Abstract
It is difficult to define what is considered a “rare” tumor in children. The rarity can be relative, i.e., common in adults but the occurrence in children is rare (such as breast cancer or colorectal carcinoma). Rarity can also be an absolute term, defined by the number of cases per 100,000 or per million. Other opinions suggested that tumors are considered rare when there is no unified protocol of management. The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) defined a rare childhood cancer as one that has an incidence rate less than 2 per million per year, is not considered in clinical trials, or both.
This chapter discusses some of the rare tumors in children. This includes lung tumors such as inflammatory myofibroblastic pseudotumor, pulmonary hamartoma, pulmonary carcinoid tumor, and pulmonary metastatic tumors. It also includes cardiac tumors, Thymic neoplasms, and peripheral nerve sheath tumors.
References
Murphy AJ, Lindsay Talbot AMD. Mediastinum, lung, and chest wall tumors. In: Losty PD, Quaglia ML, Sarnacki S, Jörg Fuchs TT, editors. Pediatric surgical oncology. 1st ed. Boca Raton: CRC Press; 2022. p. 97–112.
Weldon CB, Shamberger RC. Pediatric pulmonary tumors: primary and metastatic. Semin Pediatr Surg [Internet]. 2008;17(1):17–29. Available from: https://www.sciencedirect.com/science/article/pii/S1055858607000698
Dishop MK, Kuruvilla S. Primary and metastatic lung tumors in the pediatric population: a review and 25-year experience at a large children’s hospital. Arch Pathol Lab Med. 2008;132(7):1079–103.
Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Cin PD, Pinkus JL, et al. TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. Am J Pathol. 2000;157(2):377–84.
Hartman GE, Shochat SJ. Primary pulmonary neoplasms of childhood: a review. Ann Thorac Surg. 1983;36(1):108–19.
Chan YF, White J, Brash H. Metachronous pulmonary and cerebral inflammatory pseudotumor in a child. Pediatr Pathol [Internet]. 1994;14(5):805–15. https://doi.org/10.3109/15513819409037678.
Theilen T-M, Soerensen J, Bochennek K, Becker M, Schwabe D, Rolle U, et al. Crizotinib in ALK+ inflammatory myofibroblastic tumors – current experience and future perspectives. Pediatr Blood Cancer [Internet]. 2018;65(4):e26920. https://doi.org/10.1002/pbc.26920.
McGinnis M, Jacobs G, El-Naggar A, Redline RW. Congenital peribronchial myofibroblastic tumor (so-called “congenital leiomyosarcoma”). A distinct neonatal lung lesion associated with nonimmune hydrops fetalis. Mod Pathol [Internet]. 1993;6(4):487–92. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8415597
Messinger YH, Stewart DR, Priest JR, Williams GM, Harris AK, Schultz KAP, et al. Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer [Internet]. 2015;121(2):276–85. https://doi.org/10.1002/cncr.29032.
Smith NJ, Mukherjee D, Wang Y, Brazauskas R, Nelson AA, Cortina CS. Epidemiology and outcomes of primary pediatric lung malignancies: updates from the SEER database. Am J Surg [Internet]. 2021;222(4):861–6. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0002961021000556
Dehner LP, Messinger YH, Schultz KAP, Williams GM, Wikenheiser-Brokamp K, Hill DA. Pleuropulmonary blastoma: evolution of an entity as an entry into a familial tumor predisposition syndrome. Pediatr Dev Pathol [Internet]. 18(6):504–11. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26698637
Bauer AJ, Stewart DR, Kamihara J, Harris AK, Turner J, Shah R, et al. DICER1 and associated conditions: identification of at-risk individuals and recommended surveillance strategies-response. Clin Cancer Res [Internet]. 2019;25(5):1689–90. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30824630
Dehner LP, Schultz KA, Hill DA. Pleuropulmonary blastoma: more than a lung neoplasm of childhood. Mo Med [Internet]. 2019;116(3):206–10. Available from: http://www.ncbi.nlm.nih.gov/pubmed/31527943 http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC6690274
Feinberg A, Hall NJ, Williams GM, Schultz KAP, Miniati D, Hill DA, et al. Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? J Pediatr Surg [Internet]. 2016;51(1):33–7. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0022346815006284
Lichtenberger JP, Biko DM, Carter BW, Pavio MA, Huppmann AR, Chung EM. Primary lung tumors in children: radiologic-pathologic correlation. Radiographics. 2018;38(7):2151–72.
