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1.
Yi Chuan ; 46(8): 603-626, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39140142

ABSTRACT

Uterine leiomyosarcoma (uLMS) is a type of malignant soft-tissue tumor, which is developed from myometrium in the female reproductive system. This disease is difficult to be distinguished from benign uterine leiomyoma in the early stages, but it progresses aggressively and relentlessly. Hence, uLMS has a dismal prognosis and high rates of both misdiagnosis and missed diagnosis. Unfortunately, current studies of uLMS pathogenesis and disease biology are inadequate. uLMS disease models are also very limited, hindering the development of effective therapeutics. In this review, we focus on the pathological molecular biology of uLMS, and systematically review the molecular genetic features, epigenetic variants, experimental models, and clinical research progress of uLMS. We further discuss the development direction and potential needs of uLMS in the fields of tumor evolution, tumor microenvironment, and tumor therapy, with the aim of providing a better understanding of the pathobiological mechanism of uLMS and providing a reference for the development of potential diagnostic and therapeutic strategies.


Subject(s)
Leiomyosarcoma , Uterine Neoplasms , Leiomyosarcoma/genetics , Leiomyosarcoma/diagnosis , Humans , Female , Uterine Neoplasms/genetics , Uterine Neoplasms/diagnosis , Animals , Tumor Microenvironment/genetics
2.
Georgian Med News ; (350): 42-48, 2024 May.
Article in English | MEDLINE | ID: mdl-39089269

ABSTRACT

Most mesenchymal tumors found in the uterine corpus are benign tumors; however, uterine leiomyosarcoma is a malignant tumor with unknown risk factors that repeatedly recurs and metastasizes. In some cases, the histopathologic findings of uterine leiomyoma and uterine leiomyosarcoma are similar and surgical pathological diagnosis using excised tissue samples is difficult. It is necessary to analyze the risk factors for human uterine leiomyosarcoma and establish diagnostic biomarkers and treatments. Female mice deficient in the proteasome subunit low molecular mass peptide 2 (LMP2)/ß1i develop uterine leiomyosarcoma spontaneously. MATERIAL AND METHODS: Out of 334 patients with suspected uterine mesenchymal tumors, patients diagnosed with smooth muscle tumors of the uterus were selected from the pathological file. To investigate the expression status of biomarker candidate factors, immunohistochemical staining was performed with antibodies of biomarker candidate factors on thin-cut slides of human uterine leiomyosarcoma, uterine leiomyoma, and other uterine mesenchymal tumors. RESULTS AND DISCUSSION: In human uterine leiomyosarcoma, there was a loss of LMP2/ß1i expression and enhanced cyclin E1 and Ki-67/MIB1 expression. In human uterine leiomyomas and normal uterine smooth muscle layers, enhanced LMP2/ß1i expression and the disappearance of the expression of E1 and Ki-67/MIB1 were noted. The pattern of expression of each factor in other uterine mesenchymal tumors was different from that of uterine leiomyosarcoma. CONCLUSIONS: LMP2/ß1i, cyclin E1, and Ki-67/MIB1 may be candidate factors for biomarkers of human uterine leiomyosarcoma. Further large-cohort clinical trials should be conducted to establish treatments and diagnostics for uterine mesenchymal tumors.


Subject(s)
Biomarkers, Tumor , Cyclin E , Leiomyoma , Leiomyosarcoma , Oncogene Proteins , Uterine Neoplasms , Humans , Female , Uterine Neoplasms/pathology , Uterine Neoplasms/metabolism , Uterine Neoplasms/diagnosis , Uterine Neoplasms/genetics , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Leiomyosarcoma/genetics , Leiomyosarcoma/metabolism , Leiomyosarcoma/pathology , Leiomyosarcoma/diagnosis , Leiomyoma/metabolism , Leiomyoma/pathology , Leiomyoma/diagnosis , Leiomyoma/genetics , Oncogene Proteins/genetics , Oncogene Proteins/metabolism , Cyclin E/metabolism , Cyclin E/genetics , Proteasome Endopeptidase Complex/metabolism , Proteasome Endopeptidase Complex/genetics , Ki-67 Antigen/genetics , Ki-67 Antigen/metabolism , Middle Aged , Adult , Cysteine Endopeptidases
3.
J Med Primatol ; 53(4): e12727, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39099092

ABSTRACT

A captive marmoset developed metastatic endometrioid carcinoma (EnC), a rare uterine tumor in non-human primates (NHPs). The neoplasm showed marked microscopical malignant and tubulopapillary aspects, immunopositivity for pan-cytokeratin, CK7, estrogen receptor, and a high mitotic index (Ki-67). These features may contribute to the diagnosis and therapeutics of EnC in NHPs.


