extragonadal

性外
  • 文章类型: Case Reports
    位于子宫内的恶性生殖细胞肿瘤(MGCT)在青春期前女孩中很少见。它们通常发生在绝经后妇女中,其特征是存在盆腔肿块和经阴道出血。在这种情况下,作者描述了临床特征,放射学发现,组织病理学描述,由患有子宫壁原发性卵黄囊瘤的婴儿接受治疗。目前,子宫GCTs的治疗基于GCTs指南。手术和博来霉素,依托泊苷,顺铂(pBEP)化疗对子宫卵黄囊瘤有效。经过46个月的临床随访,其中包括腹盆腔超声和肿瘤标志物评估,我们的病人没有疾病,暗示一个有利的结果。
    Malignant germ cell tumors (MGCTs) localized in the uterus are rare in prepubertal girls. They typically occur in postmenopausal women and are characterized by the presence of a pelvic mass and transvaginal bleeding. In this case, the authors describe the clinical features, radiologic findings, histopathologic description, and treatment received by an infant with a primary yolk sac tumor of the uterine wall. Currently, treatment for uterine GCTs is based on guidelines for GCTs. Surgery and bleomycin, etoposide, cisplatin (pBEP) chemotherapy are effective for uterine yolk sac tumors. After 46 months of clinical follow-up, which included abdominopelvic ultrasound and tumor marker assessments, our patient is free of disease, suggesting a favorable outcome.
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  • 文章类型: Case Reports
    Choriocarcinoma is a highly aggressive malignant tumor that occurs due to the formation of an abnormal trophoblast. Choriocarcinoma is classified into gestational (GC) and nongestational (NGC) subtypes. The majority of nongestational diseases are limited to ovaries. Extragonadal NGC is a sporadic occurrence and a diagnostic and therapeutic dilemma. Here, we present a young 24-year-old female who presented with a widespread metastatic disease to the brain, bilateral kidneys, lungs, liver, pancreas, and small bowel. She was diagnosed with extragonadal NGC, probably originating from her kidneys. She responded poorly to standard first-, second-, and third-line chemotherapies. Detailed literature analysis with various aspects of pathogenesis, diagnostic criteria, clinical presentation, and treatment options are discussed. There is an unmet need for further research and consensus on many aspects of this rare disease.
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  • 文章类型: Case Reports
    性腺外生殖细胞肿瘤(GCTs)是一组罕见的肿瘤,占所有GCTs的1%-5%。这些肿瘤可以表现出不可预测的行为和临床表现,取决于不同的因素,如组织学亚型,解剖部位,和临床分期。我们报告了一例43岁的男性患者,其原始性腺外精原细胞瘤位于椎旁背侧区域,一个极其罕见的地方。他到我们的急诊科就诊,有3个月的背痛史和1周的不明原因发热史。成像技术揭示了由D9-D11的椎体产生并在椎旁间隙中延伸的实体组织。骨髓活检和睾丸精原细胞瘤排除后,他被诊断出患有原始性腺外精原细胞瘤。患者接受了五个周期的化疗,随后的CT检查显示肿块最初减少,直到完全缓解,没有复发的证据。
    Extragonadal germ cell tumors (GCTs) are a rare group of neoplasms that account for 1%-5% of all GCTs. These tumors can present with an unpredictable behavior and clinical manifestations depending on different factors such as histological subtype, anatomical site, and clinical stage. We report the case of a 43-year-old male patient with a primitive extragonadal seminoma located in the paravertebral dorsal region, an extremely rare site. He presented to our emergency department with a 3-month history of back pain and a 1-week history of fever of unknown origin. Imaging techniques revealed a solid tissue arising from the vertebral bodies of D9-D11 and extending in the paravertebral space. After a bone marrow biopsy and exclusion of testicular seminoma, he was diagnosed with primitive extragonadal seminoma. The patient underwent five cycles of chemotherapy, and the follow-up CT examinations showed a reduction of the mass initially till a complete remission with no evidence of recurrence.
