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CC BY 4.0 · Indian J Med Paediatr Oncol 2023; 44(03): 287-301
DOI: 10.1055/s-0042-1760325
Review Article

Imaging Recommendations for Diagnosis, Staging, and Management of Hereditary Malignancies

Jinita Majithia 
1   Department of Radiodiagnosis, Tata Memorial Hospital, Mumbai, Maharashtra, India
,
Abhishek Mahajan
2   Department of Radiology, The Clatterbridge Cancer Centre NHS Foundation Trust, Liverpool, United Kingdom
,
Richa Vaish 
3   Department of Head and Neck Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India
,
Gagan Prakash 
4   Department of Uro-Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India
,
Saket Patwardhan
1   Department of Radiodiagnosis, Tata Memorial Hospital, Mumbai, Maharashtra, India
,
Rajiv Sarin 
5   Department of Radiation Oncology and In-Charge Cancer Genetics, Tata Memorial Hospital and Advanced Centre for Treatment Research and Education in Cancer (ACTREC), Mumbai, Maharashtra, India
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Abstract

Hereditary cancer syndromes, characterized by genetically distinct neoplasms developing in specific organs in more than one family members, predispose an individual to early onset of distinct site-specific tumors. Early age of onset, multiorgan involvement, multiple and bilateral tumors, advanced disease at presentation, and aggressive tumor histology are few characteristic features of hereditary cancer syndromes. A multidisciplinary approach to hereditary cancers has led to a paradigm shift in the field of preventive oncology and precision medicine. Imaging plays a pivotal role in the screening, testing, and follow-up of individuals and their first- and second-degree relatives with hereditary cancers. In fact, a radiologist is often the first to apprise the clinician about the possibility of an underlying hereditary cancer syndrome based on pathognomonic imaging findings. This article focuses on the imaging spectrum of few common hereditary cancer syndromes with specific mention of the imaging features of associated common and uncommon tumors in each syndrome. The screening and surveillance recommendations for each condition with specific management approaches, in contrast to sporadic cases, have also been described.