Subject(s)
Callithrix , Carcinoma, Endometrioid , Monkey Diseases , Animals , Female , Carcinoma, Endometrioid/veterinary , Carcinoma, Endometrioid/pathology , Carcinoma, Endometrioid/diagnosis , Monkey Diseases/pathology , Monkey Diseases/diagnosis , Uterine Neoplasms/veterinary , Uterine Neoplasms/pathology , Uterine Neoplasms/diagnosis
4.
BMJ Case Rep ; 17(8)2024 Aug 22.
Article in English | MEDLINE | ID: mdl-39179269

ABSTRACT

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal-dominant disorder that results from a germline pathogenic variant in the fumarate hydratase (FH) gene on chromosome 1, characterised by renal cell carcinoma (RCC), cutaneous leiomyoma and uterine leiomyoma. Leiomyosarcomas are reported in less than 1% of those with HLRCC. We report a case of a man in his 30s who had a long-standing plaque excised from the left upper arm after undergoing a radical nephrectomy for a fumarate-deficient RCC, with histological exam revealing a grade 1 leiomyosarcoma. Genetic testing confirmed a heterozygous pathogenic variant in the FH gene. This is a rare case of leiomyosarcoma associated with HLRCC, and our patient remains under surveillance with interval abdominal imaging and skin examination. Leiomyosarcomas are difficult to distinguish clinically from their benign counterpart; therefore, histopathological examination is paramount with a low threshold for excision.


Subject(s)
Fumarate Hydratase , Leiomyomatosis , Leiomyosarcoma , Neoplastic Syndromes, Hereditary , Skin Neoplasms , Uterine Neoplasms , Humans , Leiomyomatosis/genetics , Leiomyomatosis/pathology , Leiomyomatosis/surgery , Leiomyomatosis/diagnosis , Male , Skin Neoplasms/genetics , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Leiomyosarcoma/genetics , Leiomyosarcoma/diagnosis , Leiomyosarcoma/surgery , Leiomyosarcoma/pathology , Neoplastic Syndromes, Hereditary/genetics , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/surgery , Neoplastic Syndromes, Hereditary/pathology , Uterine Neoplasms/genetics , Uterine Neoplasms/pathology , Uterine Neoplasms/diagnosis , Uterine Neoplasms/surgery , Adult , Fumarate Hydratase/genetics , Nephrectomy , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/surgery
6.
BMC Womens Health ; 24(1): 445, 2024 Aug 07.
Article in English | MEDLINE | ID: mdl-39112955

ABSTRACT

Pseudo-Meigs syndrome is a rare syndrome characterized by hydrothorax and ascites associated with pelvic masses, and patients occasionally present with elevated serum cancer antigen-125 (CA125) levels. Hydropic leiomyoma (HLM) is an uncommon subtype of uterine leiomyoma characterized by hydropic degeneration and secondary cystic changes. Rapidly enlarging HLMs accompanied by hydrothorax, ascites, and elevated CA125 levels may be misdiagnosed as malignant tumors. Here, we report a case of HLM in a 45-year-old Chinese woman who presented with ascites and hydrothorax. Preoperative abdominopelvic CT revealed a giant solid mass in the fundus uteri measuring 20 × 15 × 12 cm. Her serum CA125 level was elevated to 247.7 U/ml, while her hydrothorax CA125 level was 304.60 U/ml. The patient was initially diagnosed with uterine malignancy and underwent total abdominal hysterectomy and adhesiolysis. Pathological examination confirmed the presence of a uterine hydropic leiomyoma with cystic changes. After tumor removal, the ascites and hydrothorax subsided quickly, with no evidence of recurrence. The patient's serum CA125 level decreased to 116.90 U/mL on Day 7 and 5.6 U/mL on Day 40 postsurgery. Follow-up data were obtained at 6 months, 1 year, and 2 years after surgery, and no recurrence of ascites or hydrothorax was observed. This case highlights the importance of accurate diagnosis and appropriate management of HLM to achieve successful outcomes.


Subject(s)
CA-125 Antigen , Leiomyoma , Meigs Syndrome , Ovarian Neoplasms , Uterine Neoplasms , Humans , Female , Leiomyoma/diagnosis , Leiomyoma/complications , Middle Aged , CA-125 Antigen/blood , Meigs Syndrome/diagnosis , Uterine Neoplasms/diagnosis , Uterine Neoplasms/complications , Uterine Neoplasms/pathology , Diagnosis, Differential , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/complications , Ovarian Neoplasms/pathology , Ovarian Neoplasms/blood , Ascites/etiology , Ascites/diagnosis , Hydrothorax/etiology , Hydrothorax/diagnosis , Hysterectomy , Membrane Proteins
7.
Am J Case Rep ; 25: e944365, 2024 Aug 23.
Article in English | MEDLINE | ID: mdl-39175175

