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Yolk sac tumor

MedGen UID:
41782
Concept ID:
C0014145
Neoplastic Process
Synonym: Endodermal-sinus tumor
SNOMED CT: Infantile embryonal carcinoma (74409009); Endodermal sinus tumor (74409009); Yolk sac tumor (74409009); Polyvesicular vitelline tumor (74409009); Orchioblastoma (74409009); Embryonal carcinoma, infantile (74409009); Yolk sac tumor (404081005); Hepatoid yolk sac tumor (74409009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0005744
OMIM®: 273300
Orphanet: ORPHA876

Definition

A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVYolk sac tumor
Follow this link to review classifications for Yolk sac tumor in Orphanet.

Professional guidelines

PubMed

Weil BR, Rich BS, Madenci AL, Stambough KC, Schmoke N, Peace A, Bruny JL, Rescorla FJ, Dicken BJ, Dietrich JE, Billmire DF
Semin Pediatr Surg 2023 Oct;32(5):151342. Epub 2023 Nov 17 doi: 10.1016/j.sempedsurg.2023.151342. PMID: 38039829
Iavazzo C, Vorgias G, Iavazzo PE, Minis EE, Gkegkes ID
Minerva Ginecol 2018 Dec;70(6):750-753. doi: 10.23736/S0026-4784.18.04194-1. PMID: 30465413
Caldwell BT, Wilcox DT, Cost NG
Adv Pediatr 2017 Aug;64(1):191-223. doi: 10.1016/j.yapd.2017.04.001. PMID: 28688589

Recent clinical studies

Etiology

Ricci C, Ambrosi F, Franceschini T, Giunchi F, Franchini E, Massari F, Mollica V, Bianchi FM, Colecchia M, Acosta AM, Fiorentino M
Pathol Res Pract 2023 Jan;241:154269. Epub 2022 Dec 7 doi: 10.1016/j.prp.2022.154269. PMID: 36502737
Ramalingam P
Semin Diagn Pathol 2023 Jan;40(1):22-36. Epub 2022 Jul 29 doi: 10.1053/j.semdp.2022.07.004. PMID: 36088223
Young RH, Wong A, Stall JN
Am J Surg Pathol 2022 Mar 1;46(3):309-325. doi: 10.1097/PAS.0000000000001793. PMID: 34469331
Al-Obaidy KI, Idrees MT
Adv Anat Pathol 2021 Jul 1;28(4):258-275. doi: 10.1097/PAP.0000000000000302. PMID: 33871428
Euscher ED
Surg Pathol Clin 2019 Jun;12(2):621-649. doi: 10.1016/j.path.2019.01.005. PMID: 31097117

Diagnosis

Patel S, Satturwar S, Khan W, Ashman D, Quiroga-Garza GM
Ann Diagn Pathol 2023 Apr;63:152086. Epub 2022 Dec 23 doi: 10.1016/j.anndiagpath.2022.152086. PMID: 36580878
Ramalingam P
Semin Diagn Pathol 2023 Jan;40(1):22-36. Epub 2022 Jul 29 doi: 10.1053/j.semdp.2022.07.004. PMID: 36088223
Al-Obaidy KI, Idrees MT
Adv Anat Pathol 2021 Jul 1;28(4):258-275. doi: 10.1097/PAP.0000000000000302. PMID: 33871428
Euscher ED
Surg Pathol Clin 2019 Jun;12(2):621-649. doi: 10.1016/j.path.2019.01.005. PMID: 31097117
Ulbright TM
Int J Gynecol Pathol 2014 Jul;33(4):365-73. doi: 10.1097/PGP.0000000000000134. PMID: 24901396

Therapy

Luo M, He Y, Xie B, Li S, Gan F, Zhang S, Luo P
Pediatr Surg Int 2021 Aug;37(8):1031-1040. Epub 2021 May 24 doi: 10.1007/s00383-021-04895-1. PMID: 34031745
Yonemaru J, Takahashi M, Nara S, Ichikawa H, Ishigamori R, Imai T, Hiraoka N
Pancreatology 2020 Apr;20(3):551-557. Epub 2019 Dec 31 doi: 10.1016/j.pan.2019.12.021. PMID: 31917123
Lin SW, Hsieh SW, Huang SH, Liang HS, Huang CY
Taiwan J Obstet Gynecol 2019 Nov;58(6):846-848. doi: 10.1016/j.tjog.2019.09.020. PMID: 31759539
Chieffi P, De Martino M, Esposito F
Recent Pat Anticancer Drug Discov 2019;14(1):53-59. doi: 10.2174/1574892814666190111120023. PMID: 30636617
Kamal S, Kaliki S, Sreedhar A, Mishra DK
Int Ophthalmol 2016 Jun;36(3):435-44. Epub 2015 Oct 19 doi: 10.1007/s10792-015-0142-y. PMID: 26481249