Keywords

hereditary cancer syndromes - radiogenomics - cancer - surveillance guidelines


Publikationsverlauf

Artikel online veröffentlicht:
01. März 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Rutman AM, Kuo MD. Radiogenomics: creating a link between molecular diagnostics and diagnostic imaging. Eur J Radiol 2009; 70 (02) 232-241
    CrossrefPubMedSuche in Google Scholar
  • 2 Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol 2005; 23 (02) 276-292
    CrossrefPubMedSuche in Google Scholar
  • 3 Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004; 23 (38) 6445-6470
    CrossrefPubMedSuche in Google Scholar
  • 4 Torre LA, Bray F, Siegel RL, Ferlay J, Lortet-Tieulent J, Jemal A. Global cancer statistics, 2012. CA Cancer J Clin 2015; 65 (02) 87-108
    Suche in Google Scholar
  • 5 Rajkumar T, Soumittra N, Vidubala E. et al. Organization and running of the first comprehensive hereditary cancer clinic in India. Hered Cancer Clin Pract 2005; 3 (04) 165-170
    CrossrefPubMedSuche in Google Scholar
  • 6 Vogelstein B, Kinzler KW. Cancer genes and the pathways they control. Nat Med 2004; 10 (08) 789-799
    CrossrefPubMedSuche in Google Scholar
  • 7 European Society of Radiology (ESR). Medical imaging in personalised medicine: a white paper of the research committee of the European Society of Radiology (ESR). Insights Imaging 2015; 6 (02) 141-155
    CrossrefPubMedSuche in Google Scholar
  • 8 Kuhlen M, Borkhardt A. Cancer susceptibility syndromes in children in the area of broad clinical use of massive parallel sequencing. Eur J Pediatr 2015; 174 (08) 987-997
    CrossrefPubMedSuche in Google Scholar
  • 9 Kuchenbaecker KB, Hopper JL, Barnes DR. et al; BRCA1 and BRCA2 Cohort Consortium. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017; 317 (23) 2402-2416
    CrossrefPubMedSuche in Google Scholar
  • 10 Antoniou A, Pharoah PD, Narod S. et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72 (05) 1117-1130
    CrossrefPubMedSuche in Google Scholar
  • 11 Mavaddat N, Barrowdale D, Andrulis IL. et al; HEBON, EMBRACE, GEMO Study Collaborators, kConFab Investigators, SWE-BRCA Collaborators, Consortium of Investigators of Modifiers of BRCA1/2. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 2012; 21 (01) 134-147
    CrossrefPubMedSuche in Google Scholar
  • 12 Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. Lancet 1994; 343 (8899): 692-695
    CrossrefPubMedSuche in Google Scholar
  • 13 Chen Y, Thompson W, Semenciw R, Mao Y. Epidemiology of contralateral breast cancer. Cancer Epidemiol Biomarkers Prev 1999; 8 (10) 855-861
    PubMedSuche in Google Scholar
  • 14 Graeser MK, Engel C, Rhiem K. et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009; 27 (35) 5887-5892
    CrossrefPubMedSuche in Google Scholar
  • 15 Tai YC, Domchek S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2007; 99 (23) 1811-1814
    CrossrefPubMedSuche in Google Scholar
  • 16 Mitchell G, Antoniou AC, Warren R. et al. Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res 2006; 66 (03) 1866-1872
    CrossrefPubMedSuche in Google Scholar
  • 17 Tice JA, Cummings SR, Ziv E, Kerlikowske K. Mammographic breast density and the Gail model for breast cancer risk prediction in a screening population. Breast Cancer Res Treat 2005; 94 (02) 115-122
    CrossrefPubMedSuche in Google Scholar
  • 18 Wernli KJ, Ichikawa L, Kerlikowske K. et al. Surveillance breast MRI and mammography: comparison in women with a personal history of breast cancer. Radiology 2019; 292 (02) 311-318
    CrossrefPubMedSuche in Google Scholar
  • 19 Saadatmand S, Geuzinge HA. et al. FaMRIsc study group. MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomized, controlled trial. Lancet Oncol 2019; 20 (08) 1136-1147
    CrossrefPubMedSuche in Google Scholar
  • 20 Raikhlin A, Curpen B, Warner E, Betel C, Wright B, Jong R. Breast MRI as an adjunct to mammography for breast cancer screening in high-risk patients: retrospective review. AJR Am J Roentgenol 2015; 204 (04) 889-897 Erratum in: AJR Am J Roentgenol. 2015 May;204(5):1137
    CrossrefPubMedSuche in Google Scholar
  • 21 Girolimetti G, Perrone AM, Santini D. et al. BRCA-associated ovarian cancer: from molecular genetics to risk management. BioMed Res Int 2014; 2014: 787143
    CrossrefPubMedSuche in Google Scholar
  • 22 Swisher EM, Sakai W, Karlan BY, Wurz K, Urban N, Taniguchi T. Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res 2008; 68 (08) 2581-2586
    CrossrefPubMedSuche in Google Scholar
  • 23 Bolton KL, Chenevix-Trench G, Goh C. et al; EMBRACE, kConFab Investigators, Cancer Genome Atlas Research Network. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA 2012; 307 (04) 382-390
    CrossrefPubMedSuche in Google Scholar
  • 24 Evans DG, Gaarenstroom KN, Stirling D. et al. Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet 2009; 46 (09) 593-597
    CrossrefPubMedSuche in Google Scholar
