A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature

2016 ◽  
Vol 29 (9) ◽  
Author(s):  
Monica Serrano-Gonzalez ◽  
Sophie Shay ◽  
Juliana Austin ◽  
Dennis R. Maceri ◽  
Pisit Pitukcheewanont
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Germline Mutation ◽  
Parathyroid Carcinoma ◽  
Adolescent Female ◽  
Review Of The Literature ◽  
Pediatric Case ◽  
First Case

AbstractParathyroid carcinoma is a rare cause of primary hyperparathyroidism amongst children, with only nine previously reported cases. The objective of the study was to present the first pediatric case with a germline

Mantle Cell Lymphoma Presenting with Unusual Morphology in an Adolescent Female: A Case Report and Review of the Literature

2006 ◽  
Vol preprint (2007) ◽  
pp. 1
Author(s):  
Kristi Smock ◽  
Hassan Yaish ◽  
Mitchell Cairo ◽  
Mark Lones ◽  
Carlynn Willmore-Payne ◽  
...  
Keyword(s):  
Case Report ◽  
Mantle Cell Lymphoma ◽  
Cell Lymphoma ◽  
Adolescent Female ◽  
Review Of The Literature ◽  
Mantle Cell

Osteoblastoma of the clavicle at the site of a previous fracture—first case report and review of the literature

2019 ◽  
Vol 48 (10) ◽  
pp. 1623-1628
Author(s):  
Adriana C. Moreira ◽  
David I. Suster ◽  
Sterling Ellis Eide ◽  
Daniel I. Rosenthal ◽  
Connie Y. Chang
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Previous Fracture ◽  
First Case

scholarly journals Hemophagocytic Lymphohistiocytosis Complicating Erythroleukemia in a Child with Monosomy 7: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Samin Alavi ◽  
Maryam Ebadi ◽  
Alireza Jenabzadeh ◽  
M. T. Arzanian ◽  
Sh. Shamsian
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Aspiration ◽  
Review Of The Literature ◽  
Monosomy 7 ◽  
Persistent Fever ◽  
First Case ◽  
Erythroid Precursors

Herein, the first case of childhood erythrophagocytosis following chemotherapy for erythroleukemia in a child with monosomy 7 is reported. A 5-year-old boy presented with anemia, thrombocytopenia, and hepatosplenomegaly in whom erythroleukemia was diagnosed. Prolonged pancytopenia accompanied by persistent fever and huge splenomegaly and hepatomegaly became evident after 2 courses of chemotherapy. On bone marrow aspiration, macrophages phagocytosing erythroid precursors were observed and the diagnosis of HLH was established; additionally, monosomy 7 was detected on bone marrow cytogenetic examination. In conclusion, monosomy 7 can lead to erythrophagocytosis associated with erythroid leukemia and should be considered among the chromosomal abnormalities contributing to the association.

scholarly journals Nasal Epithelial Myoepithelial Carcinoma: An Unusual Cause of Epiphora, a Case Report and Review of the Literature

2015 ◽  
Vol 6 (2) ◽  
pp. ar.2015.6.0127 ◽  
Author(s):  
Juliette O. Flam ◽  
Christopher D. Brook ◽  
Rachel Sobel ◽  
John C. Lee ◽  
Michael P. Platt
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Nasal Cavity ◽  
Surgical Excision ◽  
Myoepithelial Carcinoma ◽  
Review Of The Literature ◽  
Nasal Symptoms ◽  
First Case ◽  
Nasal Tumor ◽  
Epithelial Myoepithelial Carcinoma

Introduction Epithelial myoepithelial carcinoma (EMC) of the nasal cavity is a rare tumor, and here we describe the first case of EMC of the nasal cavity presenting with epiphora. A case presentation and review of the literature is provided. Methods A case report is described of a 63-year-old man who presented with unilateral epiphora and was found via a thorough history and physical examination to have a nasal tumor. The physical examination consisted of an ocular examination, including probing and irrigation, and a detailed nasal examination (anterior rhinoscopy, nasal endoscopy). The nasal examination was prompted by the patient's report of concurrent nasal symptoms during history taking. Immunohistochemistry subsequently identified the nasal tumor as EMC. A literature search was performed to gain insights into similar malignancies of the nasal cavity. Results Eight cases of EMC of the nasal cavity were identified in the literature, none of the patients presented with epiphora. The case presented here resulted in resolution of the patient's symptoms and no evidence of disease after surgical excision. Conclusion Epithelial myoepithelial is a rare salivary gland malignancy that can arise in the nasal cavity. Unilateral epiphora with concurrent nasal symptoms should prompt nasal cavity examination for the possibility of an obstructive tumor.

scholarly journals First case of laparoscopic partial splenectomy in a child with hamartoma: Case report and review of the literature

2018 ◽  
Vol 53 ◽  
pp. 140-143 ◽  
Author(s):  
Francesco Serra ◽  
Lorena Sorrentino ◽  
Francesca Cabry ◽  
Diego Biondini ◽  
Pier Luca Ceccarelli ◽  
...  
Keyword(s):  
Case Report ◽  
Partial Splenectomy ◽  
Review Of The Literature ◽  
First Case

scholarly journals Blastic Plasmacytoid Dendritic Cell Neoplasm: A Pediatric Case Report With Review of the Literature

2013 ◽  
Vol 140 (suppl 1) ◽  
pp. A135-A135
Author(s):  
Yanli Ding ◽  
Weiwei Chen ◽  
Zachary O'Neill ◽  
Maurice Barcos ◽  
Amy Sands ◽  
...  
Keyword(s):  
Case Report ◽  
Dendritic Cell ◽  
Plasmacytoid Dendritic Cell ◽  
Review Of The Literature ◽  
Pediatric Case ◽  
Cell Neoplasm

scholarly journals Spinal Intradural, Extramedullary Ependymoma with Astrocytoma Component: A Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Gene M. Weinstein ◽  
Knarik Arkun ◽  
James Kryzanski ◽  
Michael Lanfranchi ◽  
Gaurav K. Gupta ◽  
...  
Keyword(s):  
Back Pain ◽  
Case Report ◽  
Lower Back Pain ◽  
Low Grade ◽  
Review Of The Literature ◽  
Pathologic Evaluation ◽  
Lower Back ◽  
Spinal Lesions ◽  
First Case ◽  
Intradural Extramedullary

Ependymomas are common spinal lesions, with the vast majority arising in an intramedullary location. Several cases have been described in the literature of ependymomas in an intradural, extramedullary location. The authors present a case of a 56-year-old female who presented with several weeks of lower back pain and weakness. MRI revealed an intradural, extramedullary enhancing mass at L1-L2. The mass was successfully resected surgically. Pathologic evaluation revealed a low grade glioma with components of both ependymoma and pilocytic astrocytoma with MUTYH G382D mutation. Extramedullary ependymomas are very rare tumors. To the authors’ knowledge, this is the first case of ependymoma/astrocytoma collision tumors described in an extramedullary location.

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