Harting MT, Blakely ML. Management of osteosarcoma pulmonary metastases. Semin Pediatr Surg [Internet]. 2006;15(1):25–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16458843
Ahmed G, Zamzam M, Kamel A, Ahmed S, Salama A, Zaki I, et al. Effect of timing of pulmonary metastasis occurrence on the outcome of metastasectomy in osteosarcoma patients. J Pediatr Surg [Internet]. 2019;54(4):775–9. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0022346818303944
Kayton ML, Huvos AG, Casher J, Abramson SJ, Rosen NS, Wexler LH, et al. Computed tomographic scan of the chest underestimates the number of metastatic lesions in osteosarcoma. J Pediatr Surg [Internet]. 2006;41(1):200–6. Available from: https://www.sciencedirect.com/science/article/pii/S0022346805007669
Fernandez-Pineda I, Daw NC, McCarville B, Emanus LJ, Rao BN, Davidoff AM, et al. Patients with osteosarcoma with a single pulmonary nodule on computed tomography: a single-institution experience. J Pediatr Surg [Internet]. 2012;47(6):1250–4. Available from: https://www.sciencedirect.com/science/article/pii/S0022346812002734
Karplus G, McCarville MB, Smeltzer MP, Spyridis G, Rao BN, Davidoff A, et al. Should contralateral exploratory thoracotomy be advocated for children with osteosarcoma and early unilateral pulmonary metastases? J Pediatr Surg [Internet]. 2009;44(4):665–71. Available from: https://www.sciencedirect.com/science/article/pii/S0022346808009172
Su WT, Chewning J, Abramson S, Rosen N, Gholizadeh M, Healey J, et al. Surgical management and outcome of osteosarcoma patients with unilateral pulmonary metastases. J Pediatr Surg [Internet]. 2004;39(3):418–23. Available from: https://www.sciencedirect.com/science/article/pii/S0022346803008881
Letourneau PA, Shackett B, Xiao L, Trent J, Tsao KJ, Lally K, et al. Resection of pulmonary metastases in pediatric patients with Ewing sarcoma improves survival. J Pediatr Surg [Internet]. 2011;46(2):332–5. Available from: https://www.sciencedirect.com/science/article/pii/S0022346810010006
Rodeberg D, Arndt C, Breneman J, Lyden E, Donaldson S, Paidas C, et al. Characteristics and outcomes of rhabdomyosarcoma patients with isolated lung metastases from IRS-IV. J Pediatr Surg [Internet]. 2005;40(1):256–62. Available from: https://www.sciencedirect.com/science/article/pii/S0022346804006487
Meyers RL, Katzenstein HM, Krailo M, McGahren ED, Malogolowkin MH. Surgical resection of pulmonary metastatic lesions in children with hepatoblastoma. J Pediatr Surg [Internet]. 2007;42(12):2050–6. Available from: https://www.sciencedirect.com/science/article/pii/S0022346807005933
Schnater JM, Aronson DC, Plaschkes J, Perilongo G, Brown J, Otte J-B, et al. Surgical view of the treatment of patients with hepatoblastoma: results from the first prospective trial of the International Society of Pediatric Oncology Liver Tumor Study Group. Cancer [Internet]. 2002;94(4):1111–20. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11920482
Kemp CD, Ripley RT, Mathur A, Steinberg SM, Nguyen DM, Fojo T, et al. Pulmonary resection for metastatic adrenocortical carcinoma: the National Cancer Institute Experience. Ann Thorac Surg [Internet]. 2011;92(4):1195–200. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0003497511011520
Lam KY, Dickens P, Chan AC. Tumors of the heart. A 20-year experience with a review of 12,485 consecutive autopsies. Arch Pathol Lab Med [Internet]. 1993;117(10):1027–31. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8215825
Beghetti M, Gow RM, Haney I, Mawson J, Williams WG, Freedom RM. Pediatric primary benign cardiac tumors: a 15-year review. Am Heart J [Internet]. 1997;134(6):1107–14. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0002870397700322
Holley DG, Martin GR, Brenner JI, Fyfe DA, Huhta JC, Kleinman CS, et al. Diagnosis and management of fetal cardiac tumors: a multicenter experience and review of published reports. J Am Coll Cardiol [Internet]. 1995;26(2):516–20. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7608458
Uzun O, Wilson DG, Vujanic GM, Parsons JM, De Giovanni JV. Cardiac tumours in children. Orphanet J Rare Dis. 2007;2(1):1–14.