  • 25 Stirling D, Evans DG, Pichert G. et al. Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system. J Clin Oncol 2005; 23 (24) 5588-5596
    CrossrefPubMedSuche in Google Scholar
  • 26 Toss A, Molinaro E, Sammarini M. et al. Hereditary ovarian cancers: state of the art. Minerva Med 2019; 110 (04) 301-319
    CrossrefPubMedSuche in Google Scholar
  • 27 Bougeard G, Renaux-Petel M, Flaman JM. et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol 2015; 33 (21) 2345-2352
    CrossrefPubMedSuche in Google Scholar
  • 28 Chompret A, Brugières L, Ronsin M. et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000; 82 (12) 1932-1937
    PubMedSuche in Google Scholar
  • 29 Bougeard G, Sesboüé R, Baert-Desurmont S. et al; French LFS working group. Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 2008; 45 (08) 535-538
    CrossrefPubMedSuche in Google Scholar
  • 30 Hendrickson PG, Luo Y, Kohlmann W, Schiffman J, Maese L, Bishop AJ, Lloyd S, Kokeny KE, Hitchcock YJ, Poppe MM, Gaffney DK, Tao R. Radiation therapy and secondary malignancy in Li-Fraumeni syndrome: A hereditary cancer registry study. Cancer Med 2020; Nov; 9 (21) 7954-7963
    CrossrefPubMedSuche in Google Scholar
  • 31 Villani A, Shore A, Wasserman JD. et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 2016; 17 (09) 1295-1305
    CrossrefPubMedSuche in Google Scholar
  • 32 Hendrickson PG, Luo Y, Kohlmann W. et al. Radiation therapy and secondary malignancy in Li-Fraumeni syndrome: a hereditary cancer registry study. Cancer Med 2020; 9 (21) 7954-7963
    CrossrefPubMedSuche in Google Scholar
  • 33 Nogueira ST, Lima EN, Nóbrega AF. et al. 18F-FDG PET-CT for surveillance of Brazilian patients with Li-Fraumeni syndrome. Front Oncol 2015; 5: 38
    CrossrefPubMedSuche in Google Scholar
  • 34 Ballinger ML, Best A, Mai PL. et al. Baseline surveillance in li-fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis. JAMA Oncol 2017; 3 (12) 1634-1639
    CrossrefPubMedSuche in Google Scholar
  • 35 Villani A, Tabori U, Schiffman J. et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 2011; 12 (06) 559-567
    CrossrefPubMedSuche in Google Scholar
  • 36 O'Neill AF, Voss SD, Jagannathan JP. et al. Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: a single institution pilot study. Pediatr Blood Cancer 2018; 65 (02) e26822
    CrossrefPubMedSuche in Google Scholar
  • 37 Tabori U, Shlien A, Baskin B. et al. TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol 2010; 28 (12) 1995-2001
    CrossrefPubMedSuche in Google Scholar
  • 38 Orr BA, Clay MR, Pinto EM, Kesserwan C. An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol 2020; 139 (04) 669-687
    CrossrefPubMedSuche in Google Scholar
  • 39 Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG. European Reference Network GENTURIS. Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet 2020; 28 (10) 1379-1386
    CrossrefPubMedSuche in Google Scholar
  • 40 Farhadi F, Nikpanah M, Paschall AK. et al. Clear cell renal cell carcinoma growth correlates with baseline diffusion-weighted MRI in Von Hippel-Lindau disease. Radiology 2020; 295 (03) 583-590
    CrossrefPubMedSuche in Google Scholar
  • 41 Ganeshan D, Menias CO, Pickhardt PJ. et al. Tumors in von Hippel-Lindau syndrome: from head to toe-comprehensive state-of-the-art review. Radiographics 2018; 38 (03) 849-866
    CrossrefPubMedSuche in Google Scholar
  • 42 Jilg CA, Neumann HP, Gläsker S. et al. Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up. Fam Cancer 2012; 11 (03) 387-394
    CrossrefPubMedSuche in Google Scholar
  • 43 Filling-Katz MR, Choyke PL, Oldfield E. et al. Central nervous system involvement in Von Hippel-Lindau disease. Neurology 1991; 41 (01) 41-46
    CrossrefPubMedSuche in Google Scholar
  • 44 Eisenhofer G, Lenders JW, Timmers H. et al. Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin Chem 2011; 57 (03) 411-420
    CrossrefPubMedSuche in Google Scholar
  • 45 Mori H, Wakabayashi H, Saito S. et al. Comparison of detectability between WB-MRI and MIBG images in patients with metastatic pheochromocytoma and paraganglioma. J Nucl Med 2021; 62: 1111
    Suche in Google Scholar
  • 46 Charlesworth M, Verbeke CS, Falk GA, Walsh M, Smith AM, Morris-Stiff G. Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature. J Gastrointest Surg 2012; 16 (07) 1422-1428
    CrossrefPubMedSuche in Google Scholar
  • 47 Khanna L, Prasad SR, Sunnapwar A. et al. Pancreatic neuroendocrine neoplasms: 2020 update on pathologic and imaging findings and classification. Radiographics 2020; 40 (05) 1240-1262
    CrossrefPubMedSuche in Google Scholar
  • 48 Schmid S, Gillessen S, Binet I. et al. Management of von Hippel-Lindau disease: an interdisciplinary review. Oncol Res Treat 2014; 37 (12) 761-771
    CrossrefPubMedSuche in Google Scholar
  • 49 Binderup ML, Bisgaard ML, Harbud V. et al; Danish vHL Coordination Group. Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. Dan Med J 2013; 60 (12) B4763
    PubMedSuche in Google Scholar
