Alveolar soft part sarcoma

Alveolar soft part sarcoma
Other namesAlveolar soft-tissue sarcoma
Micrograph of an alveolar soft part sarcoma, showing the characteristic alveolar-like architecture and cells with eccentric nuclei and abundant eosinophilic cytoplasm. H&E stain.
SpecialtyOncology Edit this on Wikidata

Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows slowly and whose cell of origin is unknown.

ASPS arises mainly in children and young adults and can migrate (metastasize) into other parts of the body, typically the lungs and the brain. Typically, ASPS arises in muscles and deep soft tissue of the thigh or the leg (lower extremities), but can also appear in the upper extremities (hands, neck, and head). While ASPS is a soft tissue sarcoma, it can also spread and grow inside the bones.[1] Uncommon locations include Female genital tract,[2][3] Breast,[4] Heart,[5] Larynx,[6] Urinary bladder,[7] Mediastinum[8] and Spine.[9]

Etymology

  • The term alveolar comes from the microscopic pattern, visible during the analysis of slides of ASPS under the microscope in histopathology. The tumor cells seem to be arranged in the same pattern as the cells of the small air sacs (alveoli) in the lungs. However, this is just a structural similarity. ASPS was first described and characterized in 1952.[10]
  • ASPS is a sarcoma, and that indicates that this cancer initially arises from tissue of embryonic mesenchymal origin. (The fertilized egg divides and redivides forming a sphere. Early in embryogenesis, dimples appear in the poles of the sphere and burrow through the sphere forming an inner passage that will ultimately form the gut. Malignancies arising from cells that were originally part of the outer layer of the sphere and those that were part of the embryonic tunnel are termed carcinomas; malignancies arising from the cells between the outer layer and the inner burrow are termed sarcomas.)

Causes

Chromosomal analysis of ASPS shows the breaking and joining of two chromosomes in the tumor cells. A piece of chromosome X breaks and is joined to chromosome 17.[11] This translocation creates a fusion between two genes named ASPL and TFE3, which results in the formation of an aberrant protein (termed fusion protein) that is not found in normal cells. Two sorts of fusions between chromosome X and chromosome 17 are found in different ASPS tumors: type one and type two.

Dr. Marc Ladanyi at Memorial Sloan-Kettering Cancer Center, in New York City, has pioneered this work. The resultant fusion protein ASPL–TFE3 is a rogue transcription factor that is the driver of aberrant cellular behavior including uncontrolled cell division and enhanced angiogenesis.

Diagnosis

High-magnification micrograph showing the characteristic large cells with abundant eosinophilic, i.e. pink, cytoplasm and an eccentrically placed nucleus. H&E stain.

ASPS may exist in the patient's body for a long time before being diagnosed. It can grow large and push aside surrounding tissues for a long time before causing any discomfort. Therefore, ASPS symptoms may either be a painless swelling, or a soreness caused by compressed nerves or muscles, affecting the range of motion in the area.

Pathology

The definitive diagnosis of ASPS is based on its appearance under the microscope (i.e., its histomorphology), and presence of the characteristic chromosomal translocation (i.e., cytogenetics).

ASPS' histomorphologic features include an alveolar-like pattern at low magnification and the presence of large cells with abundant eosinophilic cytoplasm and eccentric nuclei. Calcifications are commonly present, as may be seen with slow-growing neoplasms.