ABSTRACT

BACKGROUND Perivascular epithelioid cell tumor (PEComa) is usually a benign perivascular tumor that expresses both melanocytic and myogenic cell markers. We report 2 cases of advanced malignant uterine perivascular epithelioid cell tumor (PEComa) in a 74-year-old woman and a 50-year-old woman undergoing surgery in our center. CASE REPORT Case 1: A 74-year-old woman presented with a painful and massive abdominal mass. The imaging revealed a 19-cm necrotic mass close to the mesentery, a suspicious lesion in the uterus, and a probable liver metastasis. The pathological diagnosis was quite difficult with mixed features of leiomyosarcoma and PEComa with an uncommon immunohistochemistry staining pattern. Therefore, we gave a diagnosis of sarcoma with PEComa-like features. Case 2: A 50-year-old woman with metrorrhagia and abdominal pain. Imaging revealed a 7-cm mass in the uterus and suspicious metastatic lesions in the lung and the liver. The immunohistochemistry pattern was typical, with a strong positivity of Human Melanoma Black-45 (HMB-45) and focal positivity of H-Caldesmon. The patient benefited from targeted adjuvant therapy (MTOR inhibitor-based), with 8-month a follow-up showing no recurrence for this Grade IV PEComa mutated for TP53, ATRX, and TSC1. CONCLUSIONS We have report 2 cases of metastatic PEComa with different clinicopathological features. An overlap remains between characteristics of PEComas and smooth-muscle tumors. At present, there are no known pathognomonic findings or specific diagnostic markers.


Subject(s)
Perivascular Epithelioid Cell Neoplasms , Uterine Neoplasms , Humans , Female , Perivascular Epithelioid Cell Neoplasms/diagnosis , Perivascular Epithelioid Cell Neoplasms/secondary , Perivascular Epithelioid Cell Neoplasms/pathology , Uterine Neoplasms/diagnosis , Uterine Neoplasms/pathology , Middle Aged , Aged , Liver Neoplasms/secondary , Liver Neoplasms/diagnosis , Diagnosis, Differential , Lung Neoplasms/diagnosis , Lung Neoplasms/pathology , Lung Neoplasms/secondary
8.
Medicine (Baltimore) ; 103(33): e39123, 2024 Aug 16.
Article in English | MEDLINE | ID: mdl-39151492

ABSTRACT

RATIONALE: Uterine tumors resembling ovarian sex cord tumors (UTROSCT) with rhabdoid features are uncommon mesenchymal neoplasms exhibiting diverse histological patterns, including significant rhabdoid morphology. A thorough comprehension of their clinicopathologic features is crucial for precise diagnosis and effective management. PATIENT CONCERNS: This study presents 4 cases of UTROSCT with rhabdoid features, diagnosed in patients aged 31 to 58. Varied recurrence patterns were observed, including similar recurrent lesions to the primary tumors with subsequent mortality, initial invasion and lymph node metastasis, and presence of only primary tumor. DIAGNOSES: Histopathological examination revealed diverse morphological patterns, prominently featuring rhabdoid differentiation. Immunohistochemical analysis showed expression of hormone receptors, sex cord, smooth muscle, and epithelial markers, notably WT1, CD56, and CD99. Molecular analysis identified ESR1-NCOA2 fusions and ESR1 and NCOA2/3 rearrangements, indicating a potential association between these genetic alterations and extensive rhabdoid differentiation. INTERVENTIONS: Various treatments were administered post-recurrence, including chemotherapy and targeted therapies. However, poor clinical outcomes were observed in all cases. OUTCOMES: Despite aggressive treatments, including chemotherapy and targeted therapies, poor clinical outcomes were observed, highlighting the aggressive nature of UTROSCT with significant rhabdoid differentiation. LESSONS: This case series emphasizes the importance of detailed pathological reporting, comprehensive molecular testing, and thorough tumor staging in UTROSCT cases with rhabdoid features. Enhanced understanding of the clinicopathologic characteristics of UTROSCT with rhabdoid differentiation is crucial for accurate diagnosis, prognostication, and management strategies.


Subject(s)
Ovarian Neoplasms , Sex Cord-Gonadal Stromal Tumors , Uterine Neoplasms , Humans , Female , Adult , Sex Cord-Gonadal Stromal Tumors/pathology , Sex Cord-Gonadal Stromal Tumors/genetics , Sex Cord-Gonadal Stromal Tumors/diagnosis , Middle Aged , Uterine Neoplasms/pathology , Uterine Neoplasms/genetics , Uterine Neoplasms/diagnosis , Ovarian Neoplasms/pathology , Ovarian Neoplasms/genetics , Ovarian Neoplasms/diagnosis , Diagnosis, Differential , Estrogen Receptor alpha/genetics , Estrogen Receptor alpha/metabolism , Rhabdoid Tumor/genetics , Rhabdoid Tumor/diagnosis , Rhabdoid Tumor/pathology , Nuclear Receptor Coactivator 2/genetics , CD56 Antigen/metabolism , Neoplasm Recurrence, Local/genetics , Neoplasm Recurrence, Local/pathology , Biomarkers, Tumor/genetics , 12E7 Antigen/genetics , 12E7 Antigen/metabolism , WT1 Proteins/genetics
9.
BMC Pulm Med ; 24(1): 376, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39090648

