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Embryonal neoplasm

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
Synonyms: Embryonal Neoplasm; Embryonal Neoplasms; Neoplasm, Embryonal; Neoplasms, Embryonal
 
HPO: HP:0002898
Monarch Initiative: MONDO:0005564

Definition

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, ependymoblastoma, pineoblastoma, and Wilms tumor are representative embryonal neoplasms. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEmbryonal neoplasm

Conditions with this feature

Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.
Germ cell tumor of testis
MedGen UID:
277809
Concept ID:
C1336708
Neoplastic Process
Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell Tumors A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27.
Isolated hemihyperplasia
MedGen UID:
383853
Concept ID:
C1856184
Disease or Syndrome
Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006). Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900). Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).

Professional guidelines

PubMed

Garbe C, Amaral T, Peris K, Hauschild A, Arenberger P, Basset-Seguin N, Bastholt L, Bataille V, Del Marmol V, Dréno B, Fargnoli MC, Forsea AM, Grob JJ, Hoeller C, Kaufmann R, Kelleners-Smeets N, Lallas A, Lebbé C, Lytvynenko B, Malvehy J, Moreno-Ramirez D, Nathan P, Pellacani G, Saiag P, Stratigos AJ, Van Akkooi ACJ, Vieira R, Zalaudek I, Lorigan P; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO), and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Jul;170:256-284. Epub 2022 May 24 doi: 10.1016/j.ejca.2022.04.018. PMID: 35623961
Filetti S, Durante C, Hartl D, Leboulleux S, Locati LD, Newbold K, Papotti MG, Berruti A; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2019 Dec 1;30(12):1856-1883. doi: 10.1093/annonc/mdz400. PMID: 31549998
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Kurose N, Takenaka M, Yamashita M, Shimaguchi C, Nakano M, Britni B, Guo X, Futatsuya C, Shioya A, Yamada S
Diagn Pathol 2018 Oct 27;13(1):84. doi: 10.1186/s13000-018-0761-5. PMID: 30368245Free PMC Article
Carvalho RM, Pinto GR, Yoshioka FK, Lima PD, Souza CR, Guimarães AC, Lamarão LM, Rey JA, Burbano RR
J Neurooncol 2012 Oct;110(1):49-57. Epub 2012 Aug 11 doi: 10.1007/s11060-012-0950-0. PMID: 22886512
Helton KJ, Fouladi M, Boop FA, Perry A, Dalton J, Kun L, Fuller C
Cancer 2004 Sep 15;101(6):1445-54. doi: 10.1002/cncr.20450. PMID: 15368333
Kushner BH
J Nucl Med 2004 Jul;45(7):1172-88. PMID: 15235064
Scott J, Cowell J, Robertson ME, Priestley LM, Wadey R, Hopkins B, Pritchard J, Bell GI, Rall LB, Graham CF
Nature 1985 Sep 19-25;317(6034):260-2. doi: 10.1038/317260a0. PMID: 2995818

Diagnosis

Jitpasutham T, Faquin WC, Torous VF, Nosé V
Diagn Cytopathol 2023 May;51(5):E142-E148. Epub 2023 Jan 23 doi: 10.1002/dc.25105. PMID: 36688366
Bailey D, Mau C, Toepke C, Finch E, Rizk E
Childs Nerv Syst 2022 Jul;38(7):1259-1266. Epub 2022 Apr 27 doi: 10.1007/s00381-022-05525-4. PMID: 35474542
Alexiou GA, Stefanaki K, Vartholomatos G, Sfakianos G, Prodromou N, Moschovi M
J Child Neurol 2013 Dec;28(12):1709-15. Epub 2013 Jan 17 doi: 10.1177/0883073812471434. PMID: 23334078
Helton KJ, Fouladi M, Boop FA, Perry A, Dalton J, Kun L, Fuller C
Cancer 2004 Sep 15;101(6):1445-54. doi: 10.1002/cncr.20450. PMID: 15368333
Kushner BH
J Nucl Med 2004 Jul;45(7):1172-88. PMID: 15235064

Therapy

Zaky W, Dhall G, Ji L, Haley K, Allen J, Atlas M, Bertolone S, Cornelius A, Gardner S, Patel R, Pradhan K, Shen V, Thompson S, Torkildson J, Sposto R, Finlay JL
Pediatr Blood Cancer 2014 Jan;61(1):95-101. Epub 2013 Aug 11 doi: 10.1002/pbc.24648. PMID: 23934933
Ferri Niguez B, Martínez-Lage JF, Almagro MJ, Fuster JL, Serrano C, Torroba MA, Sola J
Childs Nerv Syst 2010 Aug;26(8):1003-8. Epub 2010 May 25 doi: 10.1007/s00381-010-1179-x. PMID: 20499240
Kushner BH
J Nucl Med 2004 Jul;45(7):1172-88. PMID: 15235064
Brown BF, Drehner DM, Saldivar VA
Mil Med 1993 Jan;158(1):51-5. PMID: 7679785

Prognosis

Alexiou GA, Stefanaki K, Vartholomatos G, Sfakianos G, Prodromou N, Moschovi M
J Child Neurol 2013 Dec;28(12):1709-15. Epub 2013 Jan 17 doi: 10.1177/0883073812471434. PMID: 23334078
Cairo S, Wang Y, de Reyniès A, Duroure K, Dahan J, Redon MJ, Fabre M, McClelland M, Wang XW, Croce CM, Buendia MA
Proc Natl Acad Sci U S A 2010 Nov 23;107(47):20471-6. Epub 2010 Nov 8 doi: 10.1073/pnas.1009009107. PMID: 21059911Free PMC Article
Khoury JD
Clin Lab Med 2005 Jun;25(2):341-61, vi-vii. doi: 10.1016/j.cll.2005.01.010. PMID: 15848740
Champier J, Jouvet A, Rey C, Brun V, Bernard A, Fèvre-Montange M
Acta Neuropathol 2005 Mar;109(3):306-13. Epub 2004 Dec 31 doi: 10.1007/s00401-004-0964-6. PMID: 15627204
Kushner BH
J Nucl Med 2004 Jul;45(7):1172-88. PMID: 15235064

Clinical prediction guides

Kurose N, Takenaka M, Yamashita M, Shimaguchi C, Nakano M, Britni B, Guo X, Futatsuya C, Shioya A, Yamada S
Diagn Pathol 2018 Oct 27;13(1):84. doi: 10.1186/s13000-018-0761-5. PMID: 30368245Free PMC Article
Kushner BH
J Nucl Med 2004 Jul;45(7):1172-88. PMID: 15235064

Recent systematic reviews

Alexiou GA, Stefanaki K, Vartholomatos G, Sfakianos G, Prodromou N, Moschovi M
J Child Neurol 2013 Dec;28(12):1709-15. Epub 2013 Jan 17 doi: 10.1177/0883073812471434. PMID: 23334078

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