Primary Renal BCOR-CCNB3 Fusion Sarcoma: A Case Report and Review of the Literature

2021 ◽  
pp. 1-4
Author(s):  
Ming Zhao ◽  
Qi Zhang ◽  
Xianglei He ◽  
Dahong Zhang

<i>BCOR-CCNB3</i> fusion sarcoma is a recently described undifferentiated sarcoma with a novel recurrent inversion of 2 nearby genes <i>BCOR</i> and <i>CCNB3</i>. It typically affects bone and soft tissues of the pelvis, extremity, and paraspinal region and pursues variable clinical course. Primary renal <i>BCOR-CCNB3</i> fusion sarcoma is very rare, and only a small number of cases have been documented. Accurate diagnosis is often challenging, and there is not any agreement for the treatment of this entity due to its rarity. We report findings of primary renal <i>BCOR-CCNB3</i> fusion sarcoma in a 16-year-old boy with a brief review of the literature.

2015 ◽  
Vol 24 (2) ◽  
pp. 235-239 ◽  
Author(s):  
Jan Ulrych ◽  
Vladimir Fryba ◽  
Helena Skalova ◽  
Zdenek Krska ◽  
Tomas Krechler ◽  
...  

Heterotopic pancreas is a congenital pathology of the gastrointestinal tract, particularly rare in the esophagus. Both symptomatology and findings during preoperative examinations are non-specific and therefore do not often lead to an accurate diagnosis, which is usually revealed only by histopathological assessment of a resected specimen. We report an unusual case of a patient suffering from severe dysphagia caused by heterotopic pancreas in the distal esophagus with chronic inflammation and foci of premalignant changes. This article also reviews 14 adult cases of heterotopic pancreas in the esophagus previously reported in the literature, with the aim of determining the clinical features of this disease and possible complications including rare premalignant lesions and malignant transformation. Especially with regard to those complications, we suggest that both symptomatic and incidentally found asymptomatic lesions should be resected.


2004 ◽  
Vol 128 (2) ◽  
pp. 210-213 ◽  
Author(s):  
Peter M. Voorhees ◽  
Kathryn A. Carder ◽  
Scott V. Smith ◽  
Lanier H. Ayscue ◽  
Kathleen W. Rao ◽  
...  

Abstract Follicular lymphoma is an indolent lymphoma characterized by the (14;18) translocation, which leads to aberrant expression of Bcl-2. Translocations involving 8q24 are most commonly associated with Burkitt lymphoma and result in c-Myc overexpression. We report a case of follicular lymphoma of predominant small cleaved-cell type (grade 1) associated with both a t(14;18)(q32;q21) and a t(8;22)(q24;q11). The 8q24 translocation predicted an aggressive clinical course, as the lymphoma transformed into acute lymphoblastic leukemia within a year of initial diagnosis. Routine cytogenetic analysis is recommended at initial diagnosis of follicular lymphoma to better identify abnormalities that may predict prognosis and influence therapy.


F1000Research ◽  
2021 ◽  
Vol 9 ◽  
pp. 1502
Author(s):  
Ashwag Aloyouny ◽  
Hamad Albagieh ◽  
Soad Mansour ◽  
Fahmy Mobarak

Buccal bifurcation cyst (BBC) is a rare inflammatory odontogenic cyst, which commonly affects children in the first decade of life. We report a case of a seven-year-old healthy boy with bilateral BBC, which involved unerupted incomplete permanent mandibular first molars. A review of the literature in English language revealed few similar cases. We reviewed 16 manuscripts of bilateral mandibular BBC, reporting a total of 20 cases since 1970. The clinical features of bilateral mandibular BBC summarized here could assist specialists with an accurate diagnosis and provide patients with optimal management.


2005 ◽  
Vol 129 (10) ◽  
pp. 1322-1325
Author(s):  
Samson W. Fine ◽  
North J. Davis ◽  
Lawrence E. Lykins ◽  
Elizabeth Montgomery

Abstract Myofibromas are benign mesenchymal neoplasms of myofibroblastic origin. Most present as solitary lesions at any age, but the presentation of multiple lesions in newborns and infants is known as infantile myofibromatosis. Multicentric lesions commonly involve soft tissues and bone and may involve internal organs, where they are associated with an unfavorable prognosis. Solitary lesions involving the viscera are rare. We report a case of a 3-month-old male infant with a left testicular mass detected during an evaluation for suspected torsion. The patient underwent orchiectomy, revealing a nodular mass with grossly evident foci of necrosis. Histologically, the lesion exhibited small fascicles of plump eosinophilic, smooth muscle actin–positive spindle cells, alternating with larger areas of primitive cells with vesicular nuclei and scant cytoplasm arranged around a hemangiopericytoma-like vasculature. To our knowledge, this is the first report of a myofibroma localized within the testis.


