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Malignant melanoma of the female urethra 女性尿道恶性黑色素瘤
Pub Date : 2017-04-10 DOI: 10.5430/CRCP.V4N2P5
T. Terada
Backgrounds: Malignant melanoma (MM) of urethra is extremely rare; only 84 cases have been reported in PubMed search. Case: An 84-year-old woman presented dysuria. Physical and endoscopic examination revealed a polypoid tumor in proximal urethra, and endoscopic tumorectomy was performed. The tumor could not be seen in outer genitalia. Grossly, the tumor is brownish soft tumor measuring 15 mm × 26 mm × 23 mm. Multiple sections were made and immunohistochemical procedures were performed. Microscopically, malignant epithelioid cells with brown pigment were seen to proliferate and invade. The size of tumor was circa 13 mm × 21 mm × 18 mm. The depth of invasion was 10 mm (pT4), but it was not clear whether the marginal tissue status is positive or negative. Lymphovascular permeation seen, yet no obvious vascular invasion was noted. The brown pigment was found to be melanin by Masson-Fontana stain. Immunohistochemical study showed tumor cells were positive for vimentin, S100 protein, HMB45, Melan A, p53, and Ki67 (labeling = 85%), KIT and PDGFRA, while they were negative for cytokeratins. Genetic analysis of paraffin-embedded tumor tissue identified no mutations in hot spots of KIT and PDGFRA genes. No apparent metastatic lesions were seen after the diagnosis. The outcome of the patient is unknown because the patient was referred to a large hospital specializing in cancer treatment. Conclusions: The author presented a very rare case of MM of the proximal urethra. The MM showed typical histochemical and immunohistochemical features. No mutations of KIT and PDGFRA were seen.
背景:尿道恶性黑色素瘤(MM)极为罕见;在PubMed检索中仅报告了84例。病例:84岁女性排尿困难。体检及内窥镜检查发现尿道近端息肉样肿瘤,并行内镜下肿瘤切除术。外生殖器未见肿瘤。肉眼可见,肿瘤为棕色软瘤,大小为15mm × 26mm × 23mm。制作多个切片并进行免疫组织化学处理。镜下可见棕色色素的恶性上皮样细胞增生和侵袭。肿瘤大小约13 mm × 21 mm × 18 mm。浸润深度为10 mm (pT4),边缘组织状态是阳性还是阴性尚不清楚。可见淋巴血管浸润,但未见明显血管浸润。马松-丰塔纳染色发现棕色色素为黑色素。免疫组化研究显示肿瘤细胞vimentin、S100蛋白、HMB45、Melan A、p53、Ki67(标记率85%)、KIT、PDGFRA阳性,细胞角蛋白阴性。石蜡包埋肿瘤组织的遗传分析未发现KIT和PDGFRA基因热点突变。诊断后未见明显的转移性病变。由于该患者被转诊到一家专门治疗癌症的大型医院,目前尚不清楚其结果。结论:作者报告了一例非常罕见的尿道近端MM。MM表现出典型的组织化学和免疫组织化学特征。KIT和PDGFRA未见突变。
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引用次数: 0
Ultrasound guided fine needle aspiration cytology diagnosis of collision tumor in a lymph node: Lymphoma and metastatic adenocarcinoma 超声引导细针穿刺细胞学诊断淋巴结碰撞瘤:淋巴瘤和转移性腺癌
Pub Date : 2017-03-28 DOI: 10.5430/CRCP.V4N2P1
Qian Wang, Dhana Balakrishnan, Maoxin Wu
Diagnosis of two distinct malignancies in a single sample is rare. Here we report a case of lung adenocarcinoma metastasized to a supraclavicular lymph node which was concomitantly diagnosed with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) using ultrasound-guided fine needle aspiration biopsy (US-FNA) sample. A 62-year-old Caucasian male presented with cough and bloody sputum. US-FNA of a supraclavicular lymph node showed two distinct cell populations and, based on morphological examination and immunohistochemical staining of the FNA cell block slides, diagnosed with CLL/SLL and metastatic lung adenocarcinoma. Flow cytometric analysis of peripheral blood supported the diagnosis of CLL/SLL. To our knowledge, this is a rarely reported cytology case in which metastatic lung adenocarcinoma is concurrently diagnosed with CLL/SLL in a single lymph node and can be diagnosed based an FNA sample.
