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Purpose: Uterine smooth muscle tumors of uncertain malignant potential (STUMP) is a heterogeneous group of tumors with histological and biological diversity that cannot be defined as a benign leiomyoma or malignant leiomyosarcoma. The study aims to investigate the diagnostic methods, treatment management and prognosis of STUMP patients in a 13-year period. Methods: We retrospectively reviewed the clinicopathologic information of 31 STUMP patients in Peking University People’s Hospital. Statistical analyses were conducted to compare the difference of clinical characteristics between the women in myomectomy group and those in hysterectomy group. Results: The most common clinical presentation was menstrual disorder. The tumors were mainly manifested as hypoechoic, non-cystic nodules with low blood flow signal by pelvic doppler ultrasonography. Most tumors carried Ki-67 index ranging from 10% to 30%. Immunohistochemical markers such as ER, PR, p16 and Desmin was positively expressed in tumors. At the first operation, 21 cases underwent myomectomy and 10 cases underwent hysterectomy. The patients in myomectomy group were younger than those in hysterectomy group. In the follow-up period, two cases experienced a relapse in the form of STUMP within 36 months. One case died of cardiovascular accident while the other cases were alive. Six of 21 women in myomectomy group desired pregnancy and two healthy live births were recorded.Conclusion: The diagnosis of STUMP primarily depends on histopathologic features. Fertility-sparing surgery may be a treatment selection for patients with fertility desire. Patients with STUMP, especially in the case of myomectomy, should be informed of recurrence risk and monitored closely.

RESUMEN El lipoleiomioma es una neoplasia uterina benigna poco frecuente cuya incidencia varía entre 0,03% y 0,2%. Este tumor es considerado una variante benigna de los leiomiomas uterinos típicos. Está formado por una proporción variable de adipocitos maduros y células musculares lisas. La etiología puede estar relacionada con la deficiencia de estrógenos que se produce después de la transición menopáusica; generalmente aparece en mujeres obesas perimenopáusicas o menopáusicas. La sintomatología es inespecífica y la mayoría es diagnosticada de forma incidental. Se presenta un caso de lipoleiomioma uterino en paciente de 45 años quien consultó por presentar dolor abdominal. La ecografía mostró tumor en pared anterior de un útero homogéneo y bien definido. Durante la laparotomía se encontró tumor amarillento y de textura blanda. Se realizó histerectomía total más ooforosalpingectomía. El diagnóstico anatomopatológico fue de lipoleiomioma uterino. ABSTRACT Lipoleiomyoma is a rare benign uterine neoplasm whose incidence varies between 0.03%-0.2%. This tumor is considered a benign variant of typical uterine leiomyomas. It consists of a variable proportion of mature adipocytes and smooth muscle cells. The etiology may be related to estrogen deficiency occurring after the menopausal transition; it usually appears in obese perimenopausal or menopausal women. The symptomatology is nonspecific, and most are diagnosed incidentally. We present a case of uterine lipoleiomyoma in a 45-year-old patient who consulted for abdominal pain. Ultrasonography showed a tumor in the anterior wall of a homogeneous and well-defined uterus. During laparotomy, a yellowish tumor with a soft texture was found. Total hysterectomy plus oophorosalpingectomy was performed. The anatomopathologic diagnosis was uterine lipoleiomyoma.

A novel molecular subset of epithelioid leiomyosarcomas with rhabdoid features harboring PGR gene rearrangements has recently been documented. Herein, we present a unique case of PGR-rearranged smooth muscle tumor with both PGR-NR4A3 and UBR5-PGR gene fusions reported in a 30-year-old woman who had a mass in the broad ligament. The histological examination showed a round/polygonal to spindle cell tumor with abundant myxoid matrix and focal hyalinization, resulting in an epithelioid pattern. Immunohistochemical examination revealed that the tumor had variable staining for desmin, SMA, and h-caldesmon and diffuse nuclear staining of ER, PR, and WT1. Furthermore, targeted RNA sequencing analysis revealed PGR-NR4A3 and UBR5-PGR gene fusions. Our case in addition with the reported cases suggest that myxoid matrix with two types of tumor cells (round/polygonal epithelioid cells and spindle cells) may be significant for the diagnosis of PGR-NR4A3 fusion-positive leiomyosarcoma. UBR5-PGR gene fusion is a novel finding in epithelioid leiomyosarcoma.