1998 ◽  
Vol 77 (1) ◽  
pp. 51-55 ◽  
Author(s):  
Jose A. Bonilla ◽  
Michael P. Pizzuto ◽  
Linda S. Brodsky

Aplasia of the epiglottis is a rare laryngeal anomaly. We present a case of absence of the epiglottis in a child whose clinical course has been followed for nine years. She required a tracheostomy at two years of age for obstructive sleep apnea which resulted in heart failure; she was eventually decannulated at age seven. This case report highlights the clinical challenges faced in the identification and treatment of the sequelae of this defect. Both endoscopic and computed tomography (CT) documentation are provided. Embryological development and a review of the literature are also discussed.


2012 ◽  
Vol 16 (6) ◽  
pp. 438-441 ◽  
Author(s):  
Efstathios Rallis ◽  
Chrysovalantis Korfitis

Background: Granulomatous rosacea is considered a clinical variant of rosacea and is characterized by hard yellow, brown, red or flesh-colored cutaneous papules or nodules that may be severe and may lead to scarring. The lesions typically appear on the cheeks and periorificial lesions; they are monomorphic in each patient and sit on relatively normal-appearing skin. The diagnosis should be established by excluding other granulomatous disorders and rosacea-like eruptions such as sarcoidosis, tuberculosis, and lupus miliaris disseminatus faciei. The clinical course is chronic and unpredictable, and management can be very difficult. Case Report: We report the case of a 28-year-old female with granulomatous rosacea who responded successfully to oral isotretinoin. No recurrence was noticed 6 months after the completion of treatment. Renseignements de base: La rosacée granulomateuse est considérée comme une variante clinique de la rosacée et est caractérisée par la présence de papules cutanées jaunes, brunes, ou fleshed-colored rouges dures ou par de nodules qui peuvent être graves et qui peuvent causer des cicatrices. Les lésions sont généralement localisées aux joues et sur les lésions péri-orificielles; elles sont monomorphes chez chaque patient individuel et elles siègent sur une peau d'apparence relativement normale. Le diagnostic doit être établi en excluant les autres troubles granulomateux et les éruptions rosacéiformes comme la sarcoïdose, la tuberculose, et la tuberculide papulonodulaire. L'évolution clinique est chronique et imprévisible, et la gestion peut être très difficile. Rapport de cas: Nous rapportons le cas d'une femme âgée de 28 ans présentant une rosacée granulomateuse qui a été traité avec succès avec l'isotrétinoïne administrée par voie orale. Aucune récidive n'a été observée 6 mois après la fin du traitement.


2015 ◽  
Vol 10 (3) ◽  
pp. 1565-1568 ◽  
Author(s):  
LI GONG ◽  
WEN-DONG ZHANG ◽  
XIAO-RONG MU ◽  
XIU-JUAN HAN ◽  
LI YAO ◽  
...  

2018 ◽  
Vol 30 (6) ◽  
pp. 951-954 ◽  
Author(s):  
Pompei Bolfa ◽  
Lusan DellaGrotte ◽  
Teri Weronko ◽  
Anibal G. Armien

We report a case of cutaneous epithelioid hemangiosarcoma in a dog in which the majority of the neoplastic cells displayed histologic and ultrastructural features similar to those seen in granular cell tumors (GCTs). This intersection of hemangiosarcoma and granular cell change adds to the argument that GCTs are heterogeneous in histologic origin and underlines the fact that pathologists should not consider all GCTs as a single entity. The combination of histology in typical areas of the tumor with ultrastructural changes and the correct immunohistochemical markers can facilitate the accurate diagnosis of tumors with granular cell differentiation. Besides characteristic intracytoplasmic PAS-positive granules and ultrastructural proteinaceous accumulation within single membrane vesicles (presumably lysosomes and phagolysosomes), we suggest the following combination of markers for the diagnosis of granular cell angiosarcoma and/or hemangiosarcoma: vimentin positive, NSE and/or S100 negative, CD31 positive. We propose that the histologic granular appearance represents a metabolic defect of the neoplastic cells, which supports variability in cell origin for granular cell differentiation.


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