Rhabdomyosarcoma: Difference between revisions
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{{ Infobox diagnosis | {{ Infobox diagnosis | ||
| Name = {{PAGENAME}} | | Name = {{PAGENAME}} | ||
| Image = Alveolar_rhabdomyosarcoma_-_very_high_mag.jpg | | Image = Alveolar_rhabdomyosarcoma_-_very_high_mag.jpg | ||
| Width = | | Width = | ||
| Caption = Alveolar rhabdomyosarcoma. [[H&E stain]]. | | Caption = Alveolar rhabdomyosarcoma. [[H&E stain]]. | ||
| Line 15: | Line 15: | ||
| Gross = | | Gross = | ||
| Grossing = | | Grossing = | ||
| Site = [[soft tissue]] - skeletal muscle (alveolar RMS), non-muscle site (embryonal RMS) | | Site = [[soft tissue]] - skeletal muscle site (alveolar RMS), non-skeletal muscle site (embryonal RMS) | ||
| Assdx = | | Assdx = | ||
| Syndromes = | | Syndromes = [[DICER1 syndrome]] for ''embryonal rhabdomyosarcoma'' | ||
| Clinicalhx = | | Clinicalhx = alveolar RMS: young adult or adolescent; embryonal RMS: typically <10 years old | ||
| Signs = | | Signs = | ||
| Symptoms = | | Symptoms = | ||
| Prevalence = | | Prevalence = not common | ||
| Bloodwork = | | Bloodwork = | ||
| Rads = | | Rads = | ||
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==Microscopic== | ==Microscopic== | ||
===Alveolar rhabdomyosarcoma=== | ===Alveolar rhabdomyosarcoma=== | ||
Features:<ref name=PST14feb11 | Features:<ref name=PST14feb11/> | ||
*Alveolus-like pattern -- '''key low-power feature'''. | *Alveolus-like pattern -- '''key low-power feature'''. | ||
**Fibrous septae lined by tumour cells. | **Fibrous septae lined by tumour cells. | ||
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===Embryonal rhabdomyosarcoma=== | ===Embryonal rhabdomyosarcoma=== | ||
Features:<ref name=PST14feb11 | Features:<ref name=PST14feb11/> | ||
*Randomly arranged small cells. | *Randomly arranged small cells. | ||
*[[Myxoid]] matrix. | *[[Myxoid]] matrix. | ||
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*Myogenin. | *Myogenin. | ||
For [[head and neck pathology|head and neck]] RMS:<ref name=pmid18487991>{{Cite journal | last1 = Bahrami | first1 = A. | last2 = Gown | first2 = AM. | last3 = Baird | first3 = GS. | last4 = Hicks | first4 = MJ. | last5 = Folpe | first5 = AL. | title = Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall. | journal = Mod Pathol | volume = 21 | issue = 7 | pages = 795-806 | month = Jul | year = 2008 | doi = 10.1038/modpathol.2008.86 | PMID = 18487991 }}</ref> | |||
*CD56 +ve. | *CD56 +ve. | ||
*Synaptophysin -ve/+ve (seen in 12 of 37 cases<ref name=pmid18487991/>). | *Synaptophysin -ve/+ve (seen in 12 of 37 cases<ref name=pmid18487991/>). | ||
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*Wide-spectrum cytokeratin -ve/+ve. | *Wide-spectrum cytokeratin -ve/+ve. | ||
*CAM5.2 -ve/+ve. | *CAM5.2 -ve/+ve. | ||
For [[urinary bladder]] RMS in adults: | |||
*Myogenin +ve. | |||
*Desmin +ve. | |||
*Keratins -ve.<ref name=pmid21762516>{{Cite journal | last1 = Bing | first1 = Z. | last2 = Zhang | first2 = PJ. | title = Adult urinary bladder tumors with rhabdomyosarcomatous differentiation: clinical, pathological and immunohistochemical studies. | journal = Diagn Pathol | volume = 6 | issue = | pages = 66 | month = | year = 2011 | doi = 10.1186/1746-1596-6-66 | PMID = 21762516 }}</ref> | |||
**Keratin positive tumours are considered ''rhabdomyosarcomatous sarcomatoid carcinoma'' or ''sarcomatoid carcinoma with rhabdomyosarcomatous differentiation''. | |||
===Subtyping via IHC=== | ===Subtyping via IHC=== | ||
PST proposes<ref name=PST14feb11 | PST proposes<ref name=PST14feb11/> the following (presumably based on Makawitz et al.<ref name=pmid18788888>{{cite journal |author=Makawita S, Ho M, Durbin AD, Thorner PS, Malkin D, Somers GR |title=Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors |journal=Pediatr. Dev. Pathol. |volume=12 |issue=2 |pages=127–35 |year=2009 |pmid=18788888 |doi=10.2350/08-05-0477.1 |url=}}</ref>): | ||
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto" | {| class="wikitable sortable" style="margin-left:auto;margin-right:auto" | ||
| '''IHC''' | | '''IHC''' | ||
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*t(1,13) vs. t(2,13) -- t(1,13) usually: younger age, extremity lesion, localized disease, better survival. | *t(1,13) vs. t(2,13) -- t(1,13) usually: younger age, extremity lesion, localized disease, better survival. | ||
*Several uncommon [[translocations]] exist. | *Several uncommon [[translocations]] exist. | ||
*'''Important''' for [[urinary bladder]] lesions in adults: the presence of a translocation is more-or-less required for the diagnosis of RMS.<ref name=pmid21762516>{{Cite journal | last1 = Bing | first1 = Z. | last2 = Zhang | first2 = PJ. | title = Adult urinary bladder tumors with rhabdomyosarcomatous differentiation: clinical, pathological and immunohistochemical studies. | journal = Diagn Pathol | volume = 6 | issue = | pages = 66 | month = | year = 2011 | doi = 10.1186/1746-1596-6-66 | PMID = 21762516 }}</ref> | |||
**It is suggested that keratin negative tumours without molecular testing to corroborate the impression of RMS be referred to as ''rhabdomyomatous tumours''.<ref name=pmid21762516/> | |||
===Embryonal rhabdomyosarcoma=== | ===Embryonal rhabdomyosarcoma=== | ||