Difference between revisions of "Rhabdomyosarcoma"
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==General== | ==General== | ||
*Most common paediatric sarcoma. | *Most common paediatric sarcoma. | ||
**Classically in the head and neck region.<ref name=pmid10465231>{{Cite journal | last1 = Rosenthal | first1 = TC. | last2 = Kraybill | first2 = W. | title = Soft tissue sarcomas: integrating primary care recognition with tertiary care center treatment. | journal = Am Fam Physician | volume = 60 | issue = 2 | pages = 567-72 | month = Aug | year = 1999 | doi = | PMID = 10465231 | URL = http://www.aafp.org/afp/1999/0801/p567.html }}</ref> | |||
*Most common sarcoma in [[Li-Fraumeni syndrome]].<ref name=PST14feb11>PST. 14 February 2011.</ref> | *Most common sarcoma in [[Li-Fraumeni syndrome]].<ref name=PST14feb11>PST. 14 February 2011.</ref> | ||
*~6% of all childhood cancer. | *~6% of all childhood cancer. | ||
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*Several classification of RMS exist - see: [http://www.nature.com/modpathol/journal/v14/n5/fig_tab/3880339t1.html#figure-title Classifications of Rhabdomyosarcoma].<ref name=pmid11353062>{{Cite journal | last1 = Parham | first1 = DM. | title = Pathologic classification of rhabdomyosarcomas and correlations with molecular studies. | journal = Mod Pathol | volume = 14 | issue = 5 | pages = 506-14 | month = May | year = 2001 | doi = 10.1038/modpathol.3880339 | PMID = 11353062 }} | *Several classification of RMS exist - see: [http://www.nature.com/modpathol/journal/v14/n5/fig_tab/3880339t1.html#figure-title Classifications of Rhabdomyosarcoma].<ref name=pmid11353062>{{Cite journal | last1 = Parham | first1 = DM. | title = Pathologic classification of rhabdomyosarcomas and correlations with molecular studies. | journal = Mod Pathol | volume = 14 | issue = 5 | pages = 506-14 | month = May | year = 2001 | doi = 10.1038/modpathol.3880339 | PMID = 11353062 }} | ||
</ref> | </ref> | ||
==Gross== | |||
Sarcoma botryoides (embryonal RMS) - distinctive appearance: | |||
*Grapes on the vine-like clusters. | |||
Image: | |||
*[http://www.flickr.com/photos/35441329@N05/4985992462/in/photostream/ Sarcoma Boytriodes (flickr.com)]. | |||
==Microscopic== | ==Microscopic== | ||
Revision as of 02:27, 13 April 2012
Rhabdomyosarcoma, often abbreviated RMS, is a malignant tumour of skeletal muscle.
General
- Most common paediatric sarcoma.
- Classically in the head and neck region.[1]
- Most common sarcoma in Li-Fraumeni syndrome.[2]
- ~6% of all childhood cancer.
Classification
Histologic
- Alveolar rhabdomyosarcoma.
- Usually young adults/adolescents.
- Early mets common.
- Usu. arises in regions with skeletal muscle.
- Embryonal rhabdomyosarcoma.
- Usual <10 years old.
- Typically locally invasive.
- Usu. arises in regions without skeletal muscle.
Less common types:[3]
- Undifferentiated rhabdomyosarcoma.
- Botryoid - may be considered a subtype of embryonal RMS.
- Spindle cell - may be considered a subtype of embryonal RMS.
- Anaplastic.
Molecular and histologic
- Translocation-positive alveolar RMS.
- Translocation-negative alveolar RMS.
- Embryonal RMS.
Notes:
- Translocation-negative alveolar RMS shares gene expression prolifing characteristics with embryonal RMS -- suggesting these can be grouped together.
- Several classification of RMS exist - see: Classifications of Rhabdomyosarcoma.[4]
Gross
Sarcoma botryoides (embryonal RMS) - distinctive appearance:
- Grapes on the vine-like clusters.
Image:
Microscopic
Alveolar rhabdomyosarcoma
Features:[2]
- Alveolus-like pattern -- key low-power feature.
- Fibrous septae lined by tumour cells.
- Cells may "fall-off" the septa, i.e. be detached/scattered in the alveolus-like space.
- Space between fibrous sepate may be filled with tumour = solid variant of alveolar rhabdomyosarcoma.
- Fibrous septae lined by tumour cells.
- Rhabdomyoblasts - essentially diagnostic.
- Eccentric nucleus.
- Moderate amount of intensly eosinophilic cytoplasm.
- Striations -- if you're really lucky; these are not common.
Other features:
- Nuclear pleomorphism - common.
- Mitoses - common.
Notes:
- Well-differentiated rhabdomyoblasts are uncommon in alveolar RMS.
