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Kaposi sarcoma, susceptibility to

MedGen UID:
761233
Concept ID:
C3538945
Finding
Synonym: MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO
 
Gene (location): IL6 (7p15.3)
 
Monarch Initiative: MONDO:0007845
OMIM®: 148000

Definition

Kaposi sarcoma (KS) is a rare neoplasm that shows sporadic, endemic, and epidemic forms. KS usually presents with purplish papular cutaneous lesions often on the lower limbs, back, and mouth, but may also involve the gastrointestinal and respiratory systems. KS is caused by an infectious agent, Kaposi sarcoma-associated herpesvirus (KSHV; human herpesvirus-8, HHV-8). KSHV infection is necessary but not sufficient for KS development; the infection is mostly asymptomatic but may cause disease in immunocompromised patients (summary by Yogev et al., 2024). KS is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000). Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD). [from OMIM]

Clinical features

From HPO
Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Kaposi sarcoma
MedGen UID:
11321
Concept ID:
C0036220
Neoplastic Process
A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypermelanotic macule
MedGen UID:
375013
Concept ID:
C1842774
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Walsh KF, Souroutzidis A, Vilbrun SC, Peeples M, Joissaint G, Delva S, Widmann P, Royal G, Pry J, Bang H, Pape JW, Koenig SP
Am J Trop Med Hyg 2019 Feb;100(2):392-398. doi: 10.4269/ajtmh.18-0493. PMID: 30594266Free PMC Article
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Simonart T, Hermans P, Van Vooren JP
Dermatology 2002;205(4):340-3. doi: 10.1159/000066424. PMID: 12444327

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Kaposi Sarcoma, 2023

Recent clinical studies

Etiology

Dorman SE, Nahid P, Kurbatova EV, Phillips PPJ, Bryant K, Dooley KE, Engle M, Goldberg SV, Phan HTT, Hakim J, Johnson JL, Lourens M, Martinson NA, Muzanyi G, Narunsky K, Nerette S, Nguyen NV, Pham TH, Pierre S, Purfield AE, Samaneka W, Savic RM, Sanne I, Scott NA, Shenje J, Sizemore E, Vernon A, Waja Z, Weiner M, Swindells S, Chaisson RE; AIDS Clinical Trials Group; Tuberculosis Trials Consortium
N Engl J Med 2021 May 6;384(18):1705-1718. doi: 10.1056/NEJMoa2033400. PMID: 33951360Free PMC Article
Vázquez-Ulloa E, Lizano M, Sjöqvist M, Olmedo-Nieva L, Contreras-Paredes A
Rev Med Virol 2018 Sep;28(5):e1988. Epub 2018 Jun 28 doi: 10.1002/rmv.1988. PMID: 29956408
Daunert S, Sittampalam GS, Goldschmidt-Clermont PJ
Antioxid Redox Signal 2017 Sep 20;27(9):511-516. Epub 2017 Jul 5 doi: 10.1089/ars.2017.7065. PMID: 28482684Free PMC Article
Hecht F, Hecht BK
Cancer Genet Cytogenet 1990 May;46(1):9-19. doi: 10.1016/0165-4608(90)90003-s. PMID: 2184934
Ziegler JL
Front Radiat Ther Oncol 1985;19:99-104. doi: 10.1159/000429349. PMID: 3884453

Diagnosis

Dorman SE, Nahid P, Kurbatova EV, Phillips PPJ, Bryant K, Dooley KE, Engle M, Goldberg SV, Phan HTT, Hakim J, Johnson JL, Lourens M, Martinson NA, Muzanyi G, Narunsky K, Nerette S, Nguyen NV, Pham TH, Pierre S, Purfield AE, Samaneka W, Savic RM, Sanne I, Scott NA, Shenje J, Sizemore E, Vernon A, Waja Z, Weiner M, Swindells S, Chaisson RE; AIDS Clinical Trials Group; Tuberculosis Trials Consortium
N Engl J Med 2021 May 6;384(18):1705-1718. doi: 10.1056/NEJMoa2033400. PMID: 33951360Free PMC Article
Bhatt MD, Nambudiri VE
Hematol Oncol Clin North Am 2019 Feb;33(1):87-101. doi: 10.1016/j.hoc.2018.08.007. PMID: 30497679
Akanmu AS
Afr J Med Med Sci 2006 Dec;35 Suppl:57-70. PMID: 18050776
Witte CL, Witte MH
Acad Radiol 1995 Apr;2(4):324-34. doi: 10.1016/s1076-6332(05)80193-x. PMID: 9419570
Muggia FM, Lonberg M
Med Clin North Am 1986 Jan;70(1):139-54. doi: 10.1016/s0025-7125(16)30973-7. PMID: 3001451

