Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a <I>PIK3CA </I>Mutation

Jacinta Murray; Sadia Zafreen; Susie Goodwin; Christopher Driver; Clair Evans

doi:doi:10.11648/j.plm.20240801.12

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Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation

Jacinta Murray^*

, Sadia Zafreen

, Susie Goodwin

, Christopher Driver

, Clair Evans

Published in Pathology and Laboratory Medicine (Volume 8, Issue 1)

Received: 29 August 2024 Accepted: 18 September 2024 Published: 10 October 2024

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Abstract

Papillary intralymphatic angioendothelioma (PILA) is a locally aggressive, rarely metastasising lymphatic tumour that typically arises within the skin and soft tissues. We report a case of PILA arising within the spleen of a 6-year-old boy with megacephaly-capillary malformation (MCAP/MC-M) syndrome. MCAP/MC-M represents part of the phosphatidylinositol-4,5-biphosphate 3 kinase catalytic subunit alpha (PIK3CA) related overgrowth spectrum (PROS). This is the 6^th reported case in the literature of a splenic PILA and the 2^nd known to have occurred in the context of a confirmed PIK3CA mutation. In reporting this case we review prior reports of PILA occurring within the spleen and discuss the potential role of the PIK3CA mutation in the aetiology of the lesion, and note a theoretical application of mammalian target of rapamycin (mTOR) inhibitors as a possible therapeutic strategy.

Published in	Pathology and Laboratory Medicine (Volume 8, Issue 1)
DOI	10.11648/j.plm.20240801.12
Page(s)	9-14
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Spleen, Lymphatic Malformation, Papillary Intralymphatic Angioendothelioma, PIK3CA Mutation, PROS

References

[1]	WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [cited YYYY Mmm D]. (WHO classification of tumours series, 5th ed.; vol. 3). Available from: https://tumourclassification.iarc.who.int/chapters/33
[2]	Julie A. Katz, Donald H. Mahoney, Lee Wolpin Shukla, C. Wayne Smith, M. V. Gresik & Hal K. Hawkins (1988) Endovascular Papillary Angioendothelioma in the Spleen, Pediatric Pathology, 8:2, 185-193, https://doi.org/10.3109/15513818809022296
[3]	Rodgers B, Zeim S, Crawford B, Neitzschman H, Daroca P, Scher CD. Splenic papillary angioendothelioma in a 6-year-old girl. J Pediatr Hematol Oncol. 2007 Dec; 29(12): 808-10. https://doi.org/10.1097/MPH.0b013e31815814b1 PMID: 18090926
[4]	Wang L, Yang Q, Zhou H, Li J. Multiple papillary intralymphatic angioendotheliomas in the spleen. Rev Esp Enferm Dig. 2022 Jun 15. https://doi.org/10.17235/reed.2022.8966/2022 Epub ahead of print. PMID: 35704380.
[5]	Li T, Yu J, Sun X, Lv G. A huge spleen with papillary intralymphatic angioendothelioma. Dig Liver Dis. 2024 Feb; 56(2): 365-366. https://doi.org/10.1016/j.dld.2023.11.002 Epub 2023 Nov 20. PMID: 37989615.
[6]	Debelenko L, Mansukhani MM, Remotti F. Papillary Intralymphatic Angioendothelioma in a Child With PIK3CA-Related Overgrowth Spectrum: Implication of PI3K Pathway in the Vascular Tumorigenesis. Pediatr Dev Pathol. 2023 Mar-Apr; 26(2): 166-171. https://doi.org/10.1177/10935266231152370 Epub 2023 Feb 12. PMID: 36775953.
[7]	Mirzaa G, Graham JM Jr, Keppler-Noreuil K. PIK3CA-Related Overgrowth Spectrum. 2013 Aug 15 [updated 2022 Aug 25]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 23946963.
[8]	Dabska M. Malignant endovascular papillary angioendothelioma of the skin in childhood. Clinicopathologic study of 6 cases. Cancer. 1969 Sep; 24(3) 503-10. https://doi.org/10.1002/1097-0142(196909)24:3<503::aid-cncr2820240311>3.0.co;2-l PMID: 5343389
[9]	WHO Classification of Tumours Editorial Board. Paediatric tumours [Internet; beta version ahead of print]. Lyon (France): International Agency for Research on Cancer; 2022 [cited YYYY Mmm D]. (WHO classification of tumours series, 5th ed.; vol. 7). Available from: https://tumourclassification.iarc.who.int/chapters/44
[10]	Schwartz RA, Dabski C, Dabska M. The Dabska tumor: a thirty-year retrospect. Dermatology. 2000; 201(1): 1-5. https://doi.org/10.1159/000018419 PMID: 10971050.
[11]	Colmenero I, Hoeger PH. Vascular tumours in infants. Part II: vascular tumours of intermediate malignancy [corrected] and malignant tumours. Br J Dermatol. 2014 Sep; 171(3): 474-84. https://doi.org/10.1111/bjd.12835 Epub 2014 Jun 25. Erratum in: Br J Dermatol. 2015 Jan; 172(1): 307. PMID: 24965196.
[12]	Hughes M, Hao M, Luu M. PIK3CA vascular overgrowth syndromes: an update. Curr Opin Pediatr. 2020 Aug; 32(4): 539-546. https://doi.org/10.1097/MOP.0000000000000923 PMID: 32692051.
[13]	Blesinger H, Kaulfuß S, Aung T, Schwoch S, Prantl L, Rößler J, Wilting J, Becker J. PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations. PLoS One. 2018 Jul 9; 13(7): e0200343. https://doi.org/10.1371/journal.pone.0200343 PMID: 29985963; PMCID: PMC6037383.

