Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende
Erweiterte Suche
Anmelden
nach oben
Current Treatment Options in Oncology
Erschienen in: Current Treatment Options in Oncology 6/2020

01.06.2020 | Neuroendocrine Cancers (JR Strosberg, Section Editor)

Hereditary Syndromes in Neuroendocrine Tumors

verfasst von: Mark A. Lewis, MD

Erschienen in: Current Treatment Options in Oncology | Ausgabe 6/2020

Einloggen, um Zugang zu erhalten

Opinion statement

Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a “tip-of-the-iceberg” phenomenon whereby their entire kindred can then be proactively monitored and managed potentially with substantial reduction of morbidity and mortality. Through careful history-taking, as well as thoughtful assimilation of findings from the physical exam, biochemical laboratories, scans, and pathology reports, the clinician can spot phenotypic clues that distinguish these familial patterns from sporadic cases of tumorigenesis.
Literatur
1.
Moertel CG. Karnofsky memorial lecture. An odyssey in the land of small tumors. J Clin Oncol. 1987;5(10):1502–22.PubMedCrossRef
2.
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012;97(9):2990.PubMedCrossRef
3.
de Laat JM, Dekkers OM, Pieterman CR, Kluijfhout WP, Hermus AR, Pereira AM, et al. Long-term natural course of pituitary tumors in patients with MEN1: results from the DutchMEN1 study group (DMSG). J Clin Endocrinol Metab. 2015;100(9):3288.PubMedCrossRef
4.
Conemans EB, Nell S, Pieterman CRC, de Herder WW, Dekkers OM, Hermus AR, et al. Prognostic factors for survival of MEN1 patients with duodenopancreatic tumors metastatic to the liver: results from the DSMG. Endocr Pract. 2017;23(6):641–8.PubMedCrossRef
5.
Pieterman CRC, de Laat JM, Twisk JWR, van Leeuwaarde RS, de Herder WW, Dreijerink KMA, et al. Long-term natural course of small nonfunctional pancreatic neuroendocrine tumors in MEN1-results from the Dutch MEN1 study group. J Clin Endocrinol Metab. 2017;102(10):3795–805.CrossRefPubMed
6.
Asgharian B, Turner ML, Gibril F, Entsuah LK, Serrano J, Jensen RT. Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. J Clin Endocrinol Metab. 2004;89(11):5328–36.PubMedCrossRef
7.
Ventura M, Melo M, Carrilho F. Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1. Arch Endocrinol Metab. 2019;63(5):516–23.PubMed
8.
Christakis I, Qiu W, Silva Figueroa AM, Hyde S, Cote GJ, Busaidy NL, et al. Clinical features, treatments, and outcomes of patients with thymic carcinoids and multiple endocrine neoplasia type 1 syndrome at MD Anderson Cancer Center. Horm Cancer. 2016;7(4):279–87.PubMedCrossRef
9.
Frilling A, Weber F, Tecklenborg C, Broelsch CE. Prophylactic thyroidectomy in multiple endocrine neoplasia: the impact of molecular mechanisms of RET proto-oncogene. Langenbeck’s Arch Surg. 2003;388(1):17–26.CrossRef
10.
• Frederiksen A, Rossing M, Hermann P, Ejersted C, Thakker RV, Frost M. Clinical features of multiple endocrine neoplasia type 4: novel pathogenic variant and review of published cases. J Clin Endocrinol Metab. 2019;104(9):3637–46 A recent review of cases of MEN4 clarifying its clinical phenotype, especially compared to MEN1.PubMedPubMedCentralCrossRef
11.
12.
van Leeuwaarde RS, Ahmad S, Links TP, et al. Von Hippel-Lindau syndrome. 2000 May 17 [Updated 2018 Sep 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. Available from: https://​www.​ncbi.​nlm.​nih.​gov/​books/​NBK1463/​. Accessed 13 Jan 2020.
13.
Baguet JP, Hammer L, Mazzuco TL, Chabre O, Mallion JM, Sturm N, et al. Circumstances of discovery of phaeochromocytoma: a retrospective study of 41 consecutive patients. Eur J Endocrinol. 2004;150(5):681–6.PubMedCrossRef
14.
Kopetschke R, Slisko M, Kilisli A, Tuschy U, Wallaschofski H, Fassnacht M, et al. Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma. Eur J Endocrinol. 2009;161(2):355–61.PubMedCrossRef
15.
Bayley JP, Oldenburg RA, Nuk J, Hoekstra AS, van der Meer CA, Korpershoek E, et al. Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations. BMC Med Genet. 2014;15:111.PubMedPubMedCentralCrossRef
16.
HC MC, Babajanian E, Calquin M, Carpenter P, Casazza G, Naumer A, et al. Characterization of malignant head and neck paragangliomas at a single institution across multiple decades. JAMA Otolaryngol Head Neck Surg. 2019;145(7):641–6.CrossRef
17.
Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(6):1915–42.PubMedCrossRef
18.
Jasim S, Jimenez C. Metastatic pheochromocytoma and paraganglioma: management of endocrine manifestations, surgery and ablative procedures, and systemic therapies. Best Pract Res Clin Endocrinol Metab. 2019;24:101354.CrossRef
19.
20.
Griffiths DF, Williams GT, Williams ED. Duodenal carcinoid tumours, phaeochromocytoma and neurofibromatosis: islet cell tumour, phaeochromocytoma and the von Hippel-Lindau complex: two distinctive neuroendocrine syndromes. Q J Med. 1987;64(245):769–82.PubMed
21.
