A rare melanoma feature with primary ovarian origin: a case report and the literature review.
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ABSTRACT:
SUBMITTER: Paola A
PROVIDER: S-EPMC5854911 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:With fewer than 250 cases published worldwide, primary vaginal melanoma is an extremely rare malignant entity which is mostly diagnosed in advanced stages. The estimated incidence of vaginal melanoma is 0.026/100?000 women per year. The poor prognosis for advanced tumour stages and different therapies used in very limited numbers of patients require precise preoperative staging and a planned interdisciplinary therapeutic approach.
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Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
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Project description:Primary ovarian insufficiency (POI) is a clinical spectrum of ovarian dysfunction. Overt POI presents with oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. Overt POI involves chronic health problems to include increased morbidity and mortality related to estradiol deficiency and the associated osteoporosis and cardiovascular disease as well as psychological and psychiatric disorders related to the loss of reproductive hormones and infertility. Presently, with standard clinical testing, a mechanism for Overt POI can only be identified in about 10% of cases. Now discovery of new mechanisms permits an etiology to be identified in a research setting in 25-30% of overt cases. The most common genetic cause of Overt POI is premutation in FMR1. The associated infertility is life altering. Oocyte donation is effective, although many women prefer to conceive with their own ova. Surprisingly, the majority who have Overt POI still have detectable ovarian follicles (70%). The major mechanism of follicle dysfunction in Overt POI has been histologically defined by a prospective NIH study: inappropriate follicle luteinization due to the tonically elevated serum LH levels. A trial of physiologic hormone replacement therapy, clinically proven to suppress the elevated LH levels in these women, may improve follicle function and increase the chance of ovulation. Here, we report the case of a woman with Overt POI diagnosed at age 35 years. To attempt pregnancy, she elected a trial of intrauterine insemination (IUI) in conjunction with follicle monitoring and physiologic hormone replacement therapy. She conceived on the eighth cycle of treatment and delivered a healthy baby. Our report calls for a concerted effort to define the best methods by which to optimize fertility for women who have POI.
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Project description:Background Primary osteosarcoma of the breast (POB) is an extremely aggressive and heterogeneous neoplasm that originates from nonepithelial elements of the mammary gland and accounts for fewer than 1% of breast cancers and fewer than 5% of all sarcomas. Case Presentation An 83-year-old Chinese woman went to our hospital because of a palpable mass she had had for 8 months in the left breast accompanied by persistent dull pain for 10 days. This mass was initially misdiagnosed as a degenerating fibroadenoma and was graded as probably benign (BI-RADS category 3) by ultrasonography (US) and computed tomography (CT) plain scan and contrast enhancement of chest. Eight months later, it was presumed to be highly malignant and graded as BI-RADS category 4C because of its rapid growth and more calcifications by US and CT. 99mTc-MDP whole-body bone imaging showed that there was a mass-like abnormal radioactive concentration of Tc-99m outside the bone of the left chest. The lumpectomy of the left breast was indicated, and the pathological findings were POB. She succumbed to respiratory failure caused by multiple lung metastases 4 months after the operation. Conclusion POB is rare, and US and CT cannot reliably distinguish the causes of calcified breast masses between benign and malignant tumors. It can be diagnosed by pathology when metaplastic carcinoma, malignant phyllodes tumor, or carcinosarcoma containing osteoid and bone is excluded. This case could help clinicians to improve the prognosis and treatment of this disease.
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Project description:Background:Primary peritoneal ependymoma is an exceedingly rare tumour with only four cases reported in the literature. It typically follows an indolent disease course. We describe a rare case of metastatic primary peritoneal ependymoma which was treated with chemotherapy and radiotherapy resulting in prolonged survival to date for 10 years. Case Presentation. The patient was a 23-year-old female on presentation. She presented with right upper quadrant pain associated with an abdominal mass. Computed tomography demonstrated a large mass displacing the liver. Debulking surgery was done revealing a tumour arising from the peritoneum as well as multiple metastatic pleural and peritoneal nodules. Pathology was consistent with primary peritoneal ependymoma. The patient was then treated with multiple lines of chemotherapy containing etoposide as the backbone. She also received palliative radiotherapy to the thoracic metastases with good and durable response. Conclusion:We reported a rare case of metastatic primary peritoneal ependymoma. Etoposide containing the chemotherapy regimen is effective in the treatment of peritoneal ependymoma. Radiotherapy is also effective for palliation of local symptoms with durable response.