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APA Style

Murray, J., Zafreen, S., Goodwin, S., Driver, C., Evans, C. (2024). Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation. Pathology and Laboratory Medicine, 8(1), 9-14. https://doi.org/10.11648/j.plm.20240801.12

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ACS Style

Murray, J.; Zafreen, S.; Goodwin, S.; Driver, C.; Evans, C. Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation. Pathol. Lab. Med. 2024, 8(1), 9-14. doi: 10.11648/j.plm.20240801.12

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AMA Style

Murray J, Zafreen S, Goodwin S, Driver C, Evans C. Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation. Pathol Lab Med. 2024;8(1):9-14. doi: 10.11648/j.plm.20240801.12

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@article{10.11648/j.plm.20240801.12,
  author = {Jacinta Murray and Sadia Zafreen and Susie Goodwin and Christopher Driver and Clair Evans},
  title = {Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation
},
  journal = {Pathology and Laboratory Medicine},
  volume = {8},
  number = {1},
  pages = {9-14},
  doi = {10.11648/j.plm.20240801.12},
  url = {https://doi.org/10.11648/j.plm.20240801.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.plm.20240801.12},
  abstract = {Papillary intralymphatic angioendothelioma (PILA) is a locally aggressive, rarely metastasising lymphatic tumour that typically arises within the skin and soft tissues. We report a case of PILA arising within the spleen of a 6-year-old boy with megacephaly-capillary malformation (MCAP/MC-M) syndrome. MCAP/MC-M represents part of the phosphatidylinositol-4,5-biphosphate 3 kinase catalytic subunit alpha (PIK3CA) related overgrowth spectrum (PROS). This is the 6th reported case in the literature of a splenic PILA and the 2nd known to have occurred in the context of a confirmed PIK3CA mutation. In reporting this case we review prior reports of PILA occurring within the spleen and discuss the potential role of the PIK3CA mutation in the aetiology of the lesion, and note a theoretical application of mammalian target of rapamycin (mTOR) inhibitors as a possible therapeutic strategy.
},
 year = {2024}
}

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TY  - JOUR
T1  - Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation

AU  - Jacinta Murray
AU  - Sadia Zafreen
AU  - Susie Goodwin
AU  - Christopher Driver
AU  - Clair Evans
Y1  - 2024/10/10
PY  - 2024
N1  - https://doi.org/10.11648/j.plm.20240801.12
DO  - 10.11648/j.plm.20240801.12
T2  - Pathology and Laboratory Medicine
JF  - Pathology and Laboratory Medicine
JO  - Pathology and Laboratory Medicine
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PB  - Science Publishing Group
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AB  - Papillary intralymphatic angioendothelioma (PILA) is a locally aggressive, rarely metastasising lymphatic tumour that typically arises within the skin and soft tissues. We report a case of PILA arising within the spleen of a 6-year-old boy with megacephaly-capillary malformation (MCAP/MC-M) syndrome. MCAP/MC-M represents part of the phosphatidylinositol-4,5-biphosphate 3 kinase catalytic subunit alpha (PIK3CA) related overgrowth spectrum (PROS). This is the 6th reported case in the literature of a splenic PILA and the 2nd known to have occurred in the context of a confirmed PIK3CA mutation. In reporting this case we review prior reports of PILA occurring within the spleen and discuss the potential role of the PIK3CA mutation in the aetiology of the lesion, and note a theoretical application of mammalian target of rapamycin (mTOR) inhibitors as a possible therapeutic strategy.