ABSTRACT

Pulmonary benign metastasizing leiomyoma is an uncommon condition, predominantly affecting women of childbearing age with a history of uterine smooth muscle tumors and uterine leiomyoma surgery for uterine leiomyoma. The progression of PBML is often unpredictable and depends on the extent of lung involvement. Generally, most patients remain asymptomatic, but a minority may experience coughing, wheezing, or shortness of breath, which are frequently misdiagnosed as pneumonia. consequently, this presents significant challenges in both treatment and nursing care before diagnosis. This paper reports the case of a 35-year-old woman primarily diagnosed with acute hypoxic respiratory failure who was transferred from the emergency room to the intensive care unit. The initial computed tomography scan of the patient's lungs indicated diffuse interstitial pneumonia, but the sequencing of the alveolar lavage fluid pathogen macro did not detect any bacteria, fungi, or viruses. Moreover, the patient remained in a persistent hypoxic state before the definitive diagnosis. Therefore, our focus was on maintaining the airway patency of the patient, using prone ventilation, inhaling nitric oxide, monitoring electrical impedance tomography, and preventing ventilator-associated pneumonia to improve oxygenation, while awaiting immunohistochemical staining of the patient's biopsied lung tissue. This would help us clarify the diagnosis and treat it based on etiology. After meticulous treatment and nursing care, the patient was weaned off the ventilator after 26 days and transferred to the respiratory ward after 40 days. This case study may serve as a reference for clinical practice and assist patients suffering from PBML.


Subject(s)
Leiomyoma , Lung Neoplasms , Respiratory Insufficiency , Uterine Neoplasms , Humans , Female , Adult , Leiomyoma/pathology , Leiomyoma/complications , Leiomyoma/diagnosis , Respiratory Insufficiency/etiology , Lung Neoplasms/secondary , Lung Neoplasms/complications , Lung Neoplasms/pathology , Uterine Neoplasms/pathology , Uterine Neoplasms/complications , Uterine Neoplasms/diagnosis , Tomography, X-Ray Computed , Hypoxia/etiology , Diagnosis, Differential
10.
Appl Immunohistochem Mol Morphol ; 32(7): 326-335, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-38961542

ABSTRACT

Uterine spindle cell lesions share a dilemmatic overlapped features that needed to be addressed by the pathologist to reach a conclusive accurate diagnosis for its prognostic value and different management decisions. Usage of combined IHC panel can be an aiding guiding tool in this context. The aim of this study is to evaluate the diagnostic value of combined BCOR, Cyclin D1, and CD10 IHC panel in differentiating endometrial stromal sarcoma from other uterine spindle cell lesions. This study included 60 cases categorized into endometrial stromal sarcoma group (ESS) (12 cases high-grade endometrial stromal sarcoma [HGESS] and 18 cases low-grade endometrial stromal sarcoma [LGESS]), malignant uterine spindle cell lesions group (5 cases adenosarcoma [AS], 6 cases leiomyosarcoma [LS], 4 cases carcinosarcoma [CS]), and benign uterine lesions group (5 cases endometrial stromal nodule [ESN], 5 cases leiomyoma, and 5 cases adenomyosis). IHC staining procedure and evaluation for BCOR, Cyclin D1, and CD10 was performed on all studied cases. BCOR IHC staining was positive in all HGESS (12/12) of ESS group cases, with diffuse pattern in 75% of cases. BCOR-diffuse staining pattern was not recorded in any of LGESS (0/18), malignant mesenchymal lesions group (0/15), and also benign lesions group (0/15). Cyclin D1 positivity was observed only in HGESS cases, in parallel with positive-BCOR expression. On the contrary, CD10 was negatively expressed in all HGESS and positive in all LGESS, ESN, and adenomyosis cases. A specificity of 100% and sensitivity of 75% were recorded in differentiating HGESS from malignant mesenchymal lesions (including LMS, AS, and CS) and also HGESS from LGESS when using the combined panel BCOR +ve D /Cyclin D1 +ve / CD10 -ve , considering only the BCOR-diffuse staining pattern. In conclusion, BCOR +ve D /Cyclin D1 +ve /CD10 -ve as a combined panel is 100% specific and with lesser sensitivity in diagnosing HGESS as well as differentiating it from LGESS and other malignant uterine spindle cell lesions.


Subject(s)
Cyclin D1 , Neprilysin , Proto-Oncogene Proteins , Repressor Proteins , Sarcoma, Endometrial Stromal , Humans , Female , Neprilysin/metabolism , Sarcoma, Endometrial Stromal/diagnosis , Sarcoma, Endometrial Stromal/metabolism , Sarcoma, Endometrial Stromal/pathology , Repressor Proteins/metabolism , Cyclin D1/metabolism , Diagnosis, Differential , Middle Aged , Adult , Proto-Oncogene Proteins/metabolism , Endometrial Neoplasms/diagnosis , Endometrial Neoplasms/metabolism , Endometrial Neoplasms/pathology , Immunohistochemistry , Biomarkers, Tumor/metabolism , Aged , Uterine Neoplasms/diagnosis , Uterine Neoplasms/metabolism , Uterine Neoplasms/pathology
11.
Medicine (Baltimore) ; 103(27): e38824, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38968462

