scholarly journals Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Arnaud Beddok ◽  
Gaëlle Pérot ◽  
Sophie Le Guellec ◽  
Noémie Thebault ◽  
Alexandre Coutte ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Molecular Analysis ◽  
Sanger Sequencing ◽  
Pathological Examination ◽  
Genomic Profile ◽  
Dna Array ◽  
Left Forearm ◽  
Left Buttock ◽  
The Right ◽  
Left Scapula

AbstractSoft tissue sarcoma represents about 1% of all adult cancers. Occurrence of multiple sarcomas in a same individual cannot be fortuitous. A 72-year-old patient had between 2007 and 2016 a glomangiopericytal tumor of the right forearm and a succession of sarcomas of the extremities: a leiomyosarcoma of the left buttock, a myxofibrosarcoma (MFS) of the right forearm, a MFS of the left scapula, a left latero-thoracic MFS and two undifferentiated sarcomas on the left forearm. Pathological examination of the six locations was not in favor of disease with local/distant recurrences but could not confirm different diseases. An extensive molecular analysis including DNA-array, RNA-sequencing and DNA-Sanger-sequencing, was thus performed to determine the link between them. The genomic profile of the glomangiopericytal tumor and the six sarcomas revealed that five sarcomas were different diseases and one was the local recurrence of the glomangiopericytal tumor. While the chromosomal alterations in the six tumors were different, a common somatic CDKN2A/CDKN2B deletion was identified. RNA-sequencing of five tumors identified mutations in GLT8D1, GATAD2A and SLC25A39 in all samples. The germline origin of these mutations was confirmed by Sanger-sequencing. Innovative molecular analysis methods have made possible a better understanding of the complex tumorigenesis of multiple sarcomas.

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period

2021 ◽  
Author(s):  
Arnaud Beddok ◽  
Gaëlle Perot ◽  
Sophie Le Guellec ◽  
Noemie Thebault ◽  
Alexandre Coutte ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Molecular Analysis ◽  
Sanger Sequencing ◽  
Pathological Examination ◽  
Genomic Profile ◽  
Dna Array ◽  
Left Forearm ◽  
Left Buttock ◽  
The Right ◽  
Left Scapula

Abstract Soft tissue sarcoma represents about 1% of all adult cancers. Occurrence of multiple sarcomas in a same individual cannot be fortuitous. A 72-year-old patient had between 2007 and 2016 a glomangiopericytal tumor of the right forearm and a succession of sarcomas of the extremities: a leiomyosarcoma of the left buttock, a myxofibrosarcoma (MFS) of the right forearm, an MFS of the left scapula, a left latero-thoracic MFS and two undifferentiated sarcomas on the left forearm. Pathological examination of the six locations was not in favor of disease with local/distant recurrences but could not confirm different diseases. An extensive molecular analysis including DNA-array, RNA-sequencing and DNA-Sanger-sequencing, was thus performed to determine the link between them. The genomic profile of the glomangiopericytal tumor and the six sarcomas revealed that five sarcomas were different diseases and one was the local recurrence of the glomangiopericytal tumor. While the chromosomal alterations in the six tumors were different, a common somatic CDKN2A/CDKN2B deletion was identified. RNA-sequencing of five tumors identified mutations in GLT8D1, GATAD2A and SLC25A39 in all samples. The germline origin of these mutations was confirmed by Sanger-sequencing. Innovative molecular analysis methods have made possible a better understanding of the complex tumorigenesis of multiple sarcomas.

scholarly journals Severe bone disease caused by primary hyperparathyroidism: a case report and review of the literature

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052096648
Author(s):  
Yu Wang ◽  
Jie Liu
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Bone Disease ◽  
Distal Humerus ◽  
Left Lobe ◽  
Pathological Examination ◽  
Hypoechoic Mass ◽  
Brown Tumors ◽  
Restricted Mobility ◽  
The Right

