scholarly journals Nodular Fasciitis With Malignant Morphology and a COL6A2–USP6 Fusion: A Case Report (of a 10-Year-old Boy)

2021 ◽  
pp. 106689692199604
Author(s):  
Tess Tomassen ◽  
Cees van de Ven ◽  
Jakob Anninga ◽  
Christian Koelsche ◽  
Laura S. Hiemcke-Jiwa ◽  
...  
Keyword(s):  
Benign Lesion ◽  
Nodular Fasciitis ◽  
Mesenchymal Neoplasm ◽  
Specific Protease ◽  
History Of ◽  
Mitotic Figures ◽  
Painless Mass ◽  
The Right

Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 ( USP6) rearrangements. We present a case of a 10-year-old boy with a 1.5-week history of a painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor with pronounced pleomorphism, atypical mitotic figures, and a myoid immunophenotype was observed. The methylation profile was consistent with nodular fasciitis and fluorescence in situ hybridization confirmed USP6 rearrangement. Using Archer Fusion Plex (Sarcoma Panel) and RNA sequencing, a collagen, type VI, alpha 2 ( COL6A2) –USP6 gene fusion was subsequently identified. Furthermore, DNA clustering analysis also showed a match with nodular fasciitis. During the follow-up of 22 months, no recurrence or metastasis occurred. In conclusion, we describe a clinically benign, histomorphologically malignant mesenchymal neoplasm with a myoid immunophenotype, and a genetic and epigenetic profile consistent with nodular fasciitis. In such cases, molecular analysis is a useful adjunct to avoid unnecessary overtreatment.

scholarly journals Parachordoma of Soft Tissues of the Arm: A Very Rare Tumour

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Vicente Estrems Díaz ◽  
Francesc Xavier Bertó Martí ◽  
Víctor Zarzuela Sánchez ◽  
Maria Isabel Cabanes Ferrer ◽  
Antonio Bru Pomer
Keyword(s):  
Soft Tissues ◽  
Imaging Techniques ◽  
Benign Lesion ◽  
Rare Tumour ◽  
Fourth Decade ◽  
History Of ◽  
English Speaking ◽  
Painless Mass ◽  
The Right ◽  
Slow Growing

Parachordoma is an infrequent neoplasm that bears some histologic resemblance to chordoma. It affects both sexes, occurs typically during the fourth decade of life, and tends to present as a slow-growing painless mass at the level of the soft tissues of the extremities. Diagnosis should be based on immunohistochemical and cytogenetic studies, as the findings of imaging techniques are often unspecific. Although it is considered a benign lesion, its behavior tends to be locally aggressive, with reports of a recurrence rate of up to 20% and of several cases of metastasis. Fewer than 60 cases have been published in the English-speaking literature. In this paper we present the case of a 32-year-old male with a two-year history of parachordoma in the right wrist.

scholarly journals Myoepithelioma-like tumor of the vulvar region: a case report in China and review of the literature

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Yan Xu ◽  
Hui Gao ◽  
Jin-Li Gao
Keyword(s):  
Tumor Cells ◽  
Epithelial Membrane Antigen ◽  
S100 Protein ◽  
Adult Women ◽  
Case Presentation ◽  
Mesenchymal Neoplasm ◽  
History Of ◽  
Subcutaneous Mass

Abstract Background Myoepithelioma-like tumor of the vulvar region (MELTVR) is a recently described mesenchymal neoplasm which typically arising in vulvar regions of adult women. Case presentation Here we report a case of a 65-year-old woman who presented with a 6-year history of subcutaneous mass in the vulvar region. The mass had recently increased in size continuously. Histologically, the tumor cells had an epithelioid to spindled shape. Epithelioid tumor cells proliferated singly or in a loosely cohesive manner with myxoid areas, while spindled tumor cells grew in diffuse sheets or storiform arrangements mainly in nonmyxoid areas. Immunohistochemically, the tumor cells were positive for vimentin, epithelial membrane antigen, calponin, and were partially mild to moderate positive for estrogen receptor, but completely negative for S100 protein, glial fibrillary acidic protein, CD34, desmin, SMA and cytokeratin. INI1/SMARCB1 expression was deficient. EWSR1 and FUS genes were intact tested by fluorescence in situ hybridization analysis. Based on these findings, we diagnose this case as MELTVR. The patient remained relapse-free after the lesion was widely excised during 8 months follow-up. Conclusions This disease should be included in the differential diagnostic list of vulvar tumors with epithelioid to spindled morphology. Recognition of its histopathological features and immunohistochemical reactivity will help to understand the tumor better.

