A family with pheochromocytoma-paraganglioma inherited tumour syndrome

2016 ◽  
Vol 55 (01) ◽  
pp. 34-40 ◽  
Author(s):  
P. Zschieschang ◽  
V. Prasad ◽  
D. Moskopp ◽  
B. Knie ◽  
M. Plotkin

SummaryAim: Hereditary pheochromocytoma-paraganglioma syndromes are characterized by multiple pheochromocytomas (PCC) and paragangliomas (PGLs), inherited in an autosomal dominant manner. Early detection and removal of tumours may prevent or minimize complications related to mass effects and malignant transformation. Having confirmed the diagnosis, it is important to localize the tumours and reveal their extent preoperatively. This study aimed to introduce 18F-DOPA PET/CT as a highly sensitive noninvasive diagnostic tool for early detection of mass lesions in patients with pheochromocytoma-paraganglioma inherited tumour syndrome and to report about its impact on patient management. Patients, methods: We are currently supervising one of the largest documented families in Germany with genetically determined SDHD gene mutation. We performed 18F-DOPA PET/CT in order to detect tumours in asymptomatic gene carriers and enable subsequent surgical therapy. Results: In seven patients undergoing 12 18F-DOPA PET/CT scans 17 lesions have been detected. Three of these lesions, located in the head and neck region, have had no morphologic correlate in CT and one had also no morphologic correlate in MRI. Of the six histologically analyzed lesions five have been tumors (PGL or PCC) and one has been a nodular hyperplasia. This means the 18F-DOPA PET/CT scan in our study group had a sensitivity of 83%. 18F-DOPA PET/CT investigations lead to change in the management in 5/7 studied patients (70%). Conclusion: The benefits of PET/ CT in detection of pheochromocytoma and paraganglioma are well documented, but we are the first to use this technique for screening of a rare hereditary disease (estimated prevalence 0.3/100 000).

2013 ◽  
Vol 137 (11) ◽  
pp. 1560-1568 ◽  
Author(s):  
Jane Zhou ◽  
Diana Bell ◽  
L. Jeffrey Medeiros

Context.—Myeloid sarcoma of the head and neck region can pose diagnostic challenges because of the low frequency of myeloid sarcoma and the potential for tumors of almost any lineage to occur in the head and neck. Objective.—To study the clinicopathologic and immunohistochemical characteristics of myeloid sarcoma in the head and neck region and to review the differential diagnosis. Design.—We searched for cases of myeloid sarcoma involving the head and neck region for a 24-year period at our institution. The medical records and pathology slides were reviewed. Additional immunohistochemical stains were performed. Results.—We identified 17 patients, age 17 to 85 years. Most tumors involved the oral cavity. Myeloid sarcoma was the initial diagnosis in 9 patients (53%); the remaining 8 patients (47%) had a history of bone marrow disease. Immunohistochemical analysis using antibodies specific for lysozyme, CD43, and CD68 were highly sensitive for diagnosis but were not specific. By contrast, assessment for myeloperoxidase in this study was less sensitive but more specific. We also used antibodies specific for CD11c and CD33 in a subset of cases, and these reagents seem helpful as well. Conclusions.—The clinical presentation of myeloid sarcoma involving the head and neck, particularly the mouth, is often nonspecific, and a high degree of suspicion for the possibility of myeloid sarcoma is needed. Immunohistochemistry is very helpful for establishing the diagnosis.


2007 ◽  
Vol 29 ◽  
pp. S412-S413
Author(s):  
E. Hill ◽  
E. D'Hondt ◽  
J.H.G. Crevits ◽  
S. Vanderschueren ◽  
M.-C. Herregods ◽  
...  

2016 ◽  
Vol 54 (1) ◽  
pp. 29-34
Author(s):  
Erkan Eski ◽  
Volkan Akdogan ◽  
Seda Babakurban Turkoglu ◽  
Muhammed Furkan Sokmen ◽  
Fatma Caylakli ◽  
...  

2014 ◽  
Vol 29 (3) ◽  
pp. 197
Author(s):  
Venkatesh Rangarajan ◽  
AmeyaD Puranik ◽  
Nilendu Purandare ◽  
Mukta Ramadwar ◽  
Archi Agrawal ◽  
...  

