|Embryonic origin|| The histogenesis of this tumour is still unknown, despite immunohistochemestry studies and electron microscopy. It may have a myogenic origin, and might be a variant of rhabdomyosarcoma.|
|Epidemiology|| Rare tumour: represents less than 1% of soft tissues sarcomas of adults and 1-2% of soft tissues sarcomas in children. |
Occurs most often in the young adult, less frequently in children.
Median age is 20 yrs in female patients, and 30 yrs in male patients. More frequently, patients are females (ratio M/F is 2/3).
|Clinics|| Involve the muscles and soft tissues, in particular those of the lower extremities (buttocks, thighs and legs). This represents more than half cases in the adults. It may also arise in the upper extremities, in the head and neck regions, especially in the child, but it can also have extra muscular localizations, such as the female genital tract, the trunk, the mediastinum, or the retroperitoneum. |
Metastases are frequent. They occur mainly in lungs, bones, and brain.
Symptoms at diagnosis may be pain and/or swelling. Diagnosis is often retarded.
|Pathology|| Well circumscribed tumours with a multinodular pattern, haemorrhagic and necrotic. |
Microcopically, exhibits an alveoloar structure, the center of the alveolar space being formed by detachment of necrotic cells, and with surronding capillaries (there is a more solid pattern in children).
Cells are large, with abundant cytoplasm. Mitoses are rare.
Secretory process with the formation of cytoplasmic membrane-bound crystals (PAS+, diastase resistant) can often be seen with electron microscopy, a feature of great diagnostic value (they are pathognomic). These granules contain monocarboxylate transporter 1 ( MCT1)- CD147 complexes.
Immunochemistry: in general, alveolar soft part sarcomas are negative for neuroendocrin and epithelial markers, and often positive for vimentin, muscle-specific actin, and desmin. The strong nuclear staining of an anti C-term TFE3 can be used for diagnosis (although cytogenetics and/or molecular genetics are the most relevant tools for diagnosis).
To be noted is that a subset of renal cell carcinomas, the primary renal ASPSCR1-TFE3 tumour, share some morphological features with the alveolar soft part sarcoma (it may be a differential diagnosis); they also share a common genetic substratum.
|Treatment|| Primary tumours: large surgical excision (a complete resection is of great importance) and radiation. |
Metastases: chemotherapy, with or without radiation or surgery, depending on the number of metastases.
|Evolution|| Slow growing tumour, but highly angiogenic, which favours metastases dissemination. |
Metastases appear in more than half of the patients who presented without metastases at diagnosis (up to 70 % in one study); however, there is a long disease-free interval before appearence of metastases (median 6 yrs) in these patients.
|Prognosis|| Relatively indolent clinical course. In one study, overall survival of adult patients without metastases reached 87% at 5 yrs, but that of adult patients with metastases at diagnosis was only 20% at 5 yrs, with a median survival of 40 mths. Pediatric cases had a better prognosis, with a 5 yrs survival of 80% for all cases included, reaching 91% in cases without metastases.|
Median survival in patients without metastases at diagnosis was noted above 10 yrs in a large -but old (period 1923-1986)- study, and it may be expected that progress has been made. Due to the rarity of the disease and its long course, survival data are outdated.