Adenoid cystic carcinoma of the labium oris with rare metastasis to the pleural cavity

2021 ◽  
Vol 14 (1) ◽  
pp. e237622
Author(s):  
Osama Mosalem ◽  
Anas Alsara ◽  
Fawzi Abu Rous ◽  
Borys Hrinczenko
Keyword(s):  
Side Effects ◽  
Adenoid Cystic Carcinoma ◽  
Pleural Cavity ◽  
Epigastric Pain ◽  
Asian Woman ◽  
Upper Lip ◽  
Adenoid Cystic ◽  
History Of ◽  
The Right

A 57-year-old Southeast Asian woman with a remote history of adenoid cystic carcinoma (ACC) of the right labium superius oris (upper lip) presented to the hospital with vague epigastric pain. On workup, she was found to have multiple pleural nodules. Histopathology confirmed the diagnosis of metastatic ACC. After 8 months of active surveillance, evidence of disease progression was found and the patient was started on pembrolizumab. Follow-up after starting pembrolizumab showed stable disease with no significant side effects.

Fibroadenoma of Ectopic Breast Tissue in the Groin – A Rare Disease Entity

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S47-S48
Author(s):  
D Emechebe ◽  
M Alshal ◽  
T Rana ◽  
M Agaronov
Keyword(s):  
Breast Tissue ◽  
Tissue Mass ◽  
Ectopic Breast Tissue ◽  
The Common ◽  
Painless Mass ◽  
The Right ◽  
Ectopic Breast ◽  
Urogenital Anomalies ◽  
Superficial Soft Tissue

Abstract Introduction/Objective Ectopic breast tissue (EBT) is a well-documented anomaly of the breast and commonly presents along the embryonic milk line extending between the axilla and groin. Reported incidence of accessory breast is 0.4–6% in females. Pathologies developing in an EBT are reported as a rare entity in the literature. Carcinoma is reported as the common pathology followed by inflammation and fibroadenoma Methods We present a case of 43-year- old female who presented with a painless mass in her right groin for the past year which gradually increased in size. CT abdomen pelvis with contrast showed a 2.2 x 3.0 x 4.4 cm superficial soft tissue mass in the right groin which was suspected to be a lymph node. Further investigation and histopathological report of biopsy showed ectopic breast tissue with admixed chronic inflammation and reactive changes.However, excision of the mass three months later showed showed proloferation of both glandular and stromal elements. Results The tissue from the biopsy was positive for GATA 3, mammoglobin, GCDFP and CD 10 and the histological features on excision was confirmatory of fibroadenoma. Conclusion In conclusion, when tumors or nodules are found along the mammary line, the presence of breast tissue should be considered during the investigation. It is clinically wise to evaluate and screen carefully cases of supernumerary breast for any pathology and for any associated urogenital anomalies such as supernumerary kidneys, polycystic kidneys and renal cell adenocaricnoma. In our case, patient had no associated urogenital anomalies and she is on follow up.

scholarly journals Catamenial pneumothorax with bubbling up on the diaphragmatic defects: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Bo Dong ◽  
Chun-Li Wu ◽  
Yin-liang Sheng ◽  
Bin Wu ◽  
Guan-Chao Ye ◽  
...  
Keyword(s):  
Thoracoscopic Surgery ◽  
Lung Lesion ◽  
Parietal Pleura ◽  
Catamenial Pneumothorax ◽  
Endometrial Cells ◽  
Retrograde Menstruation ◽  
History Of ◽  
The Right ◽  
Thoracic Endometriosis

