Difference between pages "Li-Fraumeni syndrome" and "Rosai-Dorfman disease"

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'''Li-Fraumeni syndrome''', also known as '''SBLA syndrome''', is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{OMIM|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division.  It is implicated in a very large number of sporadic cancer.
{{ Infobox diagnosis
| Name = {{PAGENAME}}
| Image = Emperipolesis_-_very_high_mag.jpg
| Width =
| Caption = Rosai-Dorfman disease. H&E stain.
| Micro = sinus histiocytosis with histiocytes have a singular large round nucleus (~2x the size of a lymphocyte) with a prominent nucleolus (visible with 10x objective); emperipolesis
| Subtypes =
| LMDDx = other specific [[histiocytoses]] ([[Langerhans cell histiocytosis]], [[Erdheim-Chester disease]]), specific infections ([[rhinoscleroma]], [[xanthogranulomatous pyelonephritis]]), [[sinus histiocytosis]]
| Stains =
| IHC = CD68 -ve, S-100 +ve, CD1a -ve
| EM =
| Molecular =
| IF =
| Gross = nodules (skin)
| Grossing =
| Site = [[skin]], [[lymph node]]s - see ''[[lymph node pathology]]''
| Assdx =
| Syndromes =
| Clinicalhx =
| Signs = fever, lymphadenopathy
| Symptoms =
| Prevalence = rare
| Bloodwork = leukocytosis with neurophilia
| Rads =
| Endoscopy =
| Prognosis = usually self-limited, benign
| Other =
| ClinDDx = lymphoma, infections with lymphadenopathy }}
'''Rosai-Dorfman disease''', abbreviated '''RDD''', is a rare [[lymph node pathology]].


Individuals with Li-Fraumeni syndrome are predisposed to cancer.  TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.
It is also known as '''sinus histiocytosis with massive lymphadenopathy''',<ref name=pmid17183839>{{cite journal |author=Agarwal A, Pathak S, Gujral S |title=Sinus histiocytosis with massive lymphadenopathy--a review of seven cases |journal=Indian J Pathol Microbiol |volume=49 |issue=4 |pages=509–15 |year=2006 |month=October |pmid=17183839 |doi= |url=}}</ref> abbreviated '''SHML'''.


==Associated cancers==
==General==
This is not an exhaustive list:
*Super rare.
*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8|1157}}</ref>
*Prognosis - good, usually self-limited.<ref name=pmid23739703/>
*[[Breast cancer]].<ref name=emed987356ov>URL: [http://emedicine.medscape.com/article/987356-overview http://emedicine.medscape.com/article/987356-overview]. Accessed on: 19 March 2011.</ref>
*[[Osteosarcoma]].<ref name=emed987356ov/>
*[[Chondrosarcoma]].<ref name=emed987356ov/>
*[[Brain tumours]].<ref name=emed987356ov/>
*Acute [[leukemia]].<ref name=emed987356ov/>
*[[Soft tissue lesions|Soft tissue sarcomas]].<ref name=emed987356ov/>  


The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM|151623}}</ref>
Clinical findings:<ref name=pmid19668942>{{Cite journal  | last1 = Landim | first1 = FM. | last2 = Rios | first2 = Hde O. | last3 = Costa | first3 = CO. | last4 = Feitosa | first4 = RG. | last5 = Rocha Filho | first5 = FD. | last6 = Costa | first6 = AA. | title = Cutaneous Rosai-Dorfman disease. | journal = An Bras Dermatol | volume = 84 | issue = 3 | pages = 275-8 | month = Jul | year = 2009 | doi =  | PMID = 19668942 }}</ref><ref name=pmid23739703>{{Cite journal  | last1 = Leal | first1 = PA. | last2 = Adriano | first2 = AL. | last3 = Breckenfeld | first3 = MP. | last4 = Costa | first4 = IS. | last5 = de Sousa | first5 = AR. | last6 = Gonçalves | first6 = Hde S. | title = Rosai-Dorfman disease presenting with extensive cutaneous manifestation - case report. | journal = An Bras Dermatol | volume = 88 | issue = 2 | pages = 256-9 | month =  | year =  | doi = 10.1590/S0365-05962013000200014 | PMID = 23739703 }}</ref>
*[[Sarcoma|'''S'''arcomas]].
*Fever.
*[[Invasive breast cancer|'''B'''reast cancer]].
*Leukocytosis with neutrophilia.
*[[brain tumours|'''B'''rain tumours]].
*Polyclonal gammaglobulinemia.
*[[leukemia|'''L'''eukemia]].
*'''L'''aryngeal carcinoma.
*[[Lung cancer|'''L'''ung cancer]].
*[[Adrenal cortical carcinoma|'''A'''drenal cortical carcinoma]].