A 38-year-old para-2 female underwent laparoscopic myomectomy with uncontained morcellation. Three years later, she complained of epigastric pain. An intraperitoneal 3 cm mass beneath the umbilicus was showed on computed tomography (CT) scan. With the impression of gastrointestinal stromal tumor, she underwent open laparotomy at the general surgery department. A tumor was excised. Pathological examination showed that the tumor was consistent with a smooth muscle tumor of uncertain malignant potential smooth muscle tumors of uncertain malignant (STUMP). Six years postlaparoscopic myomectomy, during a regular follow-up, three parauterine masses were found on ultrasonography and CT scan. She underwent laparoscopic surgery for hysterectomy, bilateral salpingectomy, and excision of the masses. The masses were again diagnosed as STUMP. This case presents a recurrence of a rare type of smooth muscle tumor after uncontained morcellation. If myomas are to be removed with morcellation, it should only be used appropriately with a compatible containment system, and the risk of occult malignancy should be counseled.

Hereditary leiomyomatosis (HL) is a rare autosomal dominant syndrome resulting from a mutation in the germline of the fumarate hydratase (FH) gene. Patients with this syndrome have an increased risk of cutaneous and uterine smooth muscle tumors as well as renal cancer. Renal carcinoma associated with hereditary leiomyomatosis (HLRCC) was recognized as a subtype of independent renal tumor in the 2016 WHO classification. We present a case of HLRCC occurring in a 39-year-old man with no family history or specific skin manifestations at the time of diagnosis.

Uterine smooth muscle tumors of uncertain malignant potential (STUMP) represent a group of rare uterine smooth muscle tumors not diagnosed unequivocally as benign or malignant. To data, diagnostic criteria, malignant potential, surgical management, and follow-up of these neoplasms remain controversial. Considering that STUMP and leiomyoma are not significantly different in terms of clinical presentation and preoperative sonographic characteristics, it might be difficult to distinguish between the two affections prior to pathological confirmation at surgery. All cases should be managed by multidisciplinary tumor teams and patients' follow-up should comprise consultation with a gynecologic oncologist and a close surveillance because of the possibility of recurrence or metastasis. We present the case of a 32-year-old nulliparous woman admitted to our gynecology clinic. She was asymptomatic and only complained an increase in abdominal volume started during the past 6 months. A transabdominal and transvaginal pelvic ultrasound revealed a large heterogeneous tumor mass measuring 190×163 mm, color score 2, expanded in the left iliac fossa, suspected for benign uterine myoma. Subsequent magnetic resonance imaging confirmed a large pelvic-abdominal tumor located near the left posterior-lateral uterine wall with areas of necrosis, suggestive of subserosal leiomyoma with cystic degeneration. The patient underwent a median longitudinal laparotomy for excision of the pelvic mass. The patient was normally discharged five days after surgery in good health conditions. The final histological examination was compatible with STUMP. At present, the patient has had no relapses or metastases and she is undergoing follow-up.

International audience; Epstein–Barr virus (EBV) can infect smooth muscle cells causing smooth muscle tumors (SMTs) or leiomyoma. Here, we report a patient with a heterozygous 22q11.2 deletion/DiGeorge syndrome who developed a unique, broad, and lethal susceptibility to EBV characterized by EBV-infected T and B cells and disseminated EBV+SMT. The patient also harbored a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection. We show that wild-type CD137L was up-regulated on activated monocytes and dendritic cells, EBV-infected B cells, and SMT. The CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. Therefore, these results highlight the critical role of the CD137–CD137L pathway in anti-EBV immunity, in particular in the control of EBV+SMT.