Bone disease is an important complication of hyperparathyroidism. We herein report a rare case of severe bone disease caused by primary hyperparathyroidism. A 33-year-old man presented with pain and restricted mobility in his right upper limb and right hip due to a fall 3 days previously. X-ray examination showed a fracture of the proximal and distal humerus. Computed tomography examination showed a supracondylar fracture of the right humerus, a fracture of the right femoral neck, a fracture of the right sciatic branch, and multiple brown tumors. Ultrasonography showed a 3.5- × 1.6-cm hypoechoic mass below the left lobe of the thyroid. The patient was diagnosed with primary hyperparathyroidism based on increased serum calcium and parathormone concentrations, pathological fractures, and multiple brown tumors. He therefore underwent bilateral lower parathyroidectomy. Pathological examination revealed a parathyroid adenoma. The patient recovered well after surgery and was followed up for 6 months with no symptoms of hyperparathyroidism. This case report suggests that clinicians should be aware of the possibility of severe bone disease secondary to primary hyperparathyroidism. Active and early diagnosis and surgical treatment are important in such cases.

scholarly journals Laparoscopic Resection of Renal Capsular Endometriosis in a Woman with Menstrual-Related Flank Pain: Case Report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Abbas Basiri ◽  
Iman Ghanaat ◽  
Hamidreza Akbari Gilani
Keyword(s):  
Flank Pain ◽  
Pathological Examination ◽  
Histologic Evaluation ◽  
Normal Renal Parenchyma ◽  
Perinephric Space ◽  
Superior Portion ◽  
The Right ◽  
First Time ◽  
Laparoscopic Removal

Abstract Background Although involvement of the urinary system is not uncommon, endometriosis in the kidneys is rare. To date, laparoscopic partial nephrectomy has been the preferred approach for managing renal endometriosis. Here, we report for the first time the results of laparoscopic removal of a renal capsular endometriosis in a malrotated kidney in an attempt to save the whole kidney parenchyma, in terms of feasibility and safety. Case presentation A 37-year-old female presented with periodic right flank pain associated with her menstrual cycle. On imaging, a malrotated right kidney and a hypodense irregular-shaped lesion measuring 30 * 20 * 15 mm were seen in the superior portion of the right perinephric space. Histologic evaluation of the ultrasound-guided biopsy was consistent with renal capsular endometriosis. The patient underwent laparoscopic surgery to remove the capsular mass while preserving the normal renal parenchyma. Pathological examination of the biopsy obtained during surgery was in favor of renal endometriosis. At 6-month follow-up, the patient’s pain had completely disappeared and no complications had occurred. In addition, imaging did not show any remarkable recurrence. Conclusion Renal endometriosis should be strongly considered as a differential diagnosis in female patients with a renal capsular mass and exacerbation of flank pain during menstruation. Based on our experience, with preoperative needle biopsy and clearing the pathology, laparoscopic removal of the mass in spite of renal anatomic abnormality is feasible and safe and thus could be considered as a possible treatment option.

scholarly journals RONC-26. A CASE OF RADIATION NECROSIS OF THE CEREBELLUM 16 YEARS AFTER CHEMORADIOTHERAPY FOR MEDULLOBLASTOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii460-iii460
Author(s):  
Mayuko Miyata ◽  
Masahiro Nonaka ◽  
Akio Asai
Keyword(s):  
Radiation Necrosis ◽  
Tumor Resection ◽  
Pathological Examination ◽  
Secondary Cancer ◽  
Brain Necrosis ◽  
Cerebellar Medulloblastoma ◽  
Cerebellar Peduncle ◽  
The Right ◽  
The Brain