DDx:
Images:
- WC:
- www:
Embryonal rhabdomyosarcoma
Features:[2]
- Randomly arranged small cells.
- Myxoid matrix.
- Strap cells:
- Tadpole-like morphology.
- Rhabdomyoblasts - essentially diagnostic.
- Eccentric nucleus.
- Moderate amount of intensly eosinophilic cytoplasm.
- Striations -- if you're really lucky; these are not common.
DDx:
Images:
Subtypes of embryonal RMS
There are two common subtypes of embryonal RMS. Both of them have a better prognosis that embryonal RMS not otherwise specified (NOS).
Common subtypes:
- Botryoid subtype (AKA sarcoma botryoides):
- Gross: Grape-like morphology.
- Microscopic: Non-proliferating layer deep to the surface ("Cambium layer").
- Spindle cell subtype.
- General: may mimic leiomyosarcoma (complete with vesicular pattern) -- which is not common in the pediatric population.
- Microscopic: vesicular growth pattern, spindle cells.
Notes:
- Cambium layer = cellular region deep to epithelial component.[6]
Anaplasia
Criteria:
- Hyperchromatic nuclei with size variation greater or equal to 3x.
- Multipolar (atypical) mitotic figures.
Subclassification:
- Focal - a few cells.
- Diffuse - cluster or sheets of anaplasia.
Notes:
- Not subtle - can identify at low power.
- Seen in 10-15% of RMS.
- More common in older individuals.
- Poorer prognosis in embryonal RMS.
- No change in prognosis in alveolar RMS.
IHC
Panel of muscle markers -- DAM:
- Desmin (best marker).
- Actin.
- Myogenin.
Subtyping via IHC
PST proposes[2] the following (presumably based on Makawitz et al.[7]):
| IHC | Translocation positive alveolar RMS |
Embryonal RMS | Translocation negative alveolar RMS |
| myogenin | +ve -- diffuse | +ve -- focal | +ve -- diffuse |
| EGFR | -ve | +ve | -ve |
| P-cadherin | +ve | -ve | -ve |
| IGF2 | -ve | +ve | +ve |
A paper by Wachtel at al.[8] proposes the use of:
- AP2beta and P-cadherin +ve in translocation positive alveolar RMS, and
- EGFR and fibrillin-2 +ve in embryonal RMS and translocation negative alveolar RMS.
Electron microscopy
Features:
- Sarcomeric like structures - usu. in "bent" cells; cells that are U-shaped.
Molecular diagnostics
Alveolar rhabdomyosarcoma
Common translocations (~85% of cases):
- t(1,13).
- PAX7/FKHR fusion gene.
- Seen in approx. 15% of cases.
- t(2,13).[9]
- PAX3/FKHR fusion gene.
- Seen in approx. 70% of cases.
Notes:
- t(1,13) vs. t(2,13) -- t(1,13) usually: younger age, extremity lesion, localized disease, better survival.
- Several uncommon translocations exist.
See also
References
- ↑ Rosenthal, TC.; Kraybill, W. (Aug 1999). "Soft tissue sarcomas: integrating primary care recognition with tertiary care center treatment.". Am Fam Physician 60 (2): 567-72. PMID 10465231.
- ↑ 2.0 2.1 2.2 2.3 PST. 14 February 2011.
- ↑ Hicks, J.; Flaitz, C. (Jul 2002). "Rhabdomyosarcoma of the head and neck in children.". Oral Oncol 38 (5): 450-9. PMID 12110339.
- ↑ Parham, DM. (May 2001). "Pathologic classification of rhabdomyosarcomas and correlations with molecular studies.". Mod Pathol 14 (5): 506-14. doi:10.1038/modpathol.3880339. PMID 11353062.
- ↑ Chen, S.; Wang, S.; Gao, J.; Zhang, S. (May 2010). "[Pleuropulmonary blastoma: a clinicopathological analysis].". Zhongguo Fei Ai Za Zhi 13 (5): 550-3. doi:10.3779/j.issn.1009-3419.2010.05.31. PMID 20677658.
- ↑ URL: http://www.medilexicon.com/medicaldictionary.php?t=48297. Accessed on: 9 August 2011.
- ↑ Makawita S, Ho M, Durbin AD, Thorner PS, Malkin D, Somers GR (2009). "Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors". Pediatr. Dev. Pathol. 12 (2): 127–35. doi:10.2350/08-05-0477.1. PMID 18788888.
- ↑ Wachtel M, Runge T, Leuschner I, et al. (February 2006). "Subtype and prognostic classification of rhabdomyosarcoma by immunohistochemistry". J. Clin. Oncol. 24 (5): 816–22. doi:10.1200/JCO.2005.03.4934. PMID 16391296.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/606597. Accessed on: 18 August 2010.