Groves AM, Fagg NL, Cook AC, Allan LD. Cardiac tumours in intrauterine life. Arch Dis Child [Internet]. 1992;67(10 Spec No):1189–92. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1444556
Harding CO, Pagon RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet [Internet]. 1990;37(4):443–6. https://doi.org/10.1002/ajmg.1320370402.
Nir A, Tajik AJ, Freeman WK, Seward JB, Offord KP, Edwards WD, et al. Tuberous sclerosis and cardiac rhabdomyoma. Am J Cardiol [Internet]. 1995;76(5):419–21. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0002914999801179
Krymskaya VP. Tumour suppressors hamartin and tuberin: intracellular signalling. Cell Signal [Internet]. 2003;15(8):729–39. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0898656803000408
Paladin D, Palmieri S, Russo MG, Pacileo G. Cardiac multiple rhabdomyomatosis: prenatal diagnosis and natural history. Ultrasound Obstet Gynecol [Internet]. 1996;7(1):84–5. https://doi.org/10.1046/j.1469-0705.1996.07010084.x.
Takach TJ, Reul GJ, Ott DA, Cooley DA. Primary cardiac tumors in infants and children: immediate and long-term operative results. Ann Thorac Surg [Internet]. 1996;62(2):559–64. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8694623
Isaacs H. Fetal and neonatal cardiac tumors. Pediatr Cardiol [Internet]. 2004;25(3):252–73. https://doi.org/10.1007/s00246-003-0590-4.
Burke AP, Rosado-de-Christenson M, Templeton PA, Virmani R. Cardiac fibroma: clinicopathologic correlates and surgical treatment. J Thorac Cardiovasc Surg [Internet]. 1994;108(5):862–70. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7967668
Kabbani SS, Jokhadar M, Meada R, Jamil H, Abdun F, Sandouk A, et al. Atrial myxoma: report of 24 operations using the biatrial approach. Ann Thorac Surg [Internet]. 1994;58(2):483–7. Available from: https://linkinghub.elsevier.com/retrieve/pii/0003497594922349
Malhotra V, Ferrans VJ, Virmani R. Infantile histiocytoid cardiomyopathy: three cases and literature review. Am Heart J [Internet]. 1994;128(5):1009–21. Available from: https://linkinghub.elsevier.com/retrieve/pii/0002870394906017
Shapiro LM. Cardiac tumours: diagnosis and management. Heart [Internet]. 2001;85(2):218–22. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11156679
Guleria P, Jain D. Thymic lesions of the paediatric age group: a comprehensive review of non-neoplastic and neoplastic etiologies. Mediastinum. 2019;3:24.
Napieralska A, Miszczyk L. Thymic tumours in children. Pediatr Rep. 2022;14(1):1–7.
Takeda S, Miyoshi S, Akashi A, Ohta M, Minami M, Okumura M, et al. Clinical spectrum of primary mediastinal tumors: a comparison of adult and pediatric populations at a single Japanese institution. J Surg Oncol [Internet]. 2003;83(1):24–30. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12722093
Wright CD. Management of thymomas. Crit Rev Oncol Hematol [Internet]. 2008;65(2):109–20. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1040842807000819
Suster S, Moran CA. Thymic carcinoma: spectrum of differentiation and histologic types. Pathology [Internet]. 1998;30(2):111–22. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0031302516349145
Stachowicz-Stencel T, Orbach D, Brecht I, Schneider D, Bien E, Synakiewicz A, et al. Thymoma and thymic carcinoma in children and adolescents: a report from the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT). Eur J Cancer [Internet]. 2015;51(16):2444–52. https://doi.org/10.1016/j.ejca.2015.06.121.
Liang X, Lovell MA, Capocelli KE, Albano EA, Birch S, Keating AK, et al. Thymoma in children: report of 2 cases and review of the literature. Pediatr Dev Pathol [Internet]. 13(3):202–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20055684
Stachowicz-Stencel T, Synakiewicz A, Cornet M, Ferrari A, Garassino M, Masip JR, et al. Thymoma and thymic carcinoma in children and adolescents: the EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021;68(S4).