Vaassen P, Dürr N, Röhrig A, Willing R, Rosenbaum T. Trametinib induces neurofibroma shrinkage and enables surgery. Neuropediatrics. 2019;50(5):300–3.PubMedCrossRef
22.
Kurlemann G, Schuierer G. Images in clinical medicine. Ash-leaf spots in tuberous sclerosis. N Engl J Med. 1998;338(26):1887.PubMedCrossRef
23.
Bongiorno MA, Nathan N, Oyerinde O, Wang JA, Lee CR, Brown GT, et al. Clinical characteristics of connective tissue nevi in tuberous sclerosis complex with special emphasis on shagreen patches. JAMA Dermatol. 2017;153(7):660–5.PubMedPubMedCentralCrossRef
24.
Larson AM, Hedgire SS, Deshpande V, Stemmer-Rachamimov AO, Harisinghani MG, Ferrone CR, et al. Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. Clin Genet. 2012;82(6):558–63.PubMedCrossRef
25.
Joinson C, O’Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med. 2003;33(2):335–44.PubMedCrossRef
26.
Nuñez JE, Donadio M, Filho DR, Rego JF, Barros M, Formiga MN, et al. The efficacy of everolimus and sunitinib in patients with sporadic or germline mutated metastatic pancreatic neuroendocrine tumors. J Gastrointest Oncol. 2019;10(4):645–51.PubMedPubMedCentralCrossRef
27.
Jonasch E, McCutcheon IE, Gombos DS, Ahrar K, Perrier ND, Liu D, et al. Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. Lancet Oncol. 2018;19:1351–9.PubMedPubMedCentralCrossRef
28.
Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, Charpentier E. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science. 2012;337(6096):816–21.PubMedPubMedCentralCrossRef
29.
Doudna JA, Charpentier E. Genome editing. The new frontier of genome engineering with CRISPR-Cas9. Science. 2014;346(6213):1258096.PubMedCrossRef
30.
•• Tan ZY, Huang T, Ngeow J. 65 YEARS OF THE DOUBLE HELIX: the advancements of gene editing and potential application to hereditary cancer. Endocr Relat Cancer. 2018;25(8):T141–58 Superb synopsis of CRISPR-CAS9’s addition to the genome editing toolbox and the rationale for its use against hereditary cancer predisposition syndromes.PubMedCrossRef
31.
•• Kofler N, Kraschel KL. Treatment of heritable diseases using CRISPR: hopes, fears, and reality. Semin Perinatol. 2018;42(8):515–21 Contemporaneous review article that frames CRISPR’s potential therapeutic applications within the current regulatory landscape.PubMedCrossRef
32.
33.
Wasserman JD, Tomlinson GE, Druker H, Kamihara J, Kohlmann WK, Kratz CP, et al. Multiple endocrine neoplasia and hyperparathyroid-jaw tumor syndromes: clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res. 2017;23(13):e123–32.PubMedPubMedCentralCrossRef
34.
Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N, et al. Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. J Clin Endocrinol Metab. 2015;100(12):4498–504.PubMedPubMedCentralCrossRef
35.
36.
Hersh JH, American Academy of Pediatrics Committee on Genetics. Health supervision for children with neurofibromatosis. Pediatrics. 2008;121(3):633–42.PubMedCrossRef
37.
Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):255–65.PubMedPubMedCentralCrossRef
38.
Quinn G, Vadaparampil S, Wilson C, King L, Choi J, Miree C, et al. Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertil Steril. 2009;91(6):2361–8.PubMedCrossRef
39.
Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768–70.PubMedCrossRef
40.
Handyside AH, Xu K. Preimplantation genetic diagnosis comes of age. Semin Reprod Med. 2012;30(4):255–8.PubMedCrossRef
41.
Yeager S, Mehta S, Sodhi M, Shah B. Can preimplantation genetic diagnosis be used for monogenic endocrine diseases? J Pediatr Endocrinol Metab. 2019;32(12):1305–10.PubMedCrossRef
42.
Lima AD, Alves VR, Rocha AR, Martinhago AC, Martinhago C, Donadio N, et al. Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report. JBRA Assist Reprod. 2018;22(1):67–70.PubMedPubMedCentral
43.
Chen S, Li S, Zhang J, Zhang L, Chen Y, Wang L, et al. Preimplantation genetic diagnosis of multiple endocrine Neoplasia type 2A using informative markers identified by targeted sequencing. Thyroid. 2018;28(3):281–7.PubMedCrossRef
44.
Obradors A, Fernández E, Rius M, Oliver-Bonet M, Martínez-Fresno M, Benet J, et al. Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening. Fertil Steril. 2009;91(3):933.e1–7.CrossRef
45.
Merker VL, Murphy TP, Hughes JB, Muzikansky A, Hughes MR, Souter I, et al. Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1. Fertil Steril. 2015;103(3):761–8.e1.PubMedCrossRef
46.
Naja RP, Dhanjal S, Doshi A, Serhal P, Delhanty J, SB SG. The impact of mosaicism in preimplantation genetic diagnosis (PGD): approaches to PGD for dominant disorders in couples without family history. Prenat Diagn. 2016;36(9):864–70.PubMedCrossRef
Metadaten
Titel
Hereditary Syndromes in Neuroendocrine Tumors
verfasst von
Mark A. Lewis, MD
Publikationsdatum
01.06.2020
Verlag
Springer US
Erschienen in
Current Treatment Options in Oncology / Ausgabe 6/2020
Print ISSN: 1527-2729
Elektronische ISSN: 1534-6277
DOI
https://doi.org/10.1007/s11864-020-00749-5