1995 ◽  
Vol 36 (2) ◽  
pp. 136-141 ◽  
Author(s):  
F. Aspestrand ◽  
A. Kolbenstvedt

A retrospective analysis of the findings at contrast-enhanced CT, MR imaging and angiography in 24 patients with vascular mass lesions and 11 patients with hypervascular tumors in the head and neck region was undertaken. We attempted to find criteria at CT and MR imaging that could aid in differentiating between different lesion categories. Parameters such as contrast enhancement at CT, signal intensities at MR imaging, phleboliths and peritumoral hypervascularity were correlated to clinical presentation, biopsies and angiography. MR imaging was superior to CT and far better than angiography in delineating cavernous hemangiomas. Contrast-enhanced CT may better differentiate between cavernous and capillary hemangiomas than MR. MR imaging clearly differentiated cavernous hemangiomas from hypervascular tumors, but was, like CT, inadequate for distinguishing between capillary hemangiomas and hypervascular tumors. Lymphangiomas and cavernous hemangiomas had similar appearances at CT and MR imaging.


Author(s):  
Qingyun Liu ◽  
Zhenhua Huang ◽  
Sihai Gao

Background: Synovial sarcoma is a rare soft-tissue malignant tumor most commonly occurring in the extremities and head and neck region, and rarely occurring in the pericardium. Case presentation: We report a 7-year-old boy was admitted to the hospital with recurrent fever and chest pain over the past four months. A cardiac magnetic resonance imaging (MRI) revealed a tumor beneath the heart in the pericardial, and we surgical resection it completely. The postoperative histopathological examination resulted in a diagnosis of monophasic spindle cell type synovial sarcoma. After two weeks of hospitalization, the patient was discharged. Three months after discharge, the positron emission tomography (PET/CT) scans did not show any signs of recurrence. Conclusion: Pericardial synovial sarcoma is a rare disease that is detected early, and complete resection improves patient survival. We recommend CT be performed in patients with recurrent fever and sizeable pericardial effusion to rule out possible pericardial synovial sarcoma considering the echocardiography limitations.


2019 ◽  
Vol 48 (10) ◽  
pp. 2239-2248
Author(s):  
Wan Fariza Wan Jamaludin ◽  
Fara Rahidah Husin ◽  
Aini Ab. Aziz ◽  
Mohd Razif Mohd Yunus ◽  
Mawaddah Azman ◽  
...  

Author(s):  
Andrea Masarykova ◽  
Marin Dzongov ◽  
Alexandra Hanicova ◽  
Ingrid Zavacka ◽  
Danijela Scepanovic

<p>Most patients with plasma cell neoplasia have generalized disease at diagnosis. However, some patients have a solitary extramedullary plasmacytomas (SEPs). SEPs are rare, typically solitary tumors comprising approximately 3–5% all plasma cell neoplasms. Almost 90% arise in the head and neck region, especially in the nasal cavity, sinuses, oropharynx, salivary glands and larynx. Solitary extramedullary plasmacytoma (SEP) has a predilection for the male gender and occurs most frequently in patients 50 years and older. SEP often runs an indolent clinical course with a tendency for local recurrence, and progresses to plasma cell myeloma in about 15% of patients. In this paper, we have reported the case of SEP of the naso-oropharynx in 55 years old woman who was presented with a sense of the nasal obstruction. The resection was performed and a mature plasmacytoma was demonstrated histologically. However, ENT examination and positron emission tomography/computed tomography examination with 18-fluorodeoxyglucose (18-FDG PET/CT) have shown that the patient had residual naso-oropharyngeal disease after surgery. A negative bone marrow biopsy and 18-FDG PET/CT have confirmed that it was a solitary extramedullary plasmacytoma of the head and neck region. Following the surgery, intensity modulated radiotherapy (IMRT) was administered. No relapse or progression to the multiple myeloma was recorded during the 3.5 years of follow-up. This case report, which describes a rare tumor of the naso-oropharynx, is expected to improve the recognition and referral of this condition in medical practice. </p>


2015 ◽  
Vol 16 (6) ◽  
pp. 2215-2217 ◽  
Author(s):  
Huo-Qiang Wang ◽  
Long Zhao ◽  
Juan Zhao ◽  
Qiang Wang

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