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Project description:The aim of the present study was to present a rare case of primary acral amelanotic malignant melanoma (AMM). A 61-year-old man developed an aggressive tumor in the front part of the sole of his left foot, which continued to increase in size for >1 year. The biopsy results revealed epidermis loss, ulcer formation, and the presence of abundant allotropic tumor cells throughout the dermis, with deeply stained nuclei, light reddish cytoplasm and visible multinucleated giant cells with heterogeneous nuclear division. The tumor cells exhibited partial formation of nests and bundled distribution, and there were no observed pigment particles. The diagnosis was confirmed as AMM based on the findings of the histopathological examination and immunohistochemical staining for Ki67 (+++), Melan-A (+++), human melanoma black 45 (+), CD20 (-), cytokeratin (CK)7 (-) and CK5/6 (-).
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Project description:Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability. Fragile X associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disorder seen more often in older men. Fragile X associated primary ovarian insufficiency (FXPOI) is a chronic disorder characterized by oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. There may be significant morbidity due to: (1) depression and anxiety related to the loss of reproductive hormones and infertility; (2) reduced bone mineral density; and (3) increased risk of cardiovascular disease related to estrogen deficiency. Here we report the case of a young woman who never established regular menses and yet experienced a 5-year diagnostic odyssey before establishing a diagnosis of FXPOI despite a known family history of fragile X syndrome and early menopause. Also, despite having clearly documented FXPOI the woman conceived spontaneously and delivered two healthy children. We review the pathophysiology and management of FXPOI. As a rare disease, the diagnosis of FXPOI presents special challenges. Connecting patients and community health providers with investigators who have the requisite knowledge and expertise about the FMR1 gene and FXPOI would facilitate both patient care and research. There is a need for an international natural history study on FXPOI. The effort should be coordinated by a global virtual center, which takes full advantage of mobile device communication systems.
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Project description:Extra-uterine mullerian adenosarcomas have varying biological behaviours depending on the presence of endometriosis or sarcomatous overgrowth. These behaviours manifest according to the tumours' histological characteristics and sites of origin. The best treatment and oncologic outcome have not been clarified because only a few cases of extra-uterine and extra-ovarian adenosarcoma have been described in the literature. Here, we report a case of primary peritoneal adenosarcoma with sarcomatous overgrowth and review all reported cases of adenosarcomas arising outside of the uterus and outside the ovaries to identify the best treatment options and clarify outcomes.A 79-year-old woman was referred to our Department with an abdominal mass resembling a fibroid with a haemorrhage. Her gynaecological history was negative. A transvaginal and transabdominal ultrasound examination revealed a multicystic mass resembling an ovarian tumour arising from the pelvis and extending up to the abdomen. At laparotomy a peritoneal mass arising from Douglas peritoneum was resected. The uterus and adnexa appeared normal, and a supra-cervical hysterectomy with bilateral salpingo-oophorectomy was performed. No macroscopic residual disease was present. Final pathology diagnosed a malignant peripheral nerve sheath tumors with divergent differentiation. Four weeks later a new, multicystic mass was found. Due to the progressive poor condition, the patient died four months after diagnosis. Histological slides were reviewed by external expert pathologists and the final diagnosis was of extra-genital adenosarcoma with sarcomatous overgrowth. Furthermore, we also collected and analysed articles written in English regarding extra-uterine and extra-ovarian adenosarcomas published between January 1974 and October 2016. PubMed was used as a database for this search. Clinical and pathological characteristics, treatments and outcomes were assessed.Only 41 cases has been reported in literature. Previous endometriosis and sarcomatous overgrowth showed an inverse effect on prognosis. Endometriosis was confirmed to have a positive effect on disease free survival Complete surgical resection is the mainstay of treatment. A worldwide registry is urgently required to collect data to standardize treatment and to obtain reliable data on prognosis.
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