| Alveolar soft part sarcoma: a rare and enigmatic entity.|
| Anderson ME, Hornicek FJ, Gebhardt MC, Raskin KA, Mankin HJ|
| Clinical orthopaedics and related research. 2005 ; 438 : 144-148.|
| Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents.|
| Argani P, Antonescu CR, Illei PB, Lui MY, Timmons CF, Newbury R, Reuter VE, Garvin AJ, Perez-Atayde AR, Fletcher JA, Beckwith JB, Bridge JA, Ladanyi M|
| The American journal of pathology. 2001 ; 159 (1) : 179-192.|
| Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas.|
| Aulmann S, Longerich T, Schirmacher P, Mechtersheimer G, Penzel R|
| Histopathology. 2007 ; 50 (7) : 881-886.|
| Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group.|
| Casanova M, Ferrari A, Bisogno G, Cecchetto G, Basso E, De Bernardi B, Indolfi P, Fossati Bellani F, Carli M|
| Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2000 ; 11 (11) : 1445-1449.|
| Molecular genetic, cytogenetic, and immunohistochemical characterization of alveolar soft-part sarcoma. Implications for cell of origin.|
| Cullinane C, Thorner PS, Greenberg ML, Kwan Y, Kumar M, Squire J|
| Cancer. 1992 ; 70 (10) : 2444-2450.|
| Alveolar soft-part sarcoma: a review and update.|
| Folpe AL, Deyrup AT|
| Journal of clinical pathology. 2006 ; 59 (11) : 1127-1132.|
| Alveolar soft-part sarcoma: further evidence by FISH for the involvement of chromosome band 17q25.|
| Heimann P, Devalck C, Debusscher C, Sariban E, Vamos E|
| Genes, chromosomes & cancer. 1998 ; 23 (2) : 194-197.|
| Nonrandom cell-cycle timing of a somatic chromosomal translocation: The t(X;17) of alveolar soft-part sarcoma occurs in G2.|
| Huang HY, Lui MY, Ladanyi M|
| Genes, chromosomes & cancer. 2005 ; 44 (2) : 170-176.|
| Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature.|
| Joyama S, Ueda T, Shimizu K, Kudawara I, Mano M, Funai H, Takemura K, Yoshikawa H|
| Cancer. 1999 ; 86 (7) : 1246-1250.|
| Clinical presentation, treatment, and outcome of alveolar soft part sarcoma in children, adolescents, and young adults.|
| Kayton ML, Meyers P, Wexler LH, Gerald WL, LaQuaglia MP|
| Journal of pediatric surgery. 2006 ; 41 (1) : 187-193.|
| The precrystalline cytoplasmic granules of alveolar soft part sarcoma contain monocarboxylate transporter 1 and CD147.|
| Ladanyi M, Antonescu CR, Drobnjak M, Baren A, Lui MY, Golde DW, Cordon-Cardo C|
| The American journal of pathology. 2002 ; 160 (4) : 1215-1221.|
| 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.|
| Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Cin PD, Bridge J|
| Oncogene. 2001 ; 20 (1) : 48-57.|
| Cytogenetic analysis of rare orbital tumors: further evidence for diagnostic implication.|
| Lasudry J, Heimann P|
| Orbit (Amsterdam, Netherlands). 2000 ; 19 (2) : 87-95.|
| Alveolar soft-part sarcoma. A clinico-pathologic study of half a century.|
| Lieberman PH, Brennan MF, Kimmel M, Erlandson RA, Garin-Chesa P, Flehinger BY|
| Cancer. 1989 ; 63 (1) : 1-13.|
| Alveolar soft part sarcoma: a review and update.|
| Ordéñez NG|
| Advances in anatomic pathology. 1999 ; 6 (3) : 125-139.|
| Alveolar soft-part sarcoma: a review of the pathology and histogenesis.|
| Ordóñez NG, Mackay B|
| Ultrastructural pathology. 1998 ; 22 (4) : 275-292.|
| Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution.|
| Portera CA Jr, Ho V, Patel SR, Hunt KK, Feig BW, Respondek PM, Yasko AW, Benjamin RS, Pollock RE, Pisters PW|
| Cancer. 2001 ; 91 (3) : 585-591.|
| Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: alveolar soft part sarcoma.|
| Sandberg A, Bridge J|
| Cancer genetics and cytogenetics. 2002 ; 136 (1) : 1-9.|
| Solution structure and backbone dynamics of an N-terminal ubiquitin-like domain in the GLUT4-regulating protein, TUG.|
| Tettamanzi MC, Yu C, Bogan JS, Hodsdon ME|
| Protein science : a publication of the Protein Society. 2006 ; 15 (3) : 498-508.|
| Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature.|
| Uppal S, Aviv H, Patterson F, Cohen S, Benevenia J, Aisner S, Hameed M|
| Acta orthopaedica Belgica. 2003 ; 69 (2) : 182-187.|
| Alveolar soft part sarcoma.|
| Zarrin-Khameh N, Kaye KS|
| Archives of pathology & laboratory medicine. 2007 ; 131 (3) : 488-491.|
| An important role for chromosome 17, band q25, in the histogenesis of alveolar soft part sarcoma.|
| van Echten J, van den Berg E, van Baarlen J, van Noort G, Vermey A, Dam A, Molenaar WM|
| Cancer genetics and cytogenetics. 1995 ; 82 (1) : 57-61.|
| Alveolar soft part sarcoma. a report of 15 cases.|
| van Ruth S, van Coevorden F, Peterse JL, Kroon BB|
| European journal of cancer (Oxford, England : 1990). 2002 ; 38 (10) : 1324-1328.|