Abstract Background Catamenial pneumothorax is characterized by spontaneous recurring pneumothorax during menstruation, which is a common clinical manifestation of thoracic endometriosis syndrome. There are still controversies about its pathogenesis. Case presentation A 43-year-old woman with a history of endometriosis came to our hospital due to recurring pneumothorax during menstruation. Uniportal Video-assisted Thoracoscopic Surgery (VATS) exploration was performed on the eve of menstruating. We thoroughly explored the diaphragm, visceral and parietal pleura: The lung surface was scattered with yellowish-brown implants; no bullae were found; multiple diaphragmatic defects were found on the dome. And surprisingly, we caught a fascinating phenomenon: Bubbles were slipping into pleural cavity through diaphragmatic defects. We excised the diaphragmatic lesions and wedge resected the right upper lung lesion; cleared the deposits and flushed the thoracic cavity with pure iodophor. Diaphragmatic lesions confirmed the presence of endometriosis, and interestingly enough, microscopically, endometrial cells were shedding with impending menses. After a series of intraoperative operations and postoperative endocrine therapy, the disease did not recur after a period of follow-up. Conclusion We have witnessed the typical signs of catamenial pneumothorax at the accurate timing: Not only observed the process of gas migration macroscopically, but also obtained pathological evidence of diaphragmatic periodic perforation microscopically, which is especially precious and confirms the existing theory that retrograde menstruation leads to diaphragmatic endometriosis, and the diaphragmatic fenestration is obtained due to the periodic activities of ectopic endometrium.

Ab interno 180-degree trabeculectomy with a dual blade in a patient with refractory primary congenital glaucoma

2021 ◽  
pp. 112067212110104
Author(s):  
Mehmet Talay Koylu ◽  
Fatih Mehmet Mutlu ◽  
Alper Can Yilmaz
Keyword(s):  
Intraocular Pressure ◽  
Female Patient ◽  
Congenital Glaucoma ◽  
Safe Procedure ◽  
Primary Congenital Glaucoma ◽  
History Of ◽  
Kahook Dual Blade ◽  
The Right ◽  
Ab Interno

A 13-year-old female patient with refractory primary congenital glaucoma (PCG) in the right eye who had a history of multiple glaucoma operations underwent ab interno 180-degree trabeculectomy with the Kahook Dual Blade (KDB) targeting the nasal and inferior angles. On postoperative day 1, the intraocular pressure (IOP) of the right eye reduced from 43 to 15 mmHg while on medical therapy. The patient maintained this IOP level throughout the 6-month follow-up. Ab interno KDB trabeculectomy targeting both nasal and inferior angles may be an effective and safe procedure for the treatment of PCG even in eyes with a history of previously failed glaucoma procedures.

scholarly journals Oral myopericytoma: a rare pediatric case report and a review of the literature

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dalit Porat Ben Amy ◽  
Victoria Yaffe ◽  
Rawan Kawar ◽  
Sharon Akrish ◽  
Imad Abu El-Naaj
Keyword(s):  
Subcutaneous Tissue ◽  
Maxillofacial Surgery ◽  
Young Patients ◽  
Conservative Approach ◽  
Case Presentation ◽  
Mesenchymal Neoplasm ◽  
The Right ◽  
Surgery Department ◽  
Histology And Immunohistochemistry

Abstract Background Myopericytoma is a rare mesenchymal neoplasm with perivascular myoid differentiation that arises most commonly in middle adulthood. The lesion generally involves the subcutaneous tissue of distal extremities. Myopericytoma of the oral cavity is extremely rare. Herein we report a case of oral myopericytoma in a pediatric patient, who was treated via a conservative approach with a follow up of 8 years. The case is followed by a literature review. To our knowledge this is the first documented case of oral myopericytoma affecting a patient of such a young age. Case presentation A 6 years old boy was referred to the maxillofacial surgery department for the evaluation of a solitary growth of the right maxillary buccal and palatal gingiva. Histology and immunohistochemistry confirmed the diagnosis of myopericytoma. Conclusions Our patient was treated by local excision with no recurrence in 8 years of follow up. Conservative approach should be considered for the treatment oral myopericytoma especially in young patients in tooth bearing areas.