Prognosis

Although ASPS displays a relatively indolent course, the ultimate prognosis is poor and is often characterized by late metastases.[12] Local recurrence is 11 to 50%.[13] Metastases often occur more than ten years after diagnosis and involve the lungs, liver, bone, brain and (rarely) lymph nodes.[14][15][16][17] Overall survival is 82% at 2 years and 56% at 5 years.[13] One series also reported that a 5 year disease free survival of 71% in patients presenting with localized disease, which was only 20% in patients presenting with metastasis.[15] Positive prognostic factors include small tumor size (< 5 cm), absence of metastases at presentation, younger age at diagnosis (< 10 years) and early detection at a completely resectable stage.[18][19] Negative prognostic factors include older age, tumor size > 10 cm, distant metastasis at diagnosis and primary site in the trunk.[13]

Treatment

Radical surgical resection is the treatment of choice. Excision of lung and brain metastasis may prolong survival.[14] There is no apparent benefit to adjuvant chemotherapy. Radiation may reduce the risk of local recurrence.[15] Clinical trial of crizotinib (c MET inhibitor) showed disease stabilization but no more help in tumor shrinkage.[20] Selected patients of multiple pulmonary metastases have responded to interferon alfa 2a.[21][22]

Epidemiology

ASPS is an extremely rare cancer. While sarcomas comprise about 1% of all newly diagnosed cancers, and 15% of all childhood cancers, ASPS comprises less than 1% of sarcomas. Patient age range is 1 - 78 years.[13] Most commonly seen in patients aged 15 - 35 years. 72% cases were < 30 years of age.[13] Research consistently demonstrates a strong female majority.[10][13][14][23] Female predominance is less pronounced in older patients (> 30 years) and children.[15][18][19] According to the American Cancer Society, about 9530 new cases of soft tissue sarcoma will be diagnosed in the USA in 2006. This predicts under 100 new cases of ASPS. Such low numbers of occurrence seriously impede the search for a cure by making it hard to gather any meaningful statistics about the disease. As a result, finding the best treatment option often involves making a lot of educated guesses.

Research

  • In terms of origin, it was recently demonstrated that although ASPS generally arises in muscle tissue, the cells do not express muscle markers at the mRNA level and more closely resemble mesenchymal stromal cells.[30]