Plexiform fibromyxoma (PF) is a very rare mesenchymal neoplasm of the stomach that was first described in 2007 and was officially recognized as a subtype of gastric mesenchymal neoplasm by World Health Organization (WHO) in 2010. Histologically, PF is characterized by a plexiform growth of bland spindle to ovoid cells embedded in a myxoid stroma that is rich in small vessels. The lesion is usually paucicellular. While mucosal and vascular invasion have been documented, no metastasis or malignant transformation has been reported. Its pathogenesis is largely unknown and defining molecular alterations are not currently available. There are other mesenchymal tumors arising in the gastrointestinal tract that need to be differentiated from PF given their differing biologic behaviors and malignant potential. Histologic mimics with spindle cells include gastrointestinal stromal tumor, smooth muscle tumor, and nerve sheath tumor. Histologic mimics with myxoid stroma include myxoma and aggressive angiomyxoma. Molecular alterations that have been described in a subset of PF may be seen in gastroblastoma and malignant epithelioid tumor with glioma-associated oncogene homologue 1 (GLI1) rearrangement. The recent increase in publications on PF reflects growing recognition of this entity with expansion of clinical and pathologic findings in these cases. Herein we provide a review of PF in comparison to other mesenchymal tumors with histologic and molecular resemblance to raise the awareness of this enigmatic neoplasm. Also, we highlight the challenges pathologists face when the sample is small, or such rare entity is encountered intraoperatively.

O presente trabalho objetivou descrever um caso de leiomioma vaginal em uma cadela de 22 anos de idade. O animal em questão foi atendido na Clínica Veterinária Conforto, localizada na cidade de Quatis, no estado do Rio de Janeiro, Brasil. Tratava-se de uma fêmea que apresentava aumento de volume da região perineal e secreção vulvar muco-purulenta. Após realizar exame clínico (geral e específico do trato reprodutivo) e exames complementares, que não constataram alterações clínicas relevantes, a excisão cirúrgica foi realizada e o nódulo retirado encaminhado ao exame histopatológico, que diagnosticou leiomioma vaginal. Em 10 dias após o estabelecimento da terapêutica pós-operatória, o quadro clínico apresentou completa resolução. Atualmente, o animal se apresenta saudável. Através do presente relato fornecer informações adicionais a respeito do curso desta enfermidade em cão idoso.

Uterine sarcoma is a rare verity of smooth muscle tumor, accounting for 2 to 6% of uterine malignancies. Leiomyosarcoma (LMS) represents ~1% of overall uterine tumors and ~25 to 36% of uterine sarcomas. Here we present a case of uterine LMS in a 34-year-old nulliparous woman presented with huge distension of abdomen which was confused to be an ovarian malignancy. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy. The diagnosis of LMS is made by histopathological examination after surgery. Surgery is the only treatment and role of adjuvant therapy has not been clearly defined.

Primary intracranial smooth muscle tumors are rare. Most cases are related to Epstein-Barr virus proliferation in immunocompromised patients such as organ solid recipients. Only a few cases have been reported in pediatric patients. The clinical features are very variable depending mainly on the location and size of the smooth muscle tumor (SMT) and the pathogenesis is poorly understood. We describe two cases of intracranial SMT localized in the temporal lobe and associated with EBV in immunosuppressed children. A review of the literature associated with intracranial leiomyomas was also done.

Summary Adenomyoma of the uterus is a biphasic nodular lesion composed of a mesenchymal component with smooth muscle differentiation and a glandular epithelium. The neoplastic nature of uterine adenomyomas has been controversial because some are considered to be nodular adenomyosis. MED12 mutations are involved in the pathogenesis of uterine smooth muscle tumors (leiomyomas and leiomyosarcomas) and biphasic tumors of the breast (fibroadenomas and phyllodes tumor). To investigate the histogenesis of uterine adenomyomas, we performed pathological and genetic analyses, including Sanger sequencing of MED12. In total, 15 cases of uterine adenomyomas were retrieved and assessed for clinicopathological factors. Immunohistochemistry for smooth muscle actin, desmin, and CD10 was performed. Exon 2 of MED12 was Sanger sequenced using DNA obtained by macrodissection of the adenomyomas. For cases that were positive for somatic MED12 mutations, we next performed microdissection of the mesenchymal and epithelial components. The DNA extracted from each component was further analyzed for MED12 mutations. MED12 mutations were detected in two adenomyomas (2/15, 13%), all in a known hot spot (codon 44). In both lesions, MED12 mutations were detected in multiple spots of the mesenchymal component. The epithelial component did not harbor MED12 mutations. The relatively low frequency of MED12 mutations suggests that not all adenomyomas are leiomyomas with entrapped glands. However, the results of our study suggest that a subset of uterine adenomyomas are true mesenchymal neoplasms.

