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Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
DOI: 10.55418/9781933477251-4
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
.... Patients with the nonfamilial sporadic form of PPNAD are young (always less than 30 years of age) and may be infants ( 633 , 634 ). Carney Complex. Carney complex or syndrome is an autosomal dominantly inherited multiple neoplasia syndrome characterized by spotty skin pigmentation (pigmented lentigines...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
DOI: 10.55418/9781933477251-3
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
... steps in thyroid hormone biosynthesis and secretion have been described. Various mutations in the NIS, TPO, DUOX2, TG IYF/DEHAL1, and PDS genes have been primarily implicated ( 660 , 661 ). Most of these mutations are nonsyndromic and familial, and are inherited in an autosomal...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
DOI: 10.55418/9781933477251-2
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
...: RET mutations in inherited medullary thyroid carcinoma . Cancer Res   1996 ; 56 : 1241 - 3 . 144. Marsh   DJ , Learoyd   DL , Andrew   SD , et al . Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma . Clin Endocrinol (Oxf)   1996 ; 44 : 249 - 57...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
DOI: 10.55418/9781933477251-1
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
... and nonsense mutations, small deletions with frameshift, and partial and complete gene deletions of LHX3 have been identified ( 181 – 183 ). Inheritance of LHX3 deficiency syndrome is autosomal recessive. As such, all individuals with these mutations are homozygous and have CPHD, but in most...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 12
Published: 01 August 2022
DOI: 10.55418/9781933477220-06
ISBN-10: 1-933477-22-9
ISBN: 978-1-933477-22-0
... on chromosome 17q24.2 and inherited in an autosomal dominant fashion. Those cases with this mutation are now classified as Carney complex type 1, whereas the remaining cases (Carney complex type 2) map to a 10 Mb locus at chromosome 2p16 ( 162 ). The clinical and pathologic features...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 12
Published: 01 August 2022
DOI: 10.55418/9781933477220-04
ISBN-10: 1-933477-22-9
ISBN: 978-1-933477-22-0
.... A population-based study . Int J Cancer   1996 ; 66 : 627 - 31 . 66. Dieckmann   KP , Becker   T , Jonas   D , Bauer   HW . Inheritance and testicular cancer. Arguments based on a report of 3 cases and a review of the literature . Oncology   1987 ; 44 : 367 - 77 . 67. Loveday...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 11
Published: 01 June 2022
DOI: 10.55418/9781933477190-3
ISBN-10: 1-933477-19-9
ISBN: 978-1-933477-19-0
... mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma . Cancer Lett   2017 ; 405 : 38 – 45 . 25. Ascoli   V , Cozzi   I , Vatrano   S , et al . Mesothelioma families without inheritance of a BAP1 predisposing mutation . Cancer Genet   2016...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-10
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... GENETIC DISORDERS OF IRON OVERLOAD Disease Type Inheritance Chromosomal Location OMIM Gene Locus #/Phenotype # Gene Gene Product HFE-related hemochromatosis 1 AR 6p22.2 613609/235200 HFE Hereditary hemochromatosis protein Juvenile hereditary hemochromatosis 2A...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-6
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... MAJOR INHERITED DEFECTS IN BILIRUBIN METABOLISM Disease Gene Bilirubin Elevations Key Clinical and Histologic Findings Minimal to Mild Disease  Dubin–Johnson syndrome ABCC2 Conjugated Episodes of jaundice, otherwise asymptomatic Histology: 1) bland lobular cholestasis...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-14
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... Inherited genetic disease HNF-beta mutations Mitochondropathies Congenital disorder of glycosylation Alstrom syndrome (inherited disorder of cilia) Cholesteryl ester storage disease Many other rare conditions Teen-aged and young adults Wilson disease Quantitative copper...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-13
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... transporter genes, such as those for familial intrahepatic cholestasis protein-1 (FIC1), bile salt excretory protein (BSEP), and multidrug resistance protein 3 (MDR3), among others, have been identified in ICP and explain the familial tendency of the disorder ( 123 ). In some kindreds, ICP is inherited...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-12
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
...Table 12-2 MAJOR CAUSES OF BUDD-CHIARI SYNDROME Common Causes Uncommon Causes Inherited thrombophilic disorders Inflammatory conditions  Factor V Leiden mutation  Behcet disease  Prothrombin mutation  Hypereosinophilic syndrome  Antithrombin III deficiency  Granulomatous...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-4
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... granulomatous disease is an inherited primary immunodeficiency in which neutrophils are unable to produce normal amounts of hydrogen peroxide, leading to recurrent bacterial and fungal infections. The most common inheritance pattern is X-linked (thus males are affected), but autosomal recessive patterns...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-1
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... , Verrips   A , Sistermans   E , Mann   A , Mieli-Vergani   G , Wevers   R . Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis . J Inherit Metab Dis   2002 ; 25 : 501 – 13 . 126. Setchell   KD , Heubi   JE...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-7
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
.... If there is advanced fibrosis, a more specific disease such as PBC, PSC, or biliary obstruction is commonly identified. In the pediatric and young adult population, inherited bile salt deficiencies should also be excluded. Some adult cases of MDR3 deficiency can also present with ductopenia ( 57 ). In the setting...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-9
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... and alcohol use. The most common causes of microvesicular steatosis are acute alcohol-related injury, medication effects, and rare inherited metabolic conditions. Overall, the macrovesicular pattern is at least 100 times more common than the microvesicular pattern. In fact, many pathologists go their entire...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
DOI: 10.55418/9781933477183-11
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... hepatic metastases of well-differentiated neuroendocrine tumors without demonstrable residual extrahepatic disease ( 2 ). In children, the most common indications are biliary atresia (30 to 35 percent) and other cholestatic diseases, inherited metabolic disorders, hepatoblastoma, and rarely, acute liver...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 9
Published: 01 November 2021
DOI: 10.55418/9781933477176-5
ISBN-10: 1-933477-17-2
ISBN: 978-1-933477-17-6
... of two cases . APMIS   2010 ; 118 : 407 - 12 . 28. Baydar   D , Amin   MB , Epstein   JI . Osteoclast-rich undifferentiated carcinomas of the urinary tract . Mod Pathol   2006 ; 19 : 161 - 71 . 29. Phelan   A , Lopez-Beltran   A , Montironi   R , et al .  Inherited...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 9
Published: 01 November 2021
DOI: 10.55418/9781933477176-3
ISBN-10: 1-933477-17-2
ISBN: 978-1-933477-17-6
... and schistosomiasis . East Afr Med J   1982 ; 59 : 345 - 51 . 74. Johansson   SL , Cohen   SM . Epidemiology and etiology of bladder cancer . Semin Surg Oncol   1997 ; 13 : 291 - 8 . 75. Phelan   A , Lopez-Beltran   A , Montironi   R , et al .  Inherited forms of bladder cancer...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 9
Published: 01 November 2021
DOI: 10.55418/9781933477176-2
ISBN-10: 1-933477-17-2
ISBN: 978-1-933477-17-6
... described in the hyperparathyroidism-jaw tumor syndrome (OMIM #145001 hyperparathyroidism 2 with jaw tumors) as a result of germline mutations in the cell division cycle 73 gene (HUGO-approved gene symbol: CDC73, previously known as HRPT2) ( 569 , 570 ). The syndrome is inherited...