在单个样本中诊断出两种不同的恶性肿瘤是罕见的。在这里,我们报告了一例肺腺癌转移到锁骨上淋巴结的病例,该病例同时使用超声引导的细针抽吸活检(US-FNA)样本诊断为慢性淋巴细胞白血病/小淋巴细胞淋巴瘤(CLL/SLL)。一名62岁的白人男性,表现为咳嗽和带血痰。锁骨上淋巴结的US-FNA显示出两种不同的细胞群,根据FNA细胞块载玻片的形态学检查和免疫组织化学染色,诊断为CLL/SLL和转移性肺腺癌。外周血流式细胞仪分析支持CLL/SLL的诊断。据我们所知,这是一个很少报道的细胞学病例,其中转移性肺腺癌在单个淋巴结中同时被诊断为CLL/SLL,并且可以根据FNA样本进行诊断。
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引用次数: 0
Congenital cutaneous candidiasis and candidemia in a preterm infant: A case report 早产儿先天性皮肤念珠菌感染和念珠菌血症1例报告
Pub Date : 2017-01-18 DOI: 10.5430/CRCP.V4N1P68
S. Oberhauser, S. Böhm, A. Niederer, B. Rogdo
We report a case of congenital cutaneous candidiasis (CCC) progressing to candidemia in an extremely low birth weight infant. A high level of suspicion concerning candida sepsis as well as timely diagnostic work-up and treatment can be lifesaving when a preterm infant presents with lesions suggestive of congential cutaneous candidiasis.
我们报告一例先天性皮肤念珠菌病(CCC)进展到念珠菌病在一个极低的出生体重婴儿。当早产婴儿出现提示先天性皮肤念珠菌病的病变时,高度怀疑念珠菌败血症以及及时的诊断检查和治疗可以挽救生命。
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引用次数: 1
Niemann-Pick’s disease type B and brain iron accumulation 尼曼-匹克病B型与脑铁积累
Pub Date : 2017-01-08 DOI: 10.5430/CRCP.V4N1P62
F. Garzuly, L. Szabó, Renáta Bencsik, J. Molnár, B. Kálmán
Background: Niemann-Pick’s type B (NP-B) disease is a rare, autosomal recessive visceral storage disorder related to a lysosomal accumulation of sphingomyelin, which is caused by mutations in the sphingomyelinase gene, SMPD1 . Case report: We present a boy who had normal early development, but from one year of age, he showed progressive manifestations of hepatosplenomegaly, somatomotor retardation and cardiopulmonary dysfunction. The activity of the sphingomyelinase enzyme was very low in his fibroblasts. He died at 17 years of age from cardio-respiratory insufficiency. Gross pathology and histology of the internal organs were compatible with Niemann-Pick’s disease. His brain and spinal cord displayed no signs of storage disease, confirming the subtype of NP-B. Unexpectedly, however, significant accumulation of iron was seen in the substantia nigra, subthalamic nuclei, putamen, globus pallidus and some cortical regions accompanied by axonal spheroids. Brain iron accumulation is the hallmark of a disease group termed neurodegeneration with brain iron accumulation (NBIA). Sequencing of the known NBIA disease genes was unsuccessful in the proband’s DNA isolated from formalin-fixed, paraffin-embedded blocks, but both asymptomatic parents were heterozygous carriers of the same c19orf12 deletion. Conclusions: This case initially raised the question as to whether two rare autosomal recessive disorders, NP-B and a subtype of NBIA could have co-occurred in our patient, or the lipid dysmetabolism due to sphingomyelinase deficiency caused secondary brain iron accumulation. Genetic analyses in the parents suggested the former possibility by identifying a c19orf12 gene deletion known to underlie in homozygous state Mitochondrial Membrane Protein Associated Neurodegeneration.