ABSTRACT

To investigate the clinicopathological features, diagnosis, surgical treatment and prognosis of uterine tumors similar to ovarian sex cord tumors (UTROSCT). The clinical data, surgical approach, histopathological, and immunohistochemical features of 7 cases of UTROSCTs were retrospectively reviewed and followed up. All 4 patients were premenopausal women. The most common clinical presentation was menorrhagia (n = 4) followed by postmenopausal lower abdominal mass (n = 2) and postmenopausal bleeding (n = 1). Gynecological ultrasonography suggested uterine fibroids in 4 cases, adenomyosis with uterine fibroids in 2 cases, and an intrauterine mass in 1 case. Pelvic MRI was performed preoperatively in only 2 cases, and both indicated uterine fibroid degeneration, including 1 patient with suspected malignancy. Preoperative serum tumor markers were measured in 6 patients, and only 1 patient had elevated CA125 levels, up to 158 U/mL. Total hysterectomy with bilateral adnexectomy or salpingectomy was the most common treatment pattern (n = 6). The tumors were located within the myometrium (n = 4), submucosa (n = 1), and isthmus to external cervical os (n = 1), with a range of 2 to 12 (mean = 8) cm. Edema and degeneration were observed in 2 cases, and necrosis in 1 case. Postoperative follow-up ranged from 31 to 82 (mean = 43) months. Unfortunately, 1 patient died at 54 months of follow-up without undergoing hysterectomy. The remaining 6 cases showed no tumor recurrence or metastasis after surgery. Histological examination revealed a tumor composed of epithelioid tumor-like cells arranged in cords, trabeculae, and nests. All 7 tumors showed expression of 2 sex cord differentiation markers. Furthermore, all tumors expressed the smooth muscle marker, while epithelial marker CK (4/7). endometrial stromal marker CD10(0/7). The Ki-67 proliferation index was found to be <5% (5/7). The option of total hysterectomy may be considered for women who do not have any fertility requirements. However, for young women who desire to maintain their reproductive capacity, surgery to preserve the uterus may be an alternative, although it necessitates careful postoperative monitoring. In terms of follow-up monitoring, MRI is more suitable than ultrasound. The diagnosis of UTROSCT heavily relies on histopathological examination and immunohistochemical analysis.


Subject(s)
Ovarian Neoplasms , Sex Cord-Gonadal Stromal Tumors , Uterine Neoplasms , Humans , Female , Retrospective Studies , Sex Cord-Gonadal Stromal Tumors/surgery , Sex Cord-Gonadal Stromal Tumors/diagnosis , Sex Cord-Gonadal Stromal Tumors/pathology , Adult , Middle Aged , Uterine Neoplasms/surgery , Uterine Neoplasms/pathology , Uterine Neoplasms/diagnosis , Ovarian Neoplasms/pathology , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/surgery , Diagnosis, Differential , Hysterectomy , Biomarkers, Tumor/blood , Biomarkers, Tumor/analysis , CA-125 Antigen/blood
12.
Medicine (Baltimore) ; 103(28): e38800, 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-38996113

ABSTRACT

RATIONALE: Uterine carcinosarcoma (UCS) is a rare and highly invasive malignant tumor.It exhibits an ectopic growth pattern of the uterus,and its histological features are biphasic differentiation of malignant epithelial components (cancer) and malignant mesenchymal components (sarcoma). The pathological pattern of high-component neuroendocrine differentiation is extremely rare. Due to the inherent heterogeneity of tumors, it increases the difficulty of accurate identification and diagnosis. The author introduces a rare case of primary endometrial carcinosarcoma (heterologous) with small cell neuroendocrine carcinoma (SCNEC) components. There is limited literature on this rare pathological differentiation pattern and a lack of guidelines for the best treatment methods, which prompts reflection on the diagnosis, optimal treatment strategies, and how preoperative diagnosis can affect patient prognosis for endometrial carcinosarcoma with neuroendocrine differentiation. PATIENT CONCERNS: The patient is an elderly woman who presents with abnormal vaginal bleeding after menopause. Transvaginal ultrasound examination shows that the uterus is slightly enlarged, and there is a lack of homogeneous echogenicity in the uterine cavity. Subsequently, a hysteroscopic curettage was performed, and a space-occupying lesion was observed on the anterior wall of the uterine cavity. DIAGNOSES: Preoperative endometrial biopsy revealed SCNEC of the endometrium. The patient underwent radical hysterectomy, and the postoperative pathological results showed that UCS (heterologous) was accompanied by SCNEC components (about 80%). INTERVENTION: The patient received radical hysterectomy, followed by adjuvant chemotherapy. OUTCOME: After 7 months of follow-up, no tumor recurrence or metastasis was found at the time of writing this article. LESSONS: The histological type of UCS (heterologous) with cell neuroendocrine carcinoma components is rare and highly invasive, with a high misdiagnosis rate in preoperative biopsy. There are currently no effective treatment guidelines for this type of case. The unusual appearance of SCNEC components in this case poses a challenge for both pathologists and surgeon. The rare differentiation pattern of this case exposes the complexity of its management and the necessity of prospective trials to determine the optimal treatment plan.