References

  1. ↑ Park, Y. K.; Unni, K. K.; Kim, Y. W.; Han, C. S.; Yang, M. H.; Wenger, D. E.; Sim, F. H.; Lucas, D. R.; Ryan, J. R.; Nadim, Y. A.; Nojima, T.; Fletcher, C. D. (November 1999). "Primary alveolar soft part sarcoma of bone". Histopathology. 35 (5): 411–417. doi:10.1046/j.1365-2559.1999.035005411.x. ISSN 0309-0167. PMID 10583555.
  2. ↑ Schoolmeester, J. Kenneth; Carlson, Joseph; Keeney, Gary L.; Fritchie, Karen J.; Oliva, Esther; Young, Robert H.; Nucci, Marisa R. (May 2017). "Alveolar Soft Part Sarcoma of the Female Genital Tract: A Morphologic, Immunohistochemical, and Molecular Cytogenetic Study of 10 Cases With Emphasis on its Distinction From Morphologic Mimics". The American Journal of Surgical Pathology. 41 (5): 622–632. doi:10.1097/PAS.0000000000000796. ISSN 1532-0979. PMID 28009610.
  3. ↑ Nielsen, G. P.; Oliva, E.; Young, R. H.; Rosenberg, A. E.; Dickersin, G. R.; Scully, R. E. (October 1995). "Alveolar soft-part sarcoma of the female genital tract: a report of nine cases and review of the literature". International Journal of Gynecological Pathology: Official Journal of the International Society of Gynecological Pathologists. 14 (4): 283–292. doi:10.1097/00004347-199510000-00001. ISSN 0277-1691. PMID 8598329.
  4. ↑ Wu, Julie; Brinker, David A.; Haas, Mark; Montgomery, Elizabeth A.; Argani, Pedram (January 2005). "Primary alveolar soft part sarcoma (ASPS) of the breast: report of a deceptive case with xanthomatous features confirmed by TFE3 immunohistochemistry and electron microscopy". International Journal of Surgical Pathology. 13 (1): 81–85. doi:10.1177/106689690501300112. ISSN 1066-8969. PMID 15735860.
  5. ↑ Luo, Jean; Melnick, Steven; Rossi, Anthony; Burke, Redmond P.; Pfeifer, John D.; Dehner, Louis P. (2008). "Primary cardiac alveolar soft part sarcoma. A report of the first observed case with molecular diagnostics corroboration". Pediatric and Developmental Pathology: The Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 11 (2): 142–147. doi:10.2350/06-12-0199.1. ISSN 1093-5266. PMID 17378669.
  6. ↑ Kusafuka, Kimihide; Muramatsu, Koji; Yabuzaki, Tsugumi; Ishiki, Hiroto; Asano, Rie; Kamijo, Tomoyuki; Iida, Yoshiyuki; Ebihara, Mitsuru; Onitsuka, Testuro; Kameya, Toru (September 2008). "Alveolar soft part sarcoma of the larynx: a case report of an unusual location with immunohistochemical and ultrastructural analyses". Head & Neck. 30 (9): 1257–1263. doi:10.1002/hed.20766. ISSN 1097-0347. PMID 18286485.
  7. ↑ Amin, Mahul B.; Patel, Rajiv M.; Oliveira, Pedro; Cabrera, Rafael; Carneiro, Victor; Preto, Mota; Balzer, Bonnie; Folpe, Andrew L. (October 2006). "Alveolar soft-part sarcoma of the urinary bladder with urethral recurrence: a unique case with emphasis on differential diagnoses and diagnostic utility of an immunohistochemical panel including TFE3". The American Journal of Surgical Pathology. 30 (10): 1322–1325. doi:10.1097/01.pas.0000213298.34520.2b. ISSN 0147-5185. PMID 17001165.
  8. ↑ Flieder, D. B.; Moran, C. A.; Suster, S. (November 1997). "Primary alveolar soft-part sarcoma of the mediastinum: a clinicopathological and immunohistochemical study of two cases". Histopathology. 31 (5): 469–473. doi:10.1046/j.1365-2559.1997.2690871.x. ISSN 0309-0167. PMID 9416489.
  9. ↑ Zhao, Chenglong; Gao, Xin; Yang, Jian; Li, Zhenxi; Cai, Xiaopan; Tan, Tao; Hou, Tianhui; Yan, Wangjun; Yang, Xinghai; Yang, Cheng; Liu, Tielong; Xiao, Jianru (2017-02-06). "Surgical management and outcome of spinal alveolar soft part sarcoma (ASPA): a case series of five patients and literature review". World Journal of Surgical Oncology. 15 (1): 39. doi:10.1186/s12957-017-1112-9. ISSN 1477-7819. PMC 5294916. PMID 28166791.