VL  - 8
IS  - 1
ER  -

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Author Information

Jacinta Murray

Department of Pathology, Royal Hospital for Children, Glasgow, United Kingdom

Contact Email

http://orcid.org/0009-0004-0850-2301
Sadia Zafreen

Department of Pathology, Aberdeen Royal Infirmary, Foresthill, Aberdeen, United Kingdom

Contact Email

http://orcid.org/0009-0009-0735-0488
Susie Goodwin

Department of Radiology, Royal Hospital for Children, Glasgow, United Kingdom

Contact Email

http://orcid.org/0009-0008-5238-994X
Christopher Driver

Department of Surgery, Royal Aberdeen Children’s Hospital, Aberdeen, United Kingdom

Contact Email

http://orcid.org/0009-0009-8901-433X
Clair Evans

Department of Pathology, Royal Hospital for Children, Glasgow, United Kingdom

Contact Email

http://orcid.org/0000-0002-5540-6361

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Plain Text BibTeX RIS

APA Style

Murray, J., Zafreen, S., Goodwin, S., Driver, C., Evans, C. (2024). Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation. Pathology and Laboratory Medicine, 8(1), 9-14. https://doi.org/10.11648/j.plm.20240801.12

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ACS Style

Murray, J.; Zafreen, S.; Goodwin, S.; Driver, C.; Evans, C. Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation. Pathol. Lab. Med. 2024, 8(1), 9-14. doi: 10.11648/j.plm.20240801.12

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AMA Style

Murray J, Zafreen S, Goodwin S, Driver C, Evans C. Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation. Pathol Lab Med. 2024;8(1):9-14. doi: 10.11648/j.plm.20240801.12

Copy | Download

@article{10.11648/j.plm.20240801.12,
  author = {Jacinta Murray and Sadia Zafreen and Susie Goodwin and Christopher Driver and Clair Evans},
  title = {Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation
},
  journal = {Pathology and Laboratory Medicine},
  volume = {8},
  number = {1},
  pages = {9-14},
  doi = {10.11648/j.plm.20240801.12},
  url = {https://doi.org/10.11648/j.plm.20240801.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.plm.20240801.12},
  abstract = {Papillary intralymphatic angioendothelioma (PILA) is a locally aggressive, rarely metastasising lymphatic tumour that typically arises within the skin and soft tissues. We report a case of PILA arising within the spleen of a 6-year-old boy with megacephaly-capillary malformation (MCAP/MC-M) syndrome. MCAP/MC-M represents part of the phosphatidylinositol-4,5-biphosphate 3 kinase catalytic subunit alpha (PIK3CA) related overgrowth spectrum (PROS). This is the 6th reported case in the literature of a splenic PILA and the 2nd known to have occurred in the context of a confirmed PIK3CA mutation. In reporting this case we review prior reports of PILA occurring within the spleen and discuss the potential role of the PIK3CA mutation in the aetiology of the lesion, and note a theoretical application of mammalian target of rapamycin (mTOR) inhibitors as a possible therapeutic strategy.
},
 year = {2024}
}

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TY  - JOUR
T1  - Papillary Intralymphatic Angioendothelioma of the Spleen: A Rare Lymphatic Tumour in the Context of a PIK3CA Mutation

AU  - Jacinta Murray
AU  - Sadia Zafreen
AU  - Susie Goodwin
AU  - Christopher Driver
AU  - Clair Evans
Y1  - 2024/10/10
PY  - 2024
N1  - https://doi.org/10.11648/j.plm.20240801.12
DO  - 10.11648/j.plm.20240801.12
T2  - Pathology and Laboratory Medicine
JF  - Pathology and Laboratory Medicine
JO  - Pathology and Laboratory Medicine
SP  - 9
EP  - 14
PB  - Science Publishing Group
SN  - 2640-4478
UR  - https://doi.org/10.11648/j.plm.20240801.12
AB  - Papillary intralymphatic angioendothelioma (PILA) is a locally aggressive, rarely metastasising lymphatic tumour that typically arises within the skin and soft tissues. We report a case of PILA arising within the spleen of a 6-year-old boy with megacephaly-capillary malformation (MCAP/MC-M) syndrome. MCAP/MC-M represents part of the phosphatidylinositol-4,5-biphosphate 3 kinase catalytic subunit alpha (PIK3CA) related overgrowth spectrum (PROS). This is the 6th reported case in the literature of a splenic PILA and the 2nd known to have occurred in the context of a confirmed PIK3CA mutation. In reporting this case we review prior reports of PILA occurring within the spleen and discuss the potential role of the PIK3CA mutation in the aetiology of the lesion, and note a theoretical application of mammalian target of rapamycin (mTOR) inhibitors as a possible therapeutic strategy.

VL  - 8
IS  - 1
ER  -

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