Subject(s)
Carcinosarcoma , Uterine Neoplasms , Humans , Female , Carcinosarcoma/diagnosis , Carcinosarcoma/pathology , Carcinosarcoma/therapy , Carcinosarcoma/surgery , Uterine Neoplasms/pathology , Uterine Neoplasms/diagnosis , Uterine Neoplasms/surgery , Carcinoma, Neuroendocrine/pathology , Carcinoma, Neuroendocrine/diagnosis , Carcinoma, Neuroendocrine/surgery , Aged , Hysterectomy/methods , Endometrial Neoplasms/pathology , Endometrial Neoplasms/diagnosis , Endometrial Neoplasms/therapy
13.
Cells ; 13(13)2024 Jun 26.
Article in English | MEDLINE | ID: mdl-38994959

ABSTRACT

Uterine leiomyosarcoma (uLMS) is the most common subtype of uterine sarcomas. They have a poor prognosis with high rates of recurrence and metastasis. The five-year survival for uLMS patients is between 25 and 76%, with survival rates approaching 10-15% for patients with metastatic disease at the initial diagnosis. Accumulating evidence suggests that several biological pathways are involved in uLMS pathogenesis. Notably, drugs that block abnormal functions of these pathways remarkably improve survival in uLMS patients. However, due to chemotherapy resistance, there remains a need for novel drugs that can target these pathways effectively. In this review article, we provide an overview of the recent progress in ascertaining the biological functions and regulatory mechanisms in uLMS from the perspective of aberrant biological pathways, including DNA repair, immune checkpoint blockade, protein kinase and intracellular signaling pathways, and the hedgehog pathway. We review the emerging role of epigenetics and epitranscriptome in the pathogenesis of uLMS. In addition, we discuss serum markers, artificial intelligence (AI) combined with machine learning, shear wave elastography, current management and medical treatment options, and ongoing clinical trials for patients with uLMS. Comprehensive, integrated, and deeper insights into the pathobiology and underlying molecular mechanisms of uLMS will help develop novel strategies to treat patients with this aggressive tumor.


Subject(s)
Leiomyosarcoma , Uterine Neoplasms , Humans , Leiomyosarcoma/diagnosis , Leiomyosarcoma/pathology , Leiomyosarcoma/therapy , Leiomyosarcoma/drug therapy , Leiomyosarcoma/genetics , Female , Uterine Neoplasms/diagnosis , Uterine Neoplasms/drug therapy , Uterine Neoplasms/pathology , Uterine Neoplasms/genetics , Uterine Neoplasms/therapy , Prognosis , Molecular Targeted Therapy , Biomarkers, Tumor/metabolism
14.
Vet Med Sci ; 10(4): e1520, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38979745

ABSTRACT

An 11-year-old female cinnamon cockatiel (Nymphicus hollandicus) was presented with a coelomic distention. Dystocia was suspected, given its previous history of a calcium-deficient diet and multiple instances of nonobstructive dystocia. Exploratory coeliotomy revealed a large intraluminal mass extending through the magnum to the uterus (shell gland). Metastasis and multiorgan involvement were not seen. Histopathologically, malignant and invasive fascicles of spindle cells were associated with abundant myxoid matrix and hypocellular areas. Multinucleation, bizarre cells and atypical mitotic figures were prominent. Masson's trichrome staining verified the muscular origin, and the myxoid matrix was demonstrated utilizing Alcian blue. The neoplastic cells exhibited alpha-smooth muscle actin and desmin immunoreactivity and were negative for vimentin. Thus, the patient was diagnosed with oviductal and uterine myxoid leiomyosarcoma (LMS). The patient survived 34 days post-surgery before death associated with suspected enteritis. Myxoid LMS is an extremely rare neoplasm in animals. To our knowledge, myxoid LMS has not been reported previously in pet birds.


Subject(s)
Bird Diseases , Cockatoos , Leiomyosarcoma , Oviducts , Uterine Neoplasms , Female , Animals , Leiomyosarcoma/veterinary , Leiomyosarcoma/pathology , Leiomyosarcoma/surgery , Uterine Neoplasms/veterinary , Uterine Neoplasms/pathology , Uterine Neoplasms/surgery , Uterine Neoplasms/diagnosis , Bird Diseases/pathology , Bird Diseases/surgery , Bird Diseases/diagnosis , Oviducts/pathology , Fatal Outcome
15.
J Med Case Rep ; 18(1): 323, 2024 Jul 15.
Article in English | MEDLINE | ID: mdl-39004746