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  • 文章类型: Case Reports
    背景:起源于肩的性腺外生殖细胞肿瘤(EGGCT)极为罕见,文献中描述了1例。我们报告了一例原发性右肩混合EGGCT患者。
    方法:一名36岁男性患者因进行性右肩肿胀伴疼痛住院6个月。随后,右肩肿瘤被完全切除。大体病理检查显示肿瘤大小约为14×10×6cm。在ENPEP(4q25)中观察到突变,ZCCHC11,RREB1(6p24.3),CKAP4(12q23.3),和其他基因通过全外显子组测序检测。组织学显示右肩混合EGGCT,未成熟畸胎瘤和卵黄囊瘤。患者经历了6个周期的化疗。经过7个月的随访,患者复发。
    结论:肩关节原发性MEGCT是一种极为罕见的疾病。然而,复发率和转移率高。因此,进一步的研究是必要的,以确定这种罕见疾病的遗传和临床特征,以制定有效的治疗方案。
    BACKGROUND: Extragonadal germ cell tumours (EGGCTs) originated in Shoulder are extremely rare, with 1 case described in the literature. We report a case of a patient with a primary Right Shoulder mixed EGGCT.
    METHODS: A 36-year-old male patient was hospitalized for 6 months due to progressive right shoulder swelling accompanied by pain. Subsequently, the right shoulder tumor was removed entirely. Gross pathological examination showed that the size of the tumor mass was about 14 × 10 × 6 cm.Mutations were observed in ENPEP (4q25), ZCCHC11, RREB1 (6p24.3), CKAP4 (12q23.3), and other genes were detected by whole exome sequencing. Histology revealed a mixed EGGCT of the Right Shoulder with immature teratoma and yolk sac tumour. The patient went through 6 cycles of chemotherapy. After 7 months of follow-up, the patient is recurrence.
    CONCLUSIONS: The primary MEGCT of the shoulder is an extremely rare condition. However, the recurrence and metastasis rates are high. Therefore, further research is necessary to determine this rare disease\'s genetic and clinical characteristics to develop an effective treatment plan.
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  • 文章类型: Case Reports
    一个8个月大的孩子,完整的男性,自动物出生以来,发现了家养的短毛猫在尾巴的腹部近端有一个肿块,由于存在有成排的异位牙齿的线性裂缝,兽医怀疑肿块最近破裂了。选择了截肢手术,并通过手术成功切除了整个肿块。从粗略检查来看,这个肿块有一个开放的囊肿样结构,有一个由头发组成的突出区域,牙齿,还有骨头.组织病理学揭示了包括毛囊在内的生发层的两种成分,附件组织,神经组织,牙齿,肌肉,脂肪,骨头,和淋巴管.组织病理学诊断与成熟畸胎瘤一致。虽然,完全切除无法在组织学上明确确认,这只小猫目前情况良好,术后2年后,在手术部位没有出现任何复发性肿块。
    An 8-month-old, intact male, domestic shorthair cat was referred for a mass on the proximal ventral part of the tail which had been found since the animal was born, and due to the presence of a linear fissure with rows of ectopic teeth, the veterinarian suspected that the mass had recently ruptured. Tail amputation was elected and the entire mass was successfully surgically excised. From the gross examination, this mass had an open cyst-like structure with a prominent area composed of hair, teeth, and bone. Histopathology revealed two components of germinal layers including hair follicles, adnexal tissue, neural tissue, teeth, muscle, fat, bone, and lymphatic vessels. The histopathological diagnosis was consistent to mature teratoma. Although, complete excision could not be definitively confirmed histologically, this kitten is currently well and has not developed any recurrent mass at the surgical site after 2 years of post-operation.
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  • 文章类型: Case Reports
    背景:混合生殖细胞肿瘤是不常见的肿瘤,包含两种或更多种类型的恶性肿瘤,原始的,或生殖细胞成分。本研究旨在报道一例罕见的骶尾部性腺外混合生殖细胞肿瘤。
    方法:一名4岁女性出现下背部肿胀两周。它与疼痛和发烧有关。调查显示甲胎蛋白升高,β-HCG水平正常。磁共振成像显示在下尾骨区域的中线有一个大的清晰的异质团块,在没有侵入的情况下向前移位直肠。对肿块进行手术解剖并切除尾骨。之后,患者被转诊至肿瘤中心接受化疗.