  • 50 Kruizinga RC, Sluiter WJ, de Vries EG. et al. Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. Endocr Relat Cancer 2013; 21 (01) 63-71
    CrossrefPubMedSuche in Google Scholar
  • 51 VHL Family Alliance. The VHL handbook: what you need to know about VHL—a reference handbook for people with von Hippel-Lindau disease, their families, and support personnel. 2020 https://www.vhl.org/care-treatment/resources/
    PubMedSuche in Google Scholar
  • 52 Thakker RV. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol 2014; 386 (1-2): 2-15
    CrossrefPubMedSuche in Google Scholar
  • 53 Kamilaris CDC, Stratakis CA. Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis. Front Endocrinol (Lausanne) 2019; Jun 11: 10-339
    CrossrefPubMedSuche in Google Scholar
  • 54 Moline J, Eng C. Multiple endocrine neoplasia type 2: an overview. Genet Med 2011; 13 (09) 755-764
    CrossrefPubMedSuche in Google Scholar
  • 55 Wells Jr SA, Asa SL, Dralle H. et al; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid 2015; 25 (06) 567-610
    CrossrefPubMedSuche in Google Scholar
  • 56 Eichhorn-Wharry LI, Carlin AM, Talpos GB. Mild hypercalcemia: an indication to select 4-dimensional computed tomography scan for preoperative localization of parathyroid adenomas. Am J Surg 2011; 201 (03) 334-338 , discussion 338
    CrossrefPubMedSuche in Google Scholar
  • 57 Nael K, Hur J, Bauer A. et al. Dynamic 4D MRI for characterization of parathyroid adenomas: multi- parametric analysis. AJNR Am J Neuroradiol 2015; 36 (11) 2147-2152
    CrossrefPubMedSuche in Google Scholar
  • 58 Niederle B, Selberherr A, Bartsch DK. et al. Multiple endocrine neoplasia type 1 and the pancreas: diagnosis and treatment of functioning and non-functioning pancreatic and duodenal neuroendocrine neoplasia within the MEN1 syndrome - an International Consensus Statement. Neuroendocrinology 2021; 111 (07) 609-630
    CrossrefPubMedSuche in Google Scholar
  • 59 Grajo JR, Paspulati RM, Sahani DV, Kambadakone A. Multiple endocrine neoplasia syndromes: a comprehensive imaging review. Radiol Clin North Am 2016; 54 (03) 441-451
    CrossrefPubMedSuche in Google Scholar
  • 60 Iglesias P, Cardona J, Díez JJ. The pituitary in nuclear medicine imaging. Eur J Intern Med 2019; 68: 6-12
    CrossrefPubMedSuche in Google Scholar
  • 61 Scarsbrook AF, Thakker RV, Wass JAH, et al. Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach. Radiographics 2006; 26: 433-451
    CrossrefPubMedSuche in Google Scholar
  • 62 Castinetti F, Taïeb D. Positron emission tomography imaging in medullary thyroid carcinoma: time for reappraisal?. Thyroid 2021; 31 (02) 151-155
    CrossrefPubMedSuche in Google Scholar
  • 63 Gagel RF, Tashjian Jr AH, Cummings T. et al. The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience. N Engl J Med 1988; 318 (08) 478-484
    CrossrefPubMedSuche in Google Scholar
  • 64 de Laat JM, van Leeuwaarde RS, Valk GD. The importance of an early and accurate MEN1 diagnosis. Front Endocrinol (Lausanne) 2018; 9: 533
    CrossrefPubMedSuche in Google Scholar
  • 65 Peters JM, Prohl AK, Tomas-Fernandez XK. et al. Tubers are neither static nor discrete: evidence from serial diffusion tensor imaging. Neurology 2015; 85 (18) 1536-1545
    CrossrefPubMedSuche in Google Scholar
  • 66 Pollock JM, Whitlow CT, Tan H, Kraft RA, Burdette JH, Maldjian JA. Pulsed arterial spin-labeled MR imaging evaluation of tuberous sclerosis. AJNR Am J Neuroradiol 2009; 30 (04) 815-820
    CrossrefPubMedSuche in Google Scholar
  • 67 Liu S, Cai Y, Rong R. et al. Tuberous sclerosis complex (TSC) with epilepsy on 18F-FDG simultaneous PET/MR. Eur J Nucl Med Mol Imaging 2020; 47 (10) 2471-2472
    CrossrefPubMedSuche in Google Scholar
  • 68 Ruppe V, Dilsiz P, Reiss CS. et al. Developmental brain abnormalities in tuberous sclerosis complex: a comparative tissue analysis of cortical tubers and perituberal cortex. Epilepsia 2014; 55 (04) 539-550
    Suche in Google Scholar
  • 69 Roth J, Roach ES, Bartels U. et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr Neurol 2013; 49 (06) 439-444
    Suche in Google Scholar
  • 70 Jóźwiak S, Nabbout R, Curatolo P. participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. Eur J Paediatr Neurol 2013; 17 (04) 348-352
    CrossrefPubMedSuche in Google Scholar
  • 71 Sugalska M, Tomik A, Jóźwiak S, Werner B. Treatment of cardiac rhabdomyomas with mTOR inhibitors in children with tuberous sclerosis complex-a systematic review. Int J Environ Res Public Health 2021; 18 (09) 4907
    CrossrefPubMedSuche in Google Scholar
  • 72 Staehler M, Sauter M, Helck A. et al. Nephron-sparing resection of angiomyolipoma after sirolimus pretreatment in patients with tuberous sclerosis. Int Urol Nephrol 2012; 44 (06) 1657-1661
    CrossrefPubMedSuche in Google Scholar
  • 73 Northrup H, Aronow ME, Bebin EM. et al; International Tuberous Sclerosis Complex Consensus Group. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol 2021; 123: 50-66
    Suche in Google Scholar