  10. 1 2 Christopherson WM, Foote FW, Stewart FW (1952). "Alveolar soft part sarcomas: structurally characteristic tumors of uncertain histogenesis". Cancer. 1952 (5): 100–111. doi:10.1002/1097-0142(195201)5:1<100::aid-cncr2820050112>3.0.co;2-k. PMID 14886902.
  11. ↑ Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, et al. (January 2001). "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25". Oncogene. 20 (1): 48–57. doi:10.1038/sj.onc.1204074. PMID 11244503.
  12. ↑ Shelke P, Sarode GS, Sarode SC, Anand R, Prajapati G, Patil S (2018). "Alveolar soft-part sarcoma of the oral cavity: A review of literature". Rare Tumors. 10 2036361318810907. doi:10.1177/2036361318810907. PMC 6299302. PMID 30574289.
  13. 1 2 3 4 5 6 Wang, Haotong; Jacobson, Alex; Harmon, David C.; Choy, Edwin; Hornicek, Francis J.; Raskin, Kevin A.; Chebib, Ivan A.; DeLaney, Thomas F.; Chen, Yen-Lin E. (April 2016). "Prognostic factors in alveolar soft part sarcoma: A SEER analysis". Journal of Surgical Oncology. 113 (5): 581–586. doi:10.1002/jso.24183. ISSN 0022-4790. PMID 26804150.
  14. 1 2 3 Lieberman, P. H.; Brennan, M. F.; Kimmel, M.; Erlandson, R. A.; Garin-Chesa, P.; Flehinger, B. Y. (1989-01-01). "Alveolar soft-part sarcoma. A clinico-pathologic study of half a century". Cancer. 63 (1): 1–13. doi:10.1002/1097-0142(19890101)63:1<1::aid-cncr2820630102>3.0.co;2-e. ISSN 0008-543X. PMID 2642727.
  15. 1 2 3 4 Portera, C. A.; Ho, V.; Patel, S. R.; Hunt, K. K.; Feig, B. W.; Respondek, P. M.; Yasko, A. W.; Benjamin, R. S.; Pollock, R. E.; Pisters, P. W. (2001-02-01). "Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution". Cancer. 91 (3): 585–591. doi:10.1002/1097-0142(20010201)91:3<585::aid-cncr1038>3.0.co;2-0. ISSN 0008-543X. PMID 11169942.
  16. ↑ Pennacchioli, Elisabetta; Fiore, Marco; Collini, Paola; Radaelli, Stefano; Dileo, Palma; Stacchiotti, Silvia; Casali, Paolo G.; Gronchi, Alessandro (December 2010). "Alveolar soft part sarcoma: clinical presentation, treatment, and outcome in a series of 33 patients at a single institution". Annals of Surgical Oncology. 17 (12): 3229–3233. doi:10.1245/s10434-010-1186-x. ISSN 1534-4681. PMID 20593242.
  17. ↑ Flores, Ricardo J.; Harrison, Douglas J.; Federman, Noah C.; Furman, Wayne L.; Huh, Winston W.; Broaddus, Emily G.; Okcu, Mehmet F.; Venkatramani, Rajkumar (May 2018). "Alveolar soft part sarcoma in children and young adults: A report of 69 cases". Pediatric Blood & Cancer. 65 (5) e26953. doi:10.1002/pbc.26953. ISSN 1545-5017. PMID 29350467.
  18. 1 2 Fanburg-Smith, J. C.; Miettinen, M.; Folpe, A. L.; Weiss, S. W.; Childers, E. L. B. (November 2004). "Lingual alveolar soft part sarcoma; 14 cases: novel clinical and morphological observations". Histopathology. 45 (5): 526–537. doi:10.1111/j.1365-2559.2004.01966.x. ISSN 0309-0167. PMID 15500657.
  19. 1 2 Pappo, A. S.; Parham, D. M.; Cain, A.; Luo, X.; Bowman, L. C.; Furman, W. L.; Rao, B. N.; Pratt, C. B. (February 1996). "Alveolar soft part sarcoma in children and adolescents: clinical features and outcome of 11 patients". Medical and Pediatric Oncology. 26 (2): 81–84. doi:10.1002/(SICI)1096-911X(199602)26:2<81::AID-MPO2>3.0.CO;2-Q. ISSN 0098-1532. PMID 8531857.