==Li-Fraumeni variant==
==Gross==
A germline mutation in CHEK2<ref name=omim604373>{{OMIM|604373}}</ref> is considered to be a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.
*Skin: nodules.<ref name=pmid23739703/>


CHEK2 mutations are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as ''hereditary breast & colorectal cancer'' (HBCC).<ref name=omim604373/>  In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.<ref name=Ref_PCPBoD8_545>{{Ref PCPBoD8|545}}</ref>
Note:
*Reported at many sites.


''CHEK2'' associated cancers in a list:
==Microscopic==
*Breast.
Features:
*Colon.  
*Sinus histiocytosis:
*Thyroid.
**Histiocytes - abundant.
*Kidney.
***Singular large round nuclei<ref>Bailey, D. 24 August 2010.</ref> ~2x the size of resting lymphocyte.
*Prostate.
****Prominent nucleolus - visible with 10x objective.
***Abundant cytoplasm.
*[[Emperipolesis]] (from ''Greek'': ''em'' = inside, ''peri'' = around, ''polemai'' = wander about<ref>Stedman's Medical Dictionary. 27th Ed.</ref>):
**Histiocytes contain other whole cells: neutrophils, lymphocytes, plasma cells.
***The "eaten" cell is within a vacuole;<ref>{{cite journal |author=Viswanathan P, Raghunathan K, Majhi U, Pandit RV, Shanthi R, Rajkumar T|title=Emperipolesis : an electron microscopic characteristic in RDD (Rosai-Dorfaman disease) : a case report |volume= |issue=1|pages=14-6 |year=1997 |month= |pmid= |doi= |url=http://www.ijmpo.org/article.asp?issn=0971-5851;year=1997;volume=18;issue=1;spage=14;epage=16;aulast=Viswanathan;type=0}}</ref> thus, it should have a clear halo around it.
***Thought to be related to ''peripolesis''; the attachment of a cell to another.<ref name=pmid1577151>{{cite journal |author=Lyons DJ, Gautam A, Clark J, ''et al.'' |title=Lymphocyte macrophage interactions: peripolesis of human alveolar macrophages |journal=Eur. Respir. J. |volume=5 |issue=1 |pages=59–66 |year=1992 |month=January |pmid=1577151 |doi= |url=}}</ref>
 
DDx:
*Other specific [[histiocytoses]]:
**[[Langerhans cell histiocytosis]].
**[[Erdheim-Chester disease]].
*Infection, e.g. [[rhinoscleroma]] (nasopharynx), [[xanthogranulomatous pyelonephritis]].
*[[Sinus histiocytosis]].
*Xanthomatous change.
 
===Images===
====Case 1====
<gallery>
Image:Emperipolesis_-_very_high_mag.jpg | Emperipolesis in SHML (WC)
Image:Rosai-Dorfman_disease_-_very_high_mag.jpg | Rosai-Dorfman disease (WC)
</gallery>
====Case 2====
<gallery>
Image: Rosai-Dorfman disease of parotid gland -- low mag.jpg | RDD - low mag.
Image: Rosai-Dorfman disease of parotid gland -- intermed mag.jpg | RDD - intermed. mag.
Image: Rosai-Dorfman disease of parotid gland -- high mag.jpg | RDD - high mag.
Image: Rosai-Dorfman disease of parotid gland - alt -- high mag.jpg | RDD - high mag.
Image: Rosai-Dorfman disease of parotid gland -- very high mag.jpg | RDD - very high mag.
</gallery>
====www====
*[http://path.upmc.edu/cases/case318.html RDD - case 1 - several images (upmc.edu)].
*[http://path.upmc.edu/cases/case338.html RDD - case 2 - several images of breast (upmc.edu)].
*[http://path.upmc.edu/cases/case351/micro.html RDD - case 3 - several images (upmc.edu)].
*[http://path.upmc.edu/cases/case546.html RDD - case 4 - several images (upmc.edu)].
 
==IHC==
Features:<ref name=pmid18504582>{{Cite journal  | last1 = Hartmann | first1 = S. | last2 = Kriener | first2 = S. | last3 = Hansmann | first3 = ML. | title = [Diagnostic spectrum of reactive lymph node changes]. | journal = Pathologe | volume = 29 | issue = 4 | pages = 253-63 | month = Jul | year = 2008 | doi = 10.1007/s00292-008-1003-5 | PMID = 18504582 }}</ref>
*CD68 +ve.
*S-100 +ve.
**Useful for seeing emperipolesis.
*CD1a -ve.
**CD1a +ve in [[Langerhans cell histiocytosis]].
 