Abstract BACKGROUND If new lesions are observed during follow-up of the malignant tumor after treatment, it is difficult to distinguish whether the tumor is a recurrent lesion, secondary cancer, or radiation necrosis of the brain. We have encountered a patient with symptomatic radiation necrosis of the cerebellum 16 years after treatment of medulloblastoma. CASE PRESENTATION: A 24-year-old man who had received a tumor resection and chemoradiotherapy for cerebellar medulloblastoma at the age of 8 presented with dizziness. For the past 16 years, there was no recurrence of the tumor. He subsequently underwent MRI scan, and T1-Gd image showed enhanced lesion in the right cerebellar peduncle. Cerebrospinal fluid cytology analysis was negative for tumor. We suspected tumor reccurence or secondary cancer, and performed lesion biopsy. The result of the pathological examination was radiation necrosis of the cerebellum. DISCUSSION: The interval of radiation necrosis of the brain and radiotherapy can vary from months to more than 10 years. So, whenever a new lesion is identified, radiation brain necrosis must be envisioned. According to guidelines in Japan, there is no absolute examination for discriminating tumor recurrence from radiation brain necrosis and diagnosis by biopsy may be required. CONCLUSION We experienced a case of symptomatic radiation necrosis of the cerebellum 16 years after treatment. In patients showing new lesion after long periods of time, the possibility of radiation necrosis to be considered.

Ovarian abscessation and oophoritis in a first lactation dairy cow: a case report

Livestock ◽  
2021 ◽  
Vol 26 (5) ◽  
pp. 228-232
Author(s):  
David Charles ◽  
Victoria Wyse ◽  
Katie Waine ◽  
Mark Wessels
Keyword(s):  
Case Report ◽  
Dairy Cow ◽  
Transrectal Ultrasound ◽  
Rare Condition ◽  
Pathological Examination ◽  
The Right

A 28-month-old first lactation dairy cow presented as ‘oestrus not observed’ and transrectal ultrasound showed a hyperechoic mass on the right ovary. The mass continued to grow despite treatment, and 8 weeks later a right-sided ovariectomy was performed. A single, large, cavitated mass was found on gross pathological examination with histopathology confirming ovarian abscessation and oophoritis, a rare condition in cattle.

scholarly journals Clinical and morphological study of calf enlargement following S-1 radiculopathy

1992 ◽  
Vol 50 (3) ◽  
pp. 383-386 ◽  
Author(s):  
Osvaldo J. M. Nascimento ◽  
Marcos R. G. de Freitas ◽  
Myrian D. Hahn ◽  
Abelardo Q. C. Araújo
Keyword(s):  
Gastrocnemius Muscle ◽  
Rare Condition ◽  
Satisfactory Explanation ◽  
Lower Back ◽  
Left Buttock ◽  
Left Calf ◽  
One Year ◽  
The Right ◽  
Gastrocnemius Muscles

Calf enlargement following sciatica is a rare condition. It is reported the case of a 28-year-old woman who complained of repeated episodes of lower back pain radiating into the left buttock and foot. One year after the beginning of her symptoms, she noticed enlargement of her left calf. X-ray studies disclosed L5-S1 disk degeneration. EMG showed muscle denervation with normal motor conduction velocity. Open biopsies of the gastrocnemius muscles were performed. The left gastrocnemius muscle showed hypertrophic type 2 fibers in comparison with the right gastrocnemius. Electron microscopy showed mildly increased number of mitochondria in these fibers. A satisfactory explanation for denervation hypertrophy has yet to be provided.

scholarly journals Atypical Growth Pattern of an Intraparenchymal Meningioma

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Zhen Zeng ◽  
Tijiang Zhang ◽  
Yihua Zhou ◽  
Xiaoxi Chen
Keyword(s):  
Growth Pattern ◽  
Pineal Region ◽  
Pathological Examination ◽  
Intracranial Meningioma ◽  
Temporal Region ◽  
Right Cerebral Hemisphere ◽  
Dural Attachment ◽  
The Right ◽  
Chinese Male ◽  
Irregular Mass

Meningiomas are the most common primary nonneuroglial extra-axial neoplasms, which commonly present as spherical or oval masses with a dural attachment. Meningiomas without dural attachment are rare and, according to their locations, are classified into 5 varieties, including intraventricular, deep Sylvain fissure, pineal region, intraparenchymal, or subcortical meningiomas. To the best of our knowledge, intraparenchymal meningioma with cerebriform pattern has never been reported. In this paper, we report a 34-year-old Chinese male patient who presented with paroxysmal headaches and progressive loss of vision for 10 months and blindness for 2 weeks. A thorough physical examination revealed loss of bilateral direct and indirect light reflex. No other relevant medical history and neurologic deficits were noted. Computed tomography and magnetic resonance imaging scans showed an irregular mass with a unique cerebriform pattern and extensive peritumoral edema in the parietal-occipital-temporal region of the right cerebral hemisphere. The initial diagnosis was lymphoma. Intraoperatively, the tumor was completely buried in a sulcus in the parietal-occipital-temporal region without connecting to the dura. The histological diagnosis was intracranial meningioma based on pathological examination. Therefore, when an unusual cerebriform growth pattern of a tumor is encountered, an intraparenchymal meningioma should be considered as a differential diagnosis.