Dematiaceous fungal invasion of a bandage contact lens

2021 ◽  
Vol 14 (2) ◽  
pp. e240029
Author(s):  
Anirban Dutta ◽  
Sujata Das ◽  
Himanshu Sekhara Behera ◽  
Ruchi Mittal
Keyword(s):  
Contact Lens ◽  
Periodic Acid ◽  
Significant Risk ◽  
Dematiaceous Fungi ◽  
Periodic Acid Schiff ◽  
Bandage Contact Lens ◽  
History Of ◽  
Eye Examination ◽  
The Right

A 61-year-old man presented with a 1-month history of reduced vision, redness and pain in the right eye. Examination revealed a bandage contact lens (BCL) in situ with diffuse, pigmented deposits. On removal, the underlying cornea was found to be clear. He had been prescribed the BCL 6 months ago following a deep-seated corneal foreign body removal and was unable to follow-up subsequently.The BCL was sent for microbiological and histopathological evaluation. The culture revealed growth of Cladosporium spp, a dematiaceous fungi. Periodic acid–Schiff staining revealed infiltration of pigmented fungal filaments into the substance of the BCL.While contact lens deposits are a frequent finding, fungal deposits are seldom noted. Irregular follow-up and improper lens maintenance are significant risk factors for the same. Early identification and subsequent removal of the lens is vital to prevent infection of the underlying ocular structures.

Spontaneous resolution of invasive cerebral aspergillosis following partial resection in a medically untreated infant

2012 ◽  
Vol 10 (1) ◽  
pp. 71-74 ◽  
Author(s):  
Sumit Thakar ◽  
Yasha T. Chickabasaviah ◽  
Alangar S. Hegde
Keyword(s):  
Emergency Services ◽  
Mass Effect ◽  
Cerebral Hemiatrophy ◽  
Right Cerebral Hemisphere ◽  
History Of ◽  
Subcortical Regions ◽  
The Right ◽  
Mri Study ◽  
The Brain

Invasive craniocerebral aspergillosis, often encountered in an immunocompromised setting, is almost uniformly fatal despite radical surgical and medical management, and is frequently a necropsy finding. The authors report a unique, self-resolving clinical course of this aggressive infection in a 10-month-old infant. The infant was brought to the emergency services in altered sensorium with a 1-week history of left-sided hemiparesis, excessive irritability, and vomiting. An MRI study of the brain revealed multiple, heterogeneously enhancing lesions in the right cerebral hemisphere with mass effect. The largest lesion in the frontotemporal cortical and subcortical regions was decompressed on an emergent basis. Histopathological findings were suggestive of invasive aspergillosis, although there was no evidence of the infection in the lungs or paranasal sinuses. Computed tomography–guided aspiration of the remaining lesions and follow-up antifungal therapy were recommended. The parents, however, requested discharge without further treatment. The child was seen at a follow-up visit 3 years later without having received any antifungal treatment. Imaging showed resolution of the infection and features of Dyke-Davidoff-Masson syndrome (cerebral hemiatrophy). This report of invasive cerebral aspergillosis resolving without medical therapy is the first of its kind. Its clinicoradiological aspects are discussed in light of previously reported cases.

Anything but a shocking solution – the effectiveness of Cefaly® in non-migrainous headache

2017 ◽  
pp. 138-139
Author(s):  
Pedro André Kowacs ◽  
Paulo Sergio Faro Santos ◽  
Elcio Juliato Piovesan ◽  
Helio Afonso Ghizoni Teive
Keyword(s):  
Episodic Migraine ◽  
Therapeutic Approaches ◽  
Resting Tremor ◽  
Upper Trapezius ◽  
History Of ◽  
Daily Headache ◽  
The Right ◽  
Migrainous Headache ◽  
Ct And Mri

Background: The transcutaneous supraorbital nerve stimulation with the Cefaly® device has demonstrated safety and efficacy for the prevention of episodic migraine. However, there isn't description of its efficacy in other headaches. Case report: A 78-year-old man was seen because of a 55-year history of daily headache. His medical history revealed Parkinson's disease, dyslipidemia and mild cognitive impairment. Physical examination revealed bradykynesia and asymmetric resting tremor of both arms, the right more affected than the left. There was mild pain on palpation of both upper trapezius muscles adjacent to the occipital bone. Cervical spine X-ray, CT and MRI: no findings. Various therapeutic approaches were done, but without success, so it was decided to prescribe Cefaly®. At his three-month follow-up, he reported an improvement of about 80%. Conclusion: The case described here shows that Cefaly® may be effective in headaches other than migraine.

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