Epstein‐Barr virus‐associated smooth muscle tumor (EBV‐SMT) is a rare mesenchymal tumor occurred almost exclusively in immunocompromised hosts. This article provides a systematic review of literature under PRISMA guideline on clinical features, treatment modalities, roles of surgical intervention, and outcomes of all 65 reported EBV‐SMTs with central nervous system (CNS) invasion. Over 95% of reported cases were immunocompromised, while human immunodeficiency virus infection and post‐organ transplantation were the most commonly associated underlying causes (near 90%). Despite a heterogeneous follow‐up period, a 1‐year survival rate of 76.0% and 5‐year survival rate of 59.6% may support the indolent and non‐deadly nature of EBV‐SMT even with CNS invasion. Immune survey and reconstruction should be conducted for every patient with CNS EBV‐SMT. Surgical resection is mostly adopted as primary treatment to obtain diagnosis and relieve compressive effect. A total resection of tumor may be beneficial if tumor was symptomatic and had intracranial invasion., This study systemically reviews and analyzes all reported EBV‐SMT with CNS invasion in the literature. We provide epidemiologic, therapeutic and prognostic data for patients with CNS EBV‐SMT and conclude that a higher extent of resection may provide survival benefits for treating patients with CNS EBV‐SMT, especially when tumor is single.

Tumors of the perivascular epithelioid cells (PEComa) of the uterus are rare mesenchymal tumors that are characterized by the expression of both melanocyte and smooth muscle markers. It is often difficult to distinguish PEComas from other uterine tumors: endometrial stromal sarcoma, smooth muscle tumors including epithelioid tumors, melanoma and clear cell sarcoma. We report two cases of malignant PEComas of the uterus, treated in two different hospitals, found in women over 60, presenting a clinical picture of metrorrhagia in a context of myomatous uterus. In the first case, the histological examination of the hysterectomy specimen found a diffuse proliferation of epithelioid cells expressing HMB45. In the second case, the question of the differential diagnosis of the PEComa with a uterine epithelioid leiomyosarcoma arose, in front of the weak or even absent expression of the melanocytic immunohistochemical markers (melanA negative and focal HMB 45). The opinion requested from a network of experts (RRePS) had made it possible to validate the diagnosis of PEComa, notably by carrying out a complement of immunohistochemistry (expression of cathepsin K) by the tumor cells. In spite of its rarity, the diagnosis of PEComa should be considered before this type of epithelioid or clear cell uterine tumor because of the possibility of treatment by targeted therapies such as the mTOR (mammalian target of rapamycin) inhibitors.

Leiomyoma is a benign soft tissue tumor originating from smooth muscle, rarely seen in the oral cavity, due to the scarcity of this tissue in the mouth. The tumor may occur at any age, without sex predilection. Rare reports of this lesion have been in pediatric patients. The lesion is typically asymptomatic and has slow growth, the final diagnosis is defined by histopathological and immunohistochemical examination. Treatment involves resection of the lesion. The lesion is classified histologically as solid leiomyomas, angioleiomyomas (AL), or epithelioid leiomyomas. We report the case of a 1-year-old female child with a painless papule on the hard palate. Histopathological examination revealed biphasic LA showing proliferation of spindle-shaped nuclear cells in straw-shaped bundles or a concentric design. This is the fourth documented case of AL in early childhood. How to cite this article Bezerra TMM, Chaves FN, Carvalho FSR, et al. Oral Angioleiomyoma in Early Childhood Patient: A Case Report of an Uncommon Lesion and Literature Review. Int J Clin Pediatr Dent 2021;14(6):828–832.