    结论:性腺外生殖细胞肿瘤的出现可能是由于原始生殖细胞沿着泌尿生殖脊迁移的破坏所致,然后由于其微环境而发生恶性转化。另一种观点指出,当在胚胎发生过程中常规迁移到性腺外区域的生殖细胞发生恶性转化时,就会发生性腺外生殖细胞肿瘤。
    BACKGROUND: Mixed germ cell tumors are uncommon tumors that contain two or more types of malignant, primitive, or germ cell components. This study aims to report a rare case of extragonadal mixed germ cell tumor of the sacrococcygeal area.
    METHODS: A 4-year-old female presented with lower back swelling for two weeks. It was associated with pain and fever. Investigations showed elevated Alpha-fetoprotein and normal beta HCG levels. Magnetic resonance imaging showed a large well defined heterogeneous mass at the midline of the lower coccygeal region, which displaced the rectum anteriorly without invasion. Surgical dissection of the mass with excision of the coccyx was performed. Afterward, the patient was referred to an oncology center for chemotherapy.
    CONCLUSIONS: The emergence of extragonadal germ cell tumors may be caused by a disruption in the migration of primordial germ cells along the urogenital ridge, which then undergo a malignant transformation as a consequence of their microenvironment. Another idea states that extragonadal germ cell tumors occur when germ cells that routinely migrate into the extragonadal region during embryogenesis undergo malignant transformation.
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  • 文章类型: Case Reports
    背景:发生在子宫内的性腺外卵黄囊瘤(YSTs)极为罕见。报告1例青春期前女孩的子宫YST病例,并复习有关子宫YST的文献,概述诊断和治疗的临床处理。
    方法:我们介绍一例2岁女孩阴道出血和盆腔包块。经活检确诊为YST。新辅助化疗联合顺铂四个周期后,依托泊苷,和博来霉素(PEB),阴道镜检查和腹腔镜检查显示子宫YST无转移。患者术后接受腹腔镜子宫切除术和两个PEB周期的治疗。在18个月的随访中,患者保持无病。
    结论:原发性子宫YST极为罕见,迄今为止尚未建立治疗指南。手术联合PEB化疗被认为对子宫YST有效。
    BACKGROUND: Extragonadal yolk sac tumors (YSTs) occurring in the uterus are extremely rare. To report a uterine YST case in a prepubertal girl and review literature on uterine YST to outline clinical management in diagnosis and treatment.
    METHODS: We present a case of a 2-year-old girl who presented with vaginal bleeding and a pelvic mass. The diagnosis of YST was confirmed via biopsy. After four cycles of neoadjuvant chemotherapy combined with cisplatin, etoposide, and bleomycin (PEB), vaginoscopic examination and laparoscopy revealed a uterine YST without metastasis. The patient was treated with laparoscopic hysterectomy and two cycles of PEB postoperatively. During the 18 months of follow-up, the patient remained disease-free.
    CONCLUSIONS: Primary uterine YST is extremely rare and no treatment guidelines have been established to date. Surgery combined with PEB chemotherapy is considered effective for uterine YST.
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  • 文章类型: Journal Article
    BACKGROUND: Duodenal teratoma is a rare condition with only four cases reported in the English literature. Radiological imaging and tissue sample are necessary for diagnosis in addition to tumor markers. The most effective treatment is still complete excision with safety margins.