===Images===
<gallery>
Image:Rosai-dorfman.jpg | Rosai-Dorfman disease - S-100 showing emperipolesis (WC/AFIP)
</gallery>


==See also==
==See also==
*[[Basics]].
*[[Lymph node pathology]].
*[[Immunohistochemistry]].
*[[Sinus histiocytosis]].
*[[p53]].
*[[Dermatopathic lymphadenopathy]].
*[[Histiocytoses]].


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}


[[Category:Syndromes]]
[[Category:Lymph node pathology]]
[[Category:Diagnosis]]
[[Category:Diagnosis]]

Revision as of 15:26, 25 May 2020

Rosai-Dorfman disease
Diagnosis in short

Rosai-Dorfman disease. H&E stain.

LM sinus histiocytosis with histiocytes have a singular large round nucleus (~2x the size of a lymphocyte) with a prominent nucleolus (visible with 10x objective); emperipolesis
LM DDx other specific histiocytoses (Langerhans cell histiocytosis, Erdheim-Chester disease), specific infections (rhinoscleroma, xanthogranulomatous pyelonephritis), sinus histiocytosis
IHC CD68 -ve, S-100 +ve, CD1a -ve
Gross nodules (skin)
Site skin, lymph nodes - see lymph node pathology

Signs fever, lymphadenopathy
Prevalence rare
Blood work leukocytosis with neurophilia
Prognosis usually self-limited, benign
Clin. DDx lymphoma, infections with lymphadenopathy

Rosai-Dorfman disease, abbreviated RDD, is a rare lymph node pathology.

It is also known as sinus histiocytosis with massive lymphadenopathy,[1] abbreviated SHML.

General

  • Super rare.
  • Prognosis - good, usually self-limited.[2]

Clinical findings:[3][2]

  • Fever.
  • Leukocytosis with neutrophilia.
  • Polyclonal gammaglobulinemia.

Gross

  • Skin: nodules.[2]

Note:

  • Reported at many sites.

Microscopic

Features:

  • Sinus histiocytosis:
    • Histiocytes - abundant.
      • Singular large round nuclei[4] ~2x the size of resting lymphocyte.
        • Prominent nucleolus - visible with 10x objective.
      • Abundant cytoplasm.
  • Emperipolesis (from Greek: em = inside, peri = around, polemai = wander about[5]):
    • Histiocytes contain other whole cells: neutrophils, lymphocytes, plasma cells.
      • The "eaten" cell is within a vacuole;[6] thus, it should have a clear halo around it.
      • Thought to be related to peripolesis; the attachment of a cell to another.[7]

DDx:

Images

Case 1

Case 2

www

IHC

Features:[8]

Images

See also

References

  1. Agarwal A, Pathak S, Gujral S (October 2006). "Sinus histiocytosis with massive lymphadenopathy--a review of seven cases". Indian J Pathol Microbiol 49 (4): 509–15. PMID 17183839.
  2. 2.0 2.1 2.2 Leal, PA.; Adriano, AL.; Breckenfeld, MP.; Costa, IS.; de Sousa, AR.; Gonçalves, Hde S.. "Rosai-Dorfman disease presenting with extensive cutaneous manifestation - case report.". An Bras Dermatol 88 (2): 256-9. doi:10.1590/S0365-05962013000200014. PMID 23739703.
  3. Landim, FM.; Rios, Hde O.; Costa, CO.; Feitosa, RG.; Rocha Filho, FD.; Costa, AA. (Jul 2009). "Cutaneous Rosai-Dorfman disease.". An Bras Dermatol 84 (3): 275-8. PMID 19668942.
  4. Bailey, D. 24 August 2010.
  5. Stedman's Medical Dictionary. 27th Ed.
  6. Viswanathan P, Raghunathan K, Majhi U, Pandit RV, Shanthi R, Rajkumar T (1997). Emperipolesis : an electron microscopic characteristic in RDD (Rosai-Dorfaman disease) : a case report. pp. 14-6. http://www.ijmpo.org/article.asp?issn=0971-5851;year=1997;volume=18;issue=1;spage=14;epage=16;aulast=Viswanathan;type=0.
  7. Lyons DJ, Gautam A, Clark J, et al. (January 1992). "Lymphocyte macrophage interactions: peripolesis of human alveolar macrophages". Eur. Respir. J. 5 (1): 59–66. PMID 1577151.
  8. Hartmann, S.; Kriener, S.; Hansmann, ML. (Jul 2008). "[Diagnostic spectrum of reactive lymph node changes].". Pathologe 29 (4): 253-63. doi:10.1007/s00292-008-1003-5. PMID 18504582.