  20. ↑ Schöffski, P.; Wozniak, A.; Kasper, B.; Aamdal, S.; Leahy, M. G.; Rutkowski, P.; Bauer, S.; Gelderblom, H.; Italiano, A.; Lindner, L. H.; Hennig, I.; Strauss, S.; Zakotnik, B.; Anthoney, A.; Albiges, L. (2018-03-01). "Activity and safety of crizotinib in patients with alveolar soft part sarcoma with rearrangement of TFE3: European Organization for Research and Treatment of Cancer (EORTC) phase II trial 90101 'CREATE'". Annals of Oncology: Official Journal of the European Society for Medical Oncology. 29 (3): 758–765. doi:10.1093/annonc/mdx774. ISSN 1569-8041. PMID 29216400.
  21. ↑ Kuriyama, K.; Todo, S.; Hibi, S.; Morimoto, A.; Imashuku, S. (November 2001). "Alveolar soft part sarcoma with lung metastases. Response to interferon alpha-2a?". Medical and Pediatric Oncology. 37 (5): 482–483. doi:10.1002/mpo.1237. ISSN 0098-1532. PMID 11745882.
  22. ↑ Roozendaal, K. J.; de Valk, B.; ten Velden, J. J. A.; van der Woude, H. J.; Kroon, B. B. R. (2003-07-21). "Alveolar soft-part sarcoma responding to interferon alpha-2b". British Journal of Cancer. 89 (2): 243–245. doi:10.1038/sj.bjc.6601074. ISSN 0007-0920. PMC 2394261. PMID 12865909.
  23. ↑ Ogose, Akira; Yazawa, Yasuo; Ueda, Takafumi; Hotta, Tetsuo; Kawashima, Hiroyuki; Hatano, Hiroshi; Morita, Tetsuro; Japanese Musculoskeletal Oncology Group (2003). "Alveolar soft part sarcoma in Japan: multi-institutional study of 57 patients from the Japanese Musculoskeletal Oncology Group". Oncology. 65 (1): 7–13. doi:10.1159/000071199. ISSN 0030-2414. PMID 12837977.
  24. ↑ Vistica DT, Hollingshead M, Borgel SD, Kenney S, Stockwin LH, Raffeld M, et al. (August 2009). "Therapeutic vulnerability of an in vivo model of alveolar soft part sarcoma (ASPS) to antiangiogenic therapy". Journal of Pediatric Hematology/Oncology. 31 (8): 561–70. doi:10.1097/MPH.0b013e3181a6e043. PMC 2784654. PMID 19636271.
  25. ↑ Kenney S, Vistica DT, Stockwin LH, Burkett S, Hollingshead MG, Borgel SD, et al. (July 2011). "ASPS-1, a novel cell line manifesting key features of alveolar soft part sarcoma". Journal of Pediatric Hematology/Oncology. 33 (5): 360–8. doi:10.1097/MPH.0b013e3182002f9f. PMC 7518051. PMID 21552147. S2CID 25794748.
  26. ↑ Tsuda M, Davis IJ, Argani P, Shukla N, McGill GG, Nagai M, et al. (February 2007). "TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition" (PDF). Cancer Research. 67 (3): 919–29. doi:10.1158/0008-5472.CAN-06-2855. PMID 17283122.
  27. ↑ Kummar S, Allen D, Monks A, Polley EC, Hose CD, Ivy SP, et al. (June 2013). "Cediranib for metastatic alveolar soft part sarcoma". Journal of Clinical Oncology. 31 (18): 2296–302. doi:10.1200/JCO.2012.47.4288. PMC 3677840. PMID 23630200.
  28. ↑ Brahmi M, Vanacker H, Dufresne A (July 2020). "Novel therapeutic options for alveolar soft part sarcoma: antiangiogenic therapy, immunotherapy and beyond". Current Opinion in Oncology. 32 (4): 295–300. doi:10.1097/CCO.0000000000000652. PMID 32541316.
  29. ↑ Goodwin ML, Jin H, Straessler K, Smith-Fry K, Zhu JF, Monument MJ, et al. (December 2014). "Modeling alveolar soft part sarcomagenesis in the mouse: a role for lactate in the tumor microenvironment". Cancer Cell. 26 (6): 851–862. doi:10.1016/j.ccell.2014.10.003. PMC 4327935. PMID 25453902.
  30. ↑ Stockwin LH (2020-06-19). "Alveolar soft-part sarcoma (ASPS) resembles a mesenchymal stromal progenitor: evidence from meta-analysis of transcriptomic data". PeerJ. 8 e9394. Bibcode:2020PeerJ...8e9394S. doi:10.7717/peerj.9394. PMC 7307565. PMID 32596059.
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