背景:尼曼-匹克氏B型(NP-B)病是一种罕见的常染色体隐性隐性内脏贮积疾病,与鞘磷脂溶酶体积聚有关,由鞘磷脂酶基因SMPD1突变引起。病例报告:我们报告一个早期发育正常的男孩,但从一岁开始,他表现出肝脾肿大,躯体运动迟缓和心肺功能障碍的进行性表现。成纤维细胞的鞘磷脂酶活性很低。他17岁时死于心肺功能不全。内脏大体病理和组织学与尼曼-匹克病相符。他的大脑和脊髓没有储存疾病的迹象,证实了NP-B亚型。然而,出乎意料的是,在黑质、丘脑底核、壳核、苍白球和一些伴随轴突球体的皮质区域发现了显著的铁积累。脑铁积累是一种称为脑铁积累神经变性(NBIA)的疾病组的标志。从福尔马林固定石蜡包埋块中分离的先证DNA中,未对已知的NBIA疾病基因进行测序,但两个无症状的父母都是相同的c19orf12缺失的杂合携带者。结论:本病例最初提出的问题是,是否两种罕见的常染色体隐性遗传病NP-B和NBIA亚型可能同时发生在我们的患者身上,或者鞘磷脂酶缺乏引起的脂质代谢异常导致继发性脑铁积累。通过对父母的遗传分析,发现了一种c19orf12基因缺失,这种缺失是纯合子状态下线粒体膜蛋白相关神经变性的基础,表明了前一种可能性。
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引用次数: 1
Intramuscular hemangioma with extensive ossification: Unique radiographic and histologic features 具有广泛骨化的肌肉内血管瘤:独特的影像学和组织学特征
Pub Date : 2016-12-18 DOI: 10.5430/CRCP.V4N1P59
B. Nowroozizadeh, Di Lu
Intramuscular hemangioma is a benign tumor representing 0.8% of all hemangiomas. Rarely intramuscular hemangioma presents with massive ossification in the mass that can be misleading and cause misdiagnoses, and unnecessary workups. We describe a case of intramuscular hemangioma with massive ossification in the left thigh of a 54-year-old man presented with pressure symptoms while exercising.
肌内血管瘤是一种良性肿瘤,占所有血管瘤的0.8%。肌肉内血管瘤很少表现为肿块内的大量骨化,这可能会导致误诊和不必要的检查。我们描述了一例肌肉内血管瘤与大量骨化在左大腿的一个54岁的男人提出的压力症状,而运动。
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引用次数: 1
Transient Adenocorticotropic Hormone deficiency in an infant 婴儿短暂性促腺皮质激素缺乏
Pub Date : 2016-12-12 DOI: 10.5430/CRCP.V4N1P56
N. A. Jurayyan, S. Issa, R. N. A. Jurayyan
Background: Isolated Adenocorticotropin Hormone (ACTH) deficiency is a rare disorder, characterized by secondary adrenal insufficiency with a low or absent cortisol production, normal secretion of other pituitary hormones and absence of structural pituitary defects. Case summary: The patient was the product of a 28 weeks gestation, clomiphen induced to a 40-year-old, gestational diabetic mother. He was ventilated for 30 days, and was diagnosed to have grade IV Retina of Prematurity (ROP). He suffered from recurrent attacks of hypoglycemic, blood sugar of 1.6 mmol/L, low serum cortisol 65 nmol/L (normal; 150-630), and ACTH of 1.5 pmol/L (normal; 1.6-13.9), with suppressed serum insulin and normal thyroid, growth hormone and gonadal functions. Magnetic Resonance Imaging (MRI) was unremarkable. He was started on hydrocortisone 2.5 mg twice daily for two years, which was then slowly tapered and stopped. Later Serum cortisol was 175 nmol/L, and ACTH of 5.5 pmol/L with a normal shot ACTH stimulation test. Conclusions: This case of a premature baby who presented with recurrent hypoglycemia had an isolated ACTH deficiency that proved to be transient. The pediatricians need to be aware of the existence of such condition.