Prognosis

Skowron MA, Kotthoff M, Bremmer F, Ruhnke K, Parmaksiz F, Richter A, Küffer S, Reuter-Jessen K, Pauls S, Stefanski A, Ströbel P, Stühler K, Nettersheim D
Mol Med 2023 Mar 29;29(1):40. doi: 10.1186/s10020-023-00636-3. PMID: 36991316Free PMC Article
Guo CC, Czerniak B
Hum Pathol 2023 Mar;133:102-114. Epub 2023 Mar 6 doi: 10.1016/j.humpath.2023.02.008. PMID: 36890027
Guo CC, Czerniak B
Hum Pathol 2022 Sep;127:123-135. Epub 2022 Jul 5 doi: 10.1016/j.humpath.2022.06.024. PMID: 35803413
Euscher ED
Arch Pathol Lab Med 2017 Feb;141(2):293-297. Epub 2016 Dec 13 doi: 10.5858/arpa.2016-0151-SA. PMID: 27959583
Rittiluechai K, Wilcox R, Lisle J, Everett E, Wallace HJ 3rd, Verschraegen CF
Eur J Obstet Gynecol Reprod Biol 2014 Apr;175:25-9. Epub 2014 Jan 3 doi: 10.1016/j.ejogrb.2013.12.029. PMID: 24462393

Clinical prediction guides

Schraw JM, Sok P, Desrosiers TA, Janitz AE, Langlois PH, Canfield MA, Frazier AL, Plon SE, Lupo PJ, Poynter JN
Cancer 2023 Oct 15;129(20):3300-3308. Epub 2023 Jun 27 doi: 10.1002/cncr.34906. PMID: 37366624Free PMC Article
Skowron MA, Kotthoff M, Bremmer F, Ruhnke K, Parmaksiz F, Richter A, Küffer S, Reuter-Jessen K, Pauls S, Stefanski A, Ströbel P, Stühler K, Nettersheim D
Mol Med 2023 Mar 29;29(1):40. doi: 10.1186/s10020-023-00636-3. PMID: 36991316Free PMC Article
Burla L, Kalaitzopoulos DR, Mrozek A, Eberhard M, Samartzis N
Fertil Steril 2022 Feb;117(2):461-462. Epub 2022 Jan 2 doi: 10.1016/j.fertnstert.2021.11.016. PMID: 34986982
Young RH, Wong A, Stall JN
Am J Surg Pathol 2022 Mar 1;46(3):309-325. doi: 10.1097/PAS.0000000000001793. PMID: 34469331
Ravishankar S, Malpica A, Ramalingam P, Euscher ED
Am J Surg Pathol 2017 Jan;41(1):1-11. doi: 10.1097/PAS.0000000000000722. PMID: 27631522

Recent systematic reviews

Zengerling F, Beyersdorff D, Busch J, Heinzelbecker J, Pfister D, Ruf C, Winter C, Albers P, Kliesch S, Schmidt S
World J Urol 2022 Dec;40(12):2879-2887. Epub 2022 Jul 29 doi: 10.1007/s00345-022-04063-7. PMID: 35906286Free PMC Article
Raynald, Yang H, Zhang X, Ma'ruf L, Li C, Jiang T
Neurochirurgie 2021 Nov;67(6):587-598. Epub 2021 Mar 19 doi: 10.1016/j.neuchi.2021.02.014. PMID: 33753128
Lu T, Qi L, Ma Y, Lu G, Zhang X, Liu P
Arch Gynecol Obstet 2019 Nov;300(5):1177-1187. Epub 2019 Sep 23 doi: 10.1007/s00404-019-05309-3. PMID: 31549219
Kodama M, Grubbs BH, Blake EA, Cahoon SS, Murakami R, Kimura T, Matsuo K
Eur J Obstet Gynecol Reprod Biol 2014 Oct;181:145-56. Epub 2014 Aug 7 doi: 10.1016/j.ejogrb.2014.07.047. PMID: 25150953

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