scholarly journals Benign phyllodes tumour of the prostate: An extremely rare entity

2014 ◽  
Vol 8 (7-8) ◽  
pp. 548 ◽  
Author(s):  
Ozgu Aydogdu ◽  
Yusuf Ziya Atesci ◽  
Ayhan Karakose ◽  
Eren Demirtas
Keyword(s):  
Lateral Lobe ◽  
Prostatic Hyperplasia ◽  
Pathological Examination ◽  
Resonance Imaging ◽  
Flexible Cystoscopy ◽  
Urinary Tract Symptoms ◽  
Phyllodes Tumour ◽  
The Right ◽  
Lower Urinary

Benign phyllodes tumour (BPT) of the prostate is a very rare neoplasm. It is composed of hyperplastic and neoplastic glandular stromal proliferation. Patients with BPT of the prostate generally present with lower urinary tract symptoms and hematuria. BPT of the prostate can potentially cause recurrent obstructive symptoms. Complete transurethral resection (TUR) and close postoperative follow-up is recommended. A 59-year-old man presented with dysuria and obstructive urinary symptoms. Flexible cystoscopy revealed prostatic hyperplasia and a polypoidal lesion originating from the right lateral lobe of the prostate. Magnetic resonance imaging revealed a 3 × 2.5-cm mass lesion in the right lateral lobe of the prostate. TUR of the prostate was performed and the pathological examination revealed benign prostatic hyperplasia and benign phyllodes tumour of the prostate.

scholarly journals A case report of DOPA-responsive dystonia in a young woman

2020 ◽  
pp. 45-48
Author(s):  
NA Belykh ◽  
MA Akhkyamova ◽  
VV Gusev ◽  
OA Lvova
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Genetic Predisposition ◽  
Emergency Treatment ◽  
Sanger Sequencing ◽  
Clinical Case ◽  
Young Female ◽  
Considerable Improvement ◽  
The Right ◽  
Pediatric Onset

Dopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy.

scholarly journals Breast Cancer Combined with Contralateral Neck Lymph Node Metastasis. Case Report

2021 ◽  
Author(s):  
Xiaoxiao Zhong ◽  
Fengjiao Ding ◽  
Liyuan Qian ◽  
Wei Wu ◽  
Yanguang Wen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Lymph Node Metastasis ◽  
Clinical Stage ◽  
Pathological Examination ◽  
Cervical Lymph Nodes ◽  
Neck Lymph Node ◽  
Node Metastasis ◽  
Neck Lymph Node Metastasis ◽  
The Right

Abstract Background: Contralateral neck lymph node metastasis is rare for primary breast cancer. Its clinical stage and treatment principles are lack of authoritative guidelines. A 30-year-old breast cancer patient with contralateral neck lymph node metastasis is presented. The clinical treatment is discussed combined with current research.Case presentation: A 30-year-old woman presented with a right breast mass for 5 months and left neck lymph node enlargement for 5 days. The mammography showed a 33mm*14.3mm mass in the inner quadrant of right breast. The ultrasound showed several hypoechoic nodules on the left side of the neck. Rapid intraoperative pathological examination diagnosed right breast malignant tumor and poorly differentiated carcinoma of the left cervical lymph nodes. Then the right mastectomy was performed immediately. The patient was scheduled to administer chemotherapy, molecular targeted therapy, radiotherapy and endocrinotherapy after operation. The long-term efficacy remains to be seen.Conclusion: The infrequent presentation of breast cancer with metastasis to the contralateral neck lymph node can be challenged for standard therapies.

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