背景:孤立性促肾上腺皮质激素(ACTH)缺乏症是一种罕见的疾病,其特征是继发性肾上腺功能不全,皮质醇分泌低或缺失,其他垂体激素分泌正常,无结构性垂体缺陷。病例总结:患者是妊娠28周,克罗米芬诱导的40岁妊娠糖尿病母亲的产物。患儿经通气治疗30天,诊断为早产儿视网膜(ROP)四级。低血糖反复发作,血糖1.6 mmol/L,血清皮质醇低65 nmol/L(正常;ACTH 1.5 pmol/L(正常;1.6-13.9),血清胰岛素抑制,甲状腺、生长激素和性腺功能正常。磁共振成像(MRI)无明显差异。他开始使用氢化可的松2.5毫克,每天两次,持续两年,然后逐渐减少并停止。血清皮质醇为175 nmol/L, ACTH为5.5 pmol/L。结论:本病例早产儿谁提出了反复低血糖有孤立的ACTH缺乏,证明是短暂的。儿科医生需要意识到这种情况的存在。
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引用次数: 1
Metastatic lung carcinoma presenting as intussusception of the ascending colon 转移性肺癌表现为升结肠肠套叠
Pub Date : 2016-11-28 DOI: 10.5430/CRCP.V4N1P52
D. Halleran, B. Onderdonk
Introduction: Lung cancer remains a leading cause of cancer deaths worldwide, and an estimated 50% of cases are associated with metastasis at the time of diagnosis. We present the case of a 45-year-old female smoker with a history of right upper lobectomy with radiation for lung adenocarcinoma who, nine months later, presented with abdominal pain and was found to have an isolated metastatic lesion to the cecum causing intussusception. Case description: A 45-year-old woman presented with a two-day history of abdominal pain, melena, fever, and chills. A diagnostic workup revealed a mass in the cecum and a colocolic intussusception. The patient underwent right hemicolectomy and was discharged following a slow recovery. Microscopic examination of the lesion revealed an adenocarcinoma histologically identical to the primary lung tumor. Further workup failed to uncover any further evidence of disease. The patient continues to be well after 23 years of clinical follow-up. Discussion: Metastasis to the colon is a rare event but represents advanced disease and the prognosis is poor. Symptomatic involvement of the colon has only been reported in fourteen previous cases. Conclusions: Although uncommon, metastatic disease from lung to colon should be considered in patients with lung and large bowel masses diagnosed within a relatively short time course. More likely are synchronous primaries or colon metastasis to the lung, but an accurate diagnosis is critical. Lung metastasis to the bowel portends a poor prognosis, but isolated metastatic disease can be surgically resected for cure as demonstrated in our case.
肺癌仍然是世界范围内癌症死亡的主要原因,估计有50%的病例在诊断时与转移有关。我们报告一例45岁的女性吸烟者,曾因肺腺癌行右上肺叶切除术并放射治疗,9个月后出现腹痛,并被发现有孤立的盲肠转移灶,导致肠套迭。病例描述:一名45岁女性,有两天腹痛、黑黑、发烧和发冷史。诊断检查显示盲肠肿块和结肠肠套叠。患者接受了右半结肠切除术,恢复缓慢后出院。显微镜检查显示病变为与原发肺肿瘤相同的腺癌。进一步的检查没有发现任何进一步的疾病证据。经过23年的临床随访,患者的情况仍然良好。讨论:转移到结肠是一种罕见的事件,但代表晚期疾病和预后差。有症状的结肠受累只有14例报告。结论:虽然不常见,但在较短时间内诊断出肺和大肠肿块的患者应考虑从肺到结肠的转移性疾病。更可能是同步原发或结肠转移到肺,但准确的诊断是至关重要的。肺转移到肠道预示着预后不良,但孤立的转移性疾病可以手术切除治疗,正如本病例所示。
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引用次数: 0
Craniofacial fibrous dysplasia: A case report and literature review 颅面纤维发育不良1例报告及文献复习
Pub Date : 2016-11-22 DOI: 10.5430/CRCP.V4N1P47
Ilson Sepúlveda, M. L. Spencer, P. Flores, J. Ulloa
Fibrous dysplasia (FD) is a rare osseous pathology of unknown origin in which normal bone is replaced by fibro-osseous tissue. Recent research has linked FD to a somatic mutation in the protein transcription of the GNAS1 gene, which leads to an increase in intracellular cyclic adenosine monophosphate. FD represents 3% of all bony tumors and over 7% of all non-malignant bone tumors. FD has various clinical presentation groups such as the monostotic, craniofacial and polyostotic forms, and the McCune-Albright syndrome. We present a craniofacial FD case of a 45-year-old female patient, who underwent surgical treatment many times.
