcome. The median interval time from pill to expulsion was 18 hours in the successful medical treatment group. There was no serious systemic side effect or massive vaginal bleeding. Presence or absence of vaginal spotting before diagnosis of miscarriage, uterine leiomyomas, subchorionic hematoma, or distorted shape of gestational sac on ultrasound scan were not statistically different between the two groups. CONCLUSION: Medical treatment with sublingual MS can be a proper option for the 1st trimester miscarriage, especially for the patient who want to avoid surgical procedure. We can reduce the unnecessary sedation or surgical intervention in the patients with the 1st trimester miscarriage.
Abortion, Incomplete ; Abortion, Missed ; Abortion, Spontaneous* ; Administration, Sublingual ; Cohort Studies ; Diagnosis ; Embryonic Structures ; Female ; Fetus ; Gestational Sac ; Hematoma ; Humans ; Insurance, Health ; Korea* ; Leiomyoma ; Medical Records ; Metrorrhagia ; Misoprostol* ; Off-Label Use* ; Pregnancy ; Retrospective Studies ; Ultrasonography ; Uterine Hemorrhage