Saha S, Suhani S, Basak A, Agarwal N, Dewan P. Pediatric thymoma with a difference: report of a case and review of literature. J Surg Tech Case Rep [Internet]. 6(2):64–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25598946
Ocal T, Türken A, Ciftçi AO, Senocak ME, Tanyel FC, Büyükpamukçu N. Thymic enlargement in childhood. Turk J Pediatr [Internet]. 42(4):298–303. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11196746
Okumura M, Shiono H, Minami M, Inoue M, Utsumi T, Kadota Y, et al. Clinical and pathological aspects of thymic epithelial tumors. Gen Thorac Cardiovasc Surg [Internet]. 2008;56(1):10–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18213465
Detterbeck FC, Nicholson AG, Kondo K, Van Schil P, Moran C. The Masaoka-Koga stage classification for thymic malignancies: clarification and definition of terms. J Thorac Oncol [Internet]. 2011;6(7):S1710–6. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1556086415328963
Dadmanesh F, Sekihara T, Rosai J. Histologic typing of thymoma according to the new World Health Organization classification. Chest Surg Clin N Am [Internet]. 2001;11(2):407–20. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11413764
Rod J, Orbach D, Verité C, Coze C, Stephan JL, Varlet F, et al. Surgical management of thymic epithelial tumors in children: lessons from the French Society of pediatric oncology and review of the literature. Pediatr Blood Cancer [Internet]. 2014;61(11):1910–5. https://doi.org/10.1002/pbc.25159.
Ng VY, Scharschmidt TJ, Mayerson JL, Fisher JL. Incidence and survival in sarcoma in the United States: a focus on musculoskeletal lesions. Anticancer Res [Internet]. 2013;33(6):2597–604. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23749914
LaFemina J, Qin L-X, Moraco NH, Antonescu CR, Fields RC, Crago AM, et al. Oncologic outcomes of sporadic, neurofibromatosis-associated, and radiation-induced malignant peripheral nerve sheath tumors. Ann Surg Oncol [Internet]. 2013;20(1):66–72. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22878618
Ferrari A, Bisogno G, Carli M. Management of childhood malignant peripheral nerve sheath tumor. Paediatr Drugs [Internet]. 2007;9(4):239–48. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17705563
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1 – a consensus overview. Hum Pathol [Internet]. 2017;67:1–10. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0046817717301673
Hulsebos TJM, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosi. Am J Hum Genet [Internet]. 2007;80(4):805–10. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17357086
Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, et al. Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Acta Neuropathol. 2021;141(1):101–16.
Lim IIP, Rodeberg D, Dasgupta R. Non-rhabmyosarcoma soft tissue tumors. In: Pediatric surgical oncology [Internet]. Boca Raton: CRC Press; 2022. p. 216–24. https://doi.org/10.1201/9781351166126-23.
Ahn D, Lee GJ, Sohn JH, Jeong JY. Fine-needle aspiration cytology versus core-needle biopsy for the diagnosis of extracranial head and neck schwannoma. Head Neck [Internet]. 2018;40(12):2695–700. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30457183
Martin E, Flucke UE, Coert JH, van Noesel MM. Treatment of malignant peripheral nerve sheath tumors in pediatric NF1 disease. Childs Nerv Syst [Internet]. 2020;36(10):2453–62. Available from: http://www.ncbi.nlm.nih.gov/pubmed/32494969
Endo M, Yamamoto H, Setsu N, Kohashi K, Takahashi Y, Ishii T, et al. Prognostic significance of AKT/mTOR and MAPK pathways and antitumor effect of mTOR inhibitor in NF1-related and sporadic malignant peripheral nerve sheath tumors. Clin Cancer Res [Internet]. 2013;19(2):450–61. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23209032
Valentin T, Le Cesne A, Ray-Coquard I, Italiano A, Decanter G, Bompas E, et al. Management and prognosis of malignant peripheral nerve sheath tumors: the experience of the French Sarcoma Group (GSF-GETO). Eur J Cancer [Internet]. 2016;56:77–84. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26824706
Alaggio R, Turrini R, Boldrin D, Merlo A, Gambini C, Ferrari A, et al. Survivin expression and prognostic significance in pediatric malignant peripheral nerve sheath tumors (MPNST). PLoS One [Internet]. 2013;8(11):e80456. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24303016
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Mostafa, I.A. (2023). Rare Tumors in Children. In: Lakhoo, K., Abdelhafeez, A.H., Abib, S. (eds) Pediatric Surgical Oncology. Springer, Cham. https://doi.org/10.1007/978-3-030-71113-9_120-1
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DOI: https://doi.org/10.1007/978-3-030-71113-9_120-1
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