Weitere Artikel der Ausgabe 6/2020

Current Treatment Options in Oncology 6/2020 Zur Ausgabe

Skin Cancer (T Ito, Section Editor)

The Role of Epithelial-to-Mesenchymal Transition in Cutaneous Squamous Cell Carcinoma

Gynecologic Cancers (LA Cantrell, Section Editor)

Recurrent Treatment in Ovarian Cancer Patients: What Are the Best Regimens and the Order They Should Be Given?

Lymphoma (DO Persky, Section Editor)

PI3K Inhibitors and Their Role as Novel Agents for Targeted Therapy in Lymphoma

Leukemia (PH Wiernik, Section Editor)

Biology and Treatment of Hairy Cell Leukemia

Skin Cancer (T Ito, Section Editor)

Current Treatment of Melanoma Brain Metastasis

Leukemia (PH Wiernik, Section Editor)

Management of Myelofibrosis: from Diagnosis to New Target Therapies

Neu im Fachgebiet Onkologie

Adjuvante Immuntherapie verlängert Leben bei RCC

25.04.2024 Nierenkarzinom Nachrichten

Nun gibt es auch Resultate zum Gesamtüberleben: Eine adjuvante Pembrolizumab-Therapie konnte in einer Phase-3-Studie das Leben von Menschen mit Nierenzellkarzinom deutlich verlängern. Die Sterberate war im Vergleich zu Placebo um 38% geringer.

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

25.04.2024 NSCLC Nachrichten

Das Risiko für Rezidiv oder Tod von Patienten und Patientinnen mit reseziertem ALK-positivem NSCLC ist unter einer adjuvanten Therapie mit dem Tyrosinkinase-Inhibitor Alectinib signifikant geringer als unter platinbasierter Chemotherapie.

Bei Senioren mit Prostatakarzinom auf Anämie achten!

24.04.2024 DGIM 2024 Nachrichten

Patienten, die zur Behandlung ihres Prostatakarzinoms eine Androgendeprivationstherapie erhalten, entwickeln nicht selten eine Anämie. Wer ältere Patienten internistisch mitbetreut, sollte auf diese Nebenwirkung achten.

ICI-Therapie in der Schwangerschaft wird gut toleriert

23.04.2024 Medikamente in Schwangerschaft und Stillzeit Nachrichten

Müssen sich Schwangere einer Krebstherapie unterziehen, rufen Immuncheckpointinhibitoren offenbar nicht mehr unerwünschte Wirkungen hervor als andere Mittel gegen Krebs.

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen
Bildnachweise