    METHODS: We report a case of 26 years-old-man, in whom epigastric pain, decreased appetite, and postprandial bilious vomiting had been prevalent for 5-6 months and had exacerbated prior to the emergency room. Enhanced abdominal computed tomography revealed a 10 × 15cm heterogeneous solid mass with cystic component in the third duodenum segment. The inferior veina cava and aorta were both compressed, although there was no sign of lymphadenopathy or ascites. An ulcerating non-bleeding lesion at the D2-D3 junction of the duodenum was discovered during a gastroduodenoscopy. Biopsies and immunohistochemical investigations revealed findings that were consistent with a mixed non-seminomatous germ cell tumor. A PET-CT scan was performed, which revealed FDG uptake by the duodenal lesion but no evidence of metastatic lesions. A distal duodenal segmentectomy is performed, and then a duodeno-jejunal anastomosis is used to restore continuity. The final diagnosis was teratomatous tumor of the duodenum without malignant changes.
    CONCLUSIONS: This is the second adult case of main duodenal teratoma that has been reported. We publish it to encourage surgeons to think about this differential diagnosis and carefully plan surgery using a multidisciplinary approach.
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  • 文章类型: Journal Article
    性腺外生殖细胞肿瘤在成人中并不常见,只有2-5%的畸胎瘤发生在性腺外部位。原发性甲状腺畸胎瘤占所有原发性甲状腺肿瘤的<0.1%。在本报告中,描述了一例65岁女性的原发性甲状腺畸胎瘤。此外,本研究系统回顾了目前有关诊断为原发性甲状腺畸胎瘤并接受手术切除的患者的文献.共15项研究,共27例患者(年龄范围,17-65岁)。肿块增大或颈部肿胀是14例患者(51.8%)的主要症状。只有一名(5.5%)患者术前诊断为恶性甲状腺畸胎瘤。所有患者均接受甲状腺切除术,但是6例手术更先进,包括淋巴结清扫.共有12例患者在术后接受联合辅助放化疗,10例(45.4%)患者报告疾病复发,8例(29.6%)术后诊断为远处转移。共有9例(39.1%)患者因疾病进展而死亡。总之,原发性甲状腺畸胎瘤很少见,术前难以诊断。特别是,恶性病例是非常侵袭性的肿瘤,预后相当差,即使在手术切除联合辅助放化疗后。
    Extragonadal germ cell tumors are uncommon in adults and only 2-5% of teratomas develop in extragonadal sites. Primary thyroid teratomas represent <0.1% of all primary thyroid gland neoplasms. In the present report, a case of primary thyroid teratoma in a 65-year-old female is described. Furthermore, the current literature regarding patients who were diagnosed with primary thyroid teratoma and underwent surgical resection was systematically reviewed. A total of 15 studies of 27 patients (age range, 17-65 years). Growing mass or neck swelling were the primary symptoms in 14 patients (51.8%). Only one (5.5%) patient was preoperatively diagnosed with malignant thyroid teratoma. All patients underwent thyroidectomy, but 6 cases had more advanced surgery, including lymph node dissection. A total of 12 patients received a combination of adjuvant chemoradiation postoperatively, 10 (45.4%) patients reported recurrence of disease and 8 (29.6%) were postoperatively diagnosed with distant metastases. A total of 9 (39.1%) patients died due to progression of the disease. In conclusion, primary thyroid teratomas are rare and difficult to diagnose preoperatively. In particular, malignant cases are very aggressive tumors with a considerably poor prognosis, even after surgical resection combined with adjuvant chemoradiation.
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  • 文章类型: Case Reports
    Yolk sac tumors (YSTs) of the endometrium and the broad ligament are very rare, with only 29 cases and one case of each other reported before in the English literature. Due to lack of standard guidelines, the treatment strategies of these diseases are controversial. Here, we share two cases of YSTs originating from the endometrium and the broad ligament respectively and review related literature. A 35-year-old woman was diagnosed with endometrial YST in our center and underwent surgery followed by chemotherapy with BEP (bleomycin, cisplatin and etoposide) regimen for six courses. After follow-up for 21 months, there is still no evidence of relapse. Another 36-year-old woman was admitted to our department with YST of the broad ligament. She was treated with surgery followed by chemotherapy with BEP regimen and was lost to follow-up after completing therapy. The case of endometrial YST we shared was similar to cases reported before, while the case with YST of the broad ligament we shared was the second case reported worldwide. Both of these two cases were treated with surgery combined with chemotherapy with BEP regimen.
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