ABSTRACT

BACKGROUND: Diagnosing non-gestational uterine choriocarcinoma in children is challenging because of its rarity and nonspecific imaging findings. Herein, we report a case of non-gestational uterine choriocarcinoma in a child, which was unexpectedly found during exploratory laparotomy and confirmed by histopathological findings. However, the tumor did not respond to chemotherapy. CASE PRESENTATION: A 4-year-old Indonesian female patient was brought into the emergency unit with chief complaint of vaginal bleeding. She had suffered from vaginal spotting 4 months before being admitted to the hospital. Physical examination revealed a distended abdomen in the left lumbar region and a palpable fixed mass with a smooth surface. Abdominal computed tomography scans revealed a large mass (10 × 6 × 12 cm) with fluid density and calcification. Thus, we suspected left ovarian teratoma. The patient's luteinizing hormone, follicle-stimulating hormone, and lactate dehydrogenase levels were 25.2 mIU/ml, 0.1 mIU/ml, and 406 U/l, respectively. According to the clinical and radiological findings, we decided to perform an exploratory laparotomy and found a tumor originating from the uterus, not the ovarium. We did not observe liver nodules and any enlargement of abdominal lymph nodes. Subsequently, we performed hysterectomy. The histopathological findings supported the diagnosis of choriocarcinoma. The patient was discharged uneventfully on postoperative day 5. Thereafter, the patient underwent nine cycles of chemotherapy, including carboplatin (600 mg/m2 IV), etoposide (120 mg/m2 IV), and bleomycin (15 mg/m2 IV). However, on the basis of the clinical findings of a palpable mass and partial intestinal obstruction, the tumor relapsed soon after the ninth cycle of chemotherapy. Currently, the patient is undergoing chemotherapy again. CONCLUSIONS: Although pure non-gestational uterine choriocarcinoma is rare, it should be considered as one of the differential diagnoses for intraabdominal tumors in a child, so as to better guide and counsel families regarding the surgical plan and prognosis, respectively. In the present case, the patient's response to chemotherapy was poor, implying that the treatment of non-gestational choriocarcinoma is still challenging, particularly in the pediatric population.


Subject(s)
Choriocarcinoma, Non-gestational , Hysterectomy , Uterine Neoplasms , Humans , Female , Uterine Neoplasms/diagnosis , Uterine Neoplasms/surgery , Uterine Neoplasms/pathology , Uterine Neoplasms/drug therapy , Uterine Neoplasms/therapy , Child, Preschool , Choriocarcinoma, Non-gestational/diagnosis , Choriocarcinoma, Non-gestational/pathology , Choriocarcinoma, Non-gestational/drug therapy , Choriocarcinoma, Non-gestational/therapy , Tomography, X-Ray Computed , Diagnosis, Differential , Laparotomy , Uterine Hemorrhage/etiology , Etoposide/therapeutic use , Etoposide/administration & dosage
16.
J Med Case Rep ; 18(1): 325, 2024 Jul 16.
Article in English | MEDLINE | ID: mdl-39010207

ABSTRACT

BACKGROUND: Lymphoid neoplasm is a common disease, arising from lymphoid cells. It is divided into Hodgkin lymphoma and non-Hodgkin lymphoma. Non-Hodgkin lymphoma can be intranodular or extranodular, which happens in 25% of primary cases. The most common locations of extranodular non-Hodgkin lymphoma are the skin and gastrointestinal tract. The genital tract is a rare location; most lymphomas arise from the cervix and vagina, while the uterine corpus is an extremely rare location. In our case, the patient was diagnosed with primary extranodular non-Hodgkin lymphoma in different locations of her genital tract. CASE PRESENTATION: A 48-year-old nonparous Syrian woman complained of diffuse abdominal pain, fatigue, debility, high fever, vomiting, and urinary retention for a week. The last menstrual period of the patient was 5 years previously. The physical examination showed periodic abdominal pain with severe fatigue and increased abdominal size. The laboratory investigations were within normal limits except for a low level of hemoglobin and a high level of cancer antigen 125. The radiological investigations showed a uterine sizable lobulated mass with irregular borders and high and heterogeneous density, extending to the right and left ovaries, enlargement lymph nodes around the abdominal aortic and right iliac vessels, and severe right pleural effusion with right inferior lobe atelectasis. A total hysterectomy and oophorectomy were done. The histopathological examination showed that the patient had non-Hodgkin lymphoma (primary tumor). CONCLUSION: Primary non-Hodgkin lymphoma in the female genital tract is an extremely rare disease. Fast diagnosis and treatment can improve the outcomes, so this differential diagnosis should be in our minds even in the absence of systematic manifestations of lymphoma. More studies are needed to explain the pathology of this disease and to put guidelines that determine the perfect methods for diagnosis and treatment.


Subject(s)
Lymphoma, Large B-Cell, Diffuse , Uterine Neoplasms , Humans , Female , Middle Aged , Lymphoma, Large B-Cell, Diffuse/complications , Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, Large B-Cell, Diffuse/diagnosis , Uterine Neoplasms/complications , Uterine Neoplasms/pathology , Uterine Neoplasms/surgery , Uterine Neoplasms/diagnosis , Hysterectomy , Abdominal Pain/etiology , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Tomography, X-Ray Computed
18.
J Int Med Res ; 52(6): 3000605241255810, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38886867

ABSTRACT

Pelvic masses frequently originate from the pelvic cavity and are often associated with uterine, ovarian, or intestinal disorders. This report describes the case of a patient with a pelvic mass diagnosed as a retroperitoneal dermoid cyst at our hospital. We analyzed this case and conducted a literature review, to mitigate the risk of misdiagnosis and enhance the treatment of retroperitoneal masses.


