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Uncommon Syndromes in CT: Syndromes (miscellaneous) Imaging Pearls - Learning Modules | CT Scanning | CT Imaging | CT Scan Protocols - CTisus
Imaging Pearls ❯ Uncommon Syndromes in CT ❯ Syndromes (miscellaneous)

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  • “Li-Fraumeni syndrome (LFS) is an autosomal dominant condition manifested by multiple cancers at an unusually early age, including sarcomas, breast cancers, brain tumors, hematologic cancers, and adrenal cortical carcinomas among the most common tumors . Germline mutations in the tumor suppressor gene TP53 (chromosome 17p13), which helps in the elimination of abnormal DNA-containing cells during cell cycle, are responsible for the development of LFS. Given the high penetrance of the mutated TP53 gene, the lifetime risk of cancer is estimated to be about 90% by the age 60 years in women and 75% in men.”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “Patients with LFS show an increased risk of radiation-induced cancers; radiation therapy is commonly avoided in these patients.Sarcomas account for 25% of all tumors in LFS. All types of bone and soft tissue sarcomas can develop except Ewing sarcoma; osteosarcomas are the most common sarcomas.Breast cancer is common in premenopausal women and shows amplification of HER-2 at the molecular level. High-grade gliomas and choroid plexus carcinomas can present either in childhood or in young adults.Approximately 10% of LFS carriers may develop adrenal cortical carcinomas.”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant disorder with high penetrance, caused by germline mutations in the E-cadherin (CDH1) tumor suppressor gene (chromosome 16q22).The lifetime risk of an aggressive diffuse type of gastric cancer is found in 70% of men and 55% of women, with an average age of 38 years.Gastric cancers are often multifocal and located beneath an intact mucosal surface and often signet-ring type with tumor cells containing abundant mucin.About 40% of women with CDH1 mutations may develop lobular breast cancer during their lifetimes. At imaging, diffuse irregular gastric wall thickening (linitis plastica appearance) with lymphadenopathy, invasion into adjacent organs, and distant metastatic disease is the characteristic feature of HDGC, especially if the patient is less than 40 years of age .”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “von Hippel-Lindau disease (VHL) is an autosomal dominant disorder that results from germline mutations in the VHL tumor suppressor gene (chromosome 3p25) and is characterized by benign and malignant tumors in multiple organs.The VHL gene plays a pivotal role in the regulation of the intracellular oxygen-sensing pathway. Inactivation of this gene causes unbridled upregulation of multiple somatic and vascular growth factors, including vascular endothelial growth factor, leading to the development of vascular tumors.Cerebellar and spinal cord hemangioblastomas, retinal angiomas, endolymphatic sac tumors, clear cell RCCs, complex renal cysts, pheochromocytomas, pancreatic cysts and pancreatic neuroendocrine tumors (PNETs), and epididymal cystadenomas are common neoplasms in VHL syndrome . The pancreas (35%–77%), central nervous system (CNS) (44%–72%), and kidneys (25%–60%) are the most commonly involved organs in VHL syndrome.”


    Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disorder characterized by the development of cutaneous fibrofolliculomas, bilateral pulmonary cysts, and multiple renal tumors.Germline mutations in the tumor suppressor Folliculin (FLCN) gene located on chromosome 17p11 are responsible for BHD development. The folliculin protein is shown to modulate the AKT-mTOR pathway, which is essential for cell growth.Fibrofolliculomas are the most common clinical findings in patients BHD; they can occur in up to 90% of patients more than 25 years of age and appear as whitish papules on the face, neck, and upper torso .”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “About 70% to 85% of individuals with BHD develop multiple pulmonary cysts of varying sizes and shape, which tend to be located in the lower lobes in basilar and mediastinal regions with numerous nonenhancing septations in the larger cysts on CT. About 30% of patients with BHD present with spontaneous pneumothorax from a ruptured lung cyst by the average age of 36 years.Renal neoplasms may develop in 12% to 34% of patients, with a mean age of presentation at 50 years. Renal tumors are often bilateral and multifocal with hybrid oncocytic/chromophobe RCCs and chromophobe RCCs comprising up to 85% of them .”


    Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “PNETs, the most common pancreatic neoplasms, are responsible for significant mortality and morbidity in MEN1 syndrome. PNETs include gastrinomas (more than half of the cases), insulinomas, and nonfunctioning tumors.Gastrinomas may be seen in the duodenal wall. At CT/MR imaging, intense contrast enhancement during the arterial phase of multiphase CT/MR imaging is one of the characteristic features of PNETs Whole-body imaging techniques such as somatostatin receptor (octreotide scan) imaging and fluorodeoxyglucose-PET scan help in detecting distant metastases and assessing treatment response .Gastrin hypersecretion from duodenal/pancreatic gastrinomas can result in Zollinger-Ellison syndrome, which is characterized on imaging by diffuse, enhancing gastric fold thickening, multiple gastric/duodenal/jejunal ulcers, and esophageal strictures from reflux disease.”


    Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “MEN2 syndrome is caused by gain-of-function mutations of RET proto-oncogene, located on chromosome 10q11, which encodes the receptor tyrosine kinase and includes 3 subtypes: MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC).Also known as Sipple syndrome, MEN2A is the most common type, characterized by the development of medullary thyroid carcinoma (MTC) (100%), pheochromocytoma (>50%), and primary hyperparathyroidism (15%–30%).MTC is usually the first manifestation of MEN2A and can appear between 5 and 25 years of age. Cutaneous lichen amyloidosis and Hirschsprung disease are rare clinical findings in MEN2A. MEN2B is the least common and most aggressive subtype, characterized by the earlier occurrence of most aggressive MTC, multiple neuromas, and the diffuse ganglioneuromatosis of the gastroenteric mucosa.”


    Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “Hereditary pheochromocytoma and paraganglioma syndromes (PGLs) are a group of autosomal dominant disorders characterized by the development of multiple paragangliomas and pheochromocytomas.PGLs are caused by germline mutations in the genes encoding for 4 subunits of the succinate dehydrogenase (SDH) mitochondrial complex (SDHA, SDHB, SDHC, and SDHD), which is a major component of the Krebs cycle and electron transport chain.There are 4 types of PGL syndromes: types 1, 2, 3, and 4, which result from mutations of SDHD, SDHAF2 (helps in flavination of subunit A), SDHC, and SDHB genes respectively. Among them, PGL type 1 and 4 are common and are discussed later.”


    Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “PGL1 syndrome is caused by inactivating mutations in the SDHD gene (chromosome 11q23) and is associated with the development of multifocal, bilateral head and neck paragangliomas (parasympathetic chain) in up to 80% of patients, with a mean age of presentation of 30 years.  Most of these tumors are benign and nonsecretory so individuals with PGL1 are asymptomatic and commonly diagnosed on imaging studies.At CT/MR imaging, intensely enhancing masses in the carotid body, along with the vagal nerve branches, and jugular foramina are the characteristic features of PGL1.”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by inactivating mutations of the TSC1 gene (chromosome 9q34, encodes hamartin) and/or TSC 2 genes (chromosome 16p13, encodes tuberin); tuberin-hamartin complex functions as a tumor suppressor by suppression of the mTOR pathway.CNS lesions in TSC are the primary cause of mortality and morbidity and include cortical and cerebellar tubers, radial migration lines, subependymal nodules, and subependymal giant cell astrocytomas. Gadolinium-enhanced MR imaging of the brain is the imaging modality of choice for diagnosis, screening, and monitoring of intracranial lesions.”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “Renal lesions are seen in up to 60% of patients with TSC and include angiomyolipomas (AMLs) and renal cysts .Renal AMLs larger than 4 cm or with intralesional aneurysms larger than 5 mm carry increased risk of spontaneous rupture and require prophylactic embolization.Other lesions in TSC include cardiac rhabdomyomas, lung/retroperitoneal lymphangioleiomyomatosis, hepatic AMLs, and sclerotic lesions in the bones.Recent studies suggest that a spectrum of distinctive renal tumors occurs in patients with TSC; tumors occur at a younger age compared with the general population.”

    
Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
  • “There is a wide spectrum of hereditary cancer syndromes that are characterized by distinctive genophenotypic manifestations. Based on the characteristic imaging findings, the radiologist may be the first physician to suspect a syndromic basis of distinctive multisystem tumors in a given patient leading to accurate diagnosis. Radiologists play a pivotal role in the screening, initial diagnosis, management, and long-term surveillance of patients with hereditary cancer syndromes and their at-risk family members. Improved knowledge of screening and surveillance guidelines of common hereditary cancer syndromes permits optimal patient care.”


    Imaging and Screening of Hereditary Cancer Syndromes 
Venkata S. Katabathina et al.
Radiol Clin N Am 55 (2017) 1293–1309
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