Therapy

Miotto IZ, Festa Neto C, de Oliveira WRP
Transpl Immunol 2023 Jun;78:101838. Epub 2023 Apr 19 doi: 10.1016/j.trim.2023.101838. PMID: 37085124
Bolze A, Mogensen TH, Zhang SY, Abel L, Andreakos E, Arkin LM, Borghesi A, Brodin P, Hagin D, Novelli G, Okada S, Peter J, Renia L, Severe K, Tiberghien P, Vinh DC; COVID human genetic effort, Cirulli ET, Casanova JL, Hsieh EWY
J Clin Immunol 2022 Oct;42(7):1354-1359. Epub 2022 Oct 8 doi: 10.1007/s10875-022-01372-9. PMID: 36207567Free PMC Article
Dorman SE, Nahid P, Kurbatova EV, Phillips PPJ, Bryant K, Dooley KE, Engle M, Goldberg SV, Phan HTT, Hakim J, Johnson JL, Lourens M, Martinson NA, Muzanyi G, Narunsky K, Nerette S, Nguyen NV, Pham TH, Pierre S, Purfield AE, Samaneka W, Savic RM, Sanne I, Scott NA, Shenje J, Sizemore E, Vernon A, Waja Z, Weiner M, Swindells S, Chaisson RE; AIDS Clinical Trials Group; Tuberculosis Trials Consortium
N Engl J Med 2021 May 6;384(18):1705-1718. doi: 10.1056/NEJMoa2033400. PMID: 33951360Free PMC Article
Cho J, Chachoua A
Curr Opin Oncol 1992 Aug;4(4):667-73. doi: 10.1097/00001622-199208000-00011. PMID: 1380838
Ziegler JL
Front Radiat Ther Oncol 1985;19:99-104. doi: 10.1159/000429349. PMID: 3884453

Prognosis

Dorman SE, Nahid P, Kurbatova EV, Phillips PPJ, Bryant K, Dooley KE, Engle M, Goldberg SV, Phan HTT, Hakim J, Johnson JL, Lourens M, Martinson NA, Muzanyi G, Narunsky K, Nerette S, Nguyen NV, Pham TH, Pierre S, Purfield AE, Samaneka W, Savic RM, Sanne I, Scott NA, Shenje J, Sizemore E, Vernon A, Waja Z, Weiner M, Swindells S, Chaisson RE; AIDS Clinical Trials Group; Tuberculosis Trials Consortium
N Engl J Med 2021 May 6;384(18):1705-1718. doi: 10.1056/NEJMoa2033400. PMID: 33951360Free PMC Article
Bhatt MD, Nambudiri VE
Hematol Oncol Clin North Am 2019 Feb;33(1):87-101. doi: 10.1016/j.hoc.2018.08.007. PMID: 30497679
Akanmu AS
Afr J Med Med Sci 2006 Dec;35 Suppl:57-70. PMID: 18050776
Buonaguro FM, Tornesello ML, Buonaguro L, Satriano RA, Ruocco E, Castello G, Ruocco V
J Eur Acad Dermatol Venereol 2003 Mar;17(2):138-54. doi: 10.1046/j.1468-3083.2003.00670.x. PMID: 12705742
Witte CL, Witte MH
Acad Radiol 1995 Apr;2(4):324-34. doi: 10.1016/s1076-6332(05)80193-x. PMID: 9419570

Clinical prediction guides

Koyuncu I, Gönel A, Ozcan E, Temiz E, Toprak Ş, Akkafa F, Binici I
Curr HIV Res 2020;18(3):154-164. doi: 10.2174/1570162X18666200130100654. PMID: 32539678
Pringle ES, Wertman J, Melong N, Coombs AJ, Young AL, O'Leary D, Veinotte C, Robinson CA, Ha MN, Dellaire G, Druley TE, McCormick C, Berman JN
Viruses 2019 Dec 20;12(1) doi: 10.3390/v12010012. PMID: 31861850Free PMC Article
King CA, Li X, Barbachano-Guerrero A, Bhaduri-McIntosh S
J Virol 2015 Nov;89(22):11347-55. Epub 2015 Sep 2 doi: 10.1128/JVI.02008-15. PMID: 26339061Free PMC Article
Molho-Pessach V, Lotem M
Curr Probl Dermatol 2007;35:39-51. doi: 10.1159/000106409. PMID: 17641489
Duse AG
J Hosp Infect 1999 Dec;43 Suppl:S191-201. doi: 10.1016/s0195-6701(99)90086-5. PMID: 10658779

Recent systematic reviews

Bullington BW, Klemperer K, Mages K, Chalem A, Mazigo HD, Changalucha J, Kapiga S, Wright PF, Yazdanbakhsh MM, Downs JA
PLoS Pathog 2021 May;17(5):e1009555. Epub 2021 May 20 doi: 10.1371/journal.ppat.1009555. PMID: 34015063Free PMC Article

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Kaposi Sarcoma, 2023

    Consumer resources

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