纤维性发育不良(FD)是一种罕见的骨病理,原因不明,其中正常骨被纤维骨组织所取代。最近的研究将FD与GNAS1基因蛋白质转录的体细胞突变联系起来,该突变导致细胞内环磷酸腺苷增加。FD占所有骨肿瘤的3%,非恶性骨肿瘤的7%以上。FD有不同的临床表现组,如单侧、颅面和多骨裂形式,以及McCune-Albright综合征。我们报告一例45岁的女性颅面FD患者,她接受了多次手术治疗。
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引用次数: 1
A primary vertebral epithelioid osteosarcoma in middle age adult 中年人原发性椎体上皮样骨肉瘤1例
Pub Date : 2016-11-14 DOI: 10.5430/CRCP.V4N1P43
Kyoungyul Lee, Minsun Jung, Young-Joon Ryu
Primary vertebral epithelioid osteosarcoma is an extremely rare malignancy, characterized by predominant epithelioid cells and occurs mainly in adolescents and young adults. To our knowledge, only one previous report described a lumbar vertebral epithelioid osteosarcoma including the clinical information, pathologic features and immunohistochemical profile. This report is a first case of primary epithelioid osteosarcoma arising in the eighth thoracic vertebrae (T8) in middle aged man. Whole body scans as well as histological and immunohistochemical examinations were performed for excluding the possibility of metastatic malignancy or secondary osteosarcoma. Metastatic lesions showing the same morphological and immunohistochemical characteristics were demonstrated at the fifth lumbar vertebra (L5) and sternum were described 1 year after excision and high dose of Methotraxate (MTX) chemotherapy.
原发性椎体上皮样骨肉瘤是一种极其罕见的恶性肿瘤,以上皮样细胞为主,主要发生在青少年和青壮年。据我们所知,以前只有一篇报道描述了腰椎上皮样骨肉瘤,包括临床信息、病理特征和免疫组织化学谱。本文报告一例发生于中年男性第8胸椎(T8)的原发性上皮样骨肉瘤。进行全身扫描以及组织学和免疫组织化学检查,以排除转移性恶性肿瘤或继发性骨肉瘤的可能性。在切除和高剂量甲氨蝶呤(MTX)化疗1年后,在第五腰椎(L5)和胸骨表现出相同的形态学和免疫组织化学特征的转移性病变。
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引用次数: 0
Case series of acute nutritional neuropathies after gastric bypass: A Guillain Barré syndrome mimic 胃分流术后急性营养性神经病变病例系列:模拟格林-巴利综合征
Pub Date : 2016-10-27 DOI: 10.5430/CRCP.V4N1P37
T. Nguyen, Akhila Vijayakumar, S. Biliciler, K. Sheikh
Gastric bypass procedures for morbid obesity are increasingly common in the United States. Neuropathy following gastric bypass surgeries is estimated at 6%. Most practitioners recognize this as a chronic complication due to nutritional deficiencies. We present three cases of severe, acute, nutritional neuropathy occurring after gastric bypass surgeries. We retrospectively reviewed charts of three patients with acute to subacute neuropathies following gastric bypass surgeries presenting over one year to UTHealth. Data regarding clinical presentation, electrophysiology, diagnostic studies and outcomes are collected. We identified three patients with acute, disabling, ascending numbness and weakness. All patients had intractable vomiting and significant rapid weight loss. Electrodiagnostic studies revealed axonal sensory-motor neuropathy. Cerebrospinal fluid (CSF) studies did not show albuminocytologic dissociation. Two patients were treated with immunomodulation. Nutritional deficiencies were identified as the etiology in all patients. Further reports and research may prevent unnecessary and costly immunomodulatory treatments.
胃旁路手术治疗病态肥胖在美国越来越普遍。胃旁路手术后的神经病变估计为6%。大多数医生认为这是由于营养缺乏引起的慢性并发症。我们提出三个病例严重,急性,营养神经病变发生胃分流手术后。我们回顾性地回顾了三名胃旁路手术后急性至亚急性神经病变患者的图表,这些患者在一年多的时间里向uthehealth提出。收集有关临床表现、电生理学、诊断研究和结果的数据。我们确定了三名患者急性,致残,上升麻木和虚弱。所有患者均出现难治性呕吐和显著的体重迅速下降。电诊断显示轴突感觉-运动神经病变。脑脊液(CSF)研究未显示白蛋白细胞分离。2例患者接受免疫调节治疗。所有患者的病因均为营养缺乏。进一步的报告和研究可能会防止不必要和昂贵的免疫调节治疗。
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引用次数: 1
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Case reports in clinical pathology
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