Subject(s)
Adenomyoma , Dermoid Cyst , Retroperitoneal Neoplasms , Uterine Neoplasms , Humans , Female , Dermoid Cyst/surgery , Dermoid Cyst/complications , Dermoid Cyst/diagnosis , Dermoid Cyst/pathology , Retroperitoneal Neoplasms/pathology , Retroperitoneal Neoplasms/complications , Retroperitoneal Neoplasms/diagnostic imaging , Retroperitoneal Neoplasms/diagnosis , Retroperitoneal Neoplasms/surgery , Uterine Neoplasms/pathology , Uterine Neoplasms/complications , Uterine Neoplasms/diagnosis , Uterine Neoplasms/surgery , Uterine Neoplasms/diagnostic imaging , Adenomyoma/pathology , Adenomyoma/surgery , Adenomyoma/complications , Adenomyoma/diagnosis , Adenomyoma/diagnostic imaging , Tomography, X-Ray Computed , Adult
19.
J Hematop ; 17(3): 149-153, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38878262

ABSTRACT

Chimeric antigen receptor T-cell (CAR-T) therapy is a recent advancement in precision medicine with promising results for patients with relapsed or refractory B-cell malignancies. However, rare post-therapy morphologic, immunophenotypic, and genomic alterations can occur. This study is to present a case of a patient with diffuse large B-cell lymphoma (DLBCL) who underwent anti-CD19 CAR-T therapy with disease in the uterus that showed transdifferentiation to a poorly differentiated malignant neoplasm that failed to express any lineage specific markers. In immunohistochemistry, fluorescence in situ hybridization (FISH) and targeted next-generation sequencing (NGS) were utilized to fully characterize the diagnostic DLBCL sample in comparison to the poorly differentiated neoplasm of the uterus. Analysis of the diagnostic DLBCL and the poorly differentiated neoplasm demonstrated evidence of a clonal relationship as well as revealing acquisition of mutations associated with CAR-T resistance. Furthermore, downregulation of B-cell associated antigens was observed, underscoring a mechanistic link to CAR-T evasion as well as demonstrating diagnostic confusion. This case illustrates the utility of employing multiple diagnostic modalities in elucidating a pathologic link between a B-cell lymphoma and poorly differentiated neoplasm following targeted therapy.


Subject(s)
Cell Transdifferentiation , Immunotherapy, Adoptive , Lymphoma, Large B-Cell, Diffuse , Humans , Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, Large B-Cell, Diffuse/immunology , Lymphoma, Large B-Cell, Diffuse/therapy , Lymphoma, Large B-Cell, Diffuse/genetics , Female , Immunotherapy, Adoptive/methods , Middle Aged , Receptors, Chimeric Antigen/immunology , Receptors, Chimeric Antigen/genetics , Uterine Neoplasms/pathology , Uterine Neoplasms/therapy , Uterine Neoplasms/genetics , Uterine Neoplasms/diagnosis
20.
J Int Med Res ; 52(6): 3000605241258572, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38869107

ABSTRACT

We herein report a rare case of simultaneous intrauterine molar pregnancy and tubal pregnancy. A woman of childbearing age who had never been pregnant underwent an ultrasound examination 70 days after the onset of menopause. She had a history of ovulation induction. The ultrasound findings suggested a partial hydatidiform mole. She was then pathologically confirmed to have a complete hydatidiform mole after uterine suction dilation and curettage. On postoperative day 4, an ultrasound examination before discharge showed an inhomogeneous mass in the left adnexal region with mild lower abdominal pain. On postoperative day 17, the blood human chorionic gonadotropin level did not drop as expected, and a follow-up examination still indicated a mass in the left adnexal region. We were unable to rule out an ectopic hydatidiform mole. Hysteroscopy with laparoscopic exploration of the left adnexal mass and salpingotomy suggested a diagnosis of intrauterine hydatidiform mole combined with left tubal pregnancy.


Subject(s)
Hydatidiform Mole , Pregnancy, Tubal , Humans , Female , Pregnancy , Hydatidiform Mole/surgery , Hydatidiform Mole/diagnosis , Hydatidiform Mole/diagnostic imaging , Hydatidiform Mole/pathology , Pregnancy, Tubal/surgery , Pregnancy, Tubal/diagnosis , Pregnancy, Tubal/diagnostic imaging , Pregnancy, Tubal/blood , Adult , Uterine Neoplasms/surgery , Uterine Neoplasms/diagnosis , Uterine Neoplasms/diagnostic imaging , Uterine Neoplasms/pathology , Pregnancy, Heterotopic/surgery , Pregnancy, Heterotopic/diagnosis , Pregnancy, Heterotopic/diagnostic imaging , Ultrasonography
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