SH/EAHP Workshop 2011 Los Angeles, California, USA. October 27-29, Session 5. Other Lymphohistiocytic Malignancies of the Skin

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1 SH/EAHP Workshop 2011 Los Angeles, California, USA October 27-29, 2011 Session 5 Other Lymphohistiocytic Malignancies of the Skin Dr. Patty Jansen Dr. Leticia Quintanilla-Fend

4 Submitted cases session 5 1. Blastic Plasmacytoid Dendritic Cell Neoplasm Langerhans cell histiocytosis/sarcoma 4 3. Rosai-Dorfman Disease 4 4. Myeloid Sarcoma 3 5. Other 3

5 Blastic Plasmacytoid Dendritic Cell Neoplasm - CD4+CD56+ hematodermic neoplasm (WHO-EORTC 2005) - Rare neoplasm derived from precursors of plasmacytoid dendritic cells, also known as professional type-1 interferon producing cells - Often present with solitary or multiple skin plaques and tumors - Common leukemic dissemination and agressive course in adults, more favorable in children (Jegalian et al., haematologica 2010; 95(11) )

Cota, Carlo; Vale, Esmeralda; Viana, Isabel; Requena, Luis; Ferrara, Gerardo; Anemona, Lucia; Metze,

6 Cutaneous Manifestations of Blastic Plasmacytoid Dendritic Cell Neoplasm Morphologic and Phenotypic Variability in a Series of 33 Patients. Cota, Carlo; Vale, Esmeralda; Viana, Isabel; Requena, Luis; Ferrara, Gerardo; Anemona, Lucia; Metze, Dieter; Fink Puches, Regina; Wiesner, Thomas; Cerroni, Lorenzo American Journal of Surgical Pathology. 34(1):75 87, January DOI: /PAS.0b013e3181c5e26b

7 - Typically positive for: CD4, CD56, CD123 - Commonly positive for: CD68, TdT - Sometimes coexpression of: CD7, CD33, CD2 - Rarely: S-100, CD10, CD117 - Consistenty negative: CD34, CD8, MPO, lysozyme, PAX5, CD20, CD79a, EBV, TCR proteins

8 New Markers for BPDCN: TCL1 CD2AP CD303/BDCA-2 SP1-B BCL11A ICSBP/IRF8 FOX-P1 Literature: Marafioti et al. Blood 2008;111: Jegalian et al. Adv Anat Pathol 2009;16: Cota et al. Am J Surg Pathol 2010;34(1):75-87

nr CD4 CD56 TdT CD123 CD303 TCL-1 CD2AP SP1-B 7 + + + + NA NA NA NA 8 + + + + + + + + 49 + + + + NA + NA + 50 +/- + +/- + + + + + 51 + + + + + + + + 68 + + - + + + + +/- (bm) 79 +

9 nr CD4 CD56 TdT CD123 CD303 TCL-1 CD2AP SP1-B NA NA NA NA NA + NA /- + +/ /- (bm) NA NA NA NA NA /-

10 Case # 8 SP1-B CD2AP CD303 CD123

11 Langerhans cell tumor/sarcoma - Two morphological variants typical cytology (LCH) atypical cytology (LCS) - Variable clinical manifestation Localized, disseminated Congenital, self-healing Fatal in 20% of disseminated cases Bone, lung, skin, lymphnode

12 Blood 2010; 116(11):

13 Nichols K E, Arceci R J Blood 2010;116:

14 - 35/61 (57%) LCH showed BRAF V600E mutation - Mutation more frequent in younger patients - No association with disease site or stage - Staining for phospho-mek and phospho-erk regardless of mutation status pathway activation is general feature in LCH - Therapeutic possibilities BRAF inhibitors

15 Case #46 Vulvar Langerhans Cell Sarcoma LUIGI MARIA LAROCCA ISTITUTO DI ANATOMIA PATOLOGICA UNIVERSITA CATTOLICA DEL SACRO CUORE ROMA

16 Case #46-65-year old female - 3-month-history of pruritic and ulcerated lesion on her vulva and perineum. - no other cutaneous lesions - regional lymph nodes were not affected.

17 Case #46

18 Case #46

19 Case #46

20 Case #46 S100 CD1a

21 Case #46 V600E BRAF MUTATION

22 Case #201 Congenital Langerhans Cell Histiocytosis VIVEKANANDA DATTA CEDARS-SINAI MEDICAL CENTER DEPARTMENT OF PATHOLOGY, LOS ANGELES

23 Case #201 - Neonate male was born with a 0.6 x 0.7 cm pink blister on the prepuce of the penis - Two additional, similar lesions of smaller size (0.3 x0.2 cm) on the right toe and mid back. - No family history of skin lesion or Langerhans cell histiocytosis in this patient. - Clinical follow-up 8 years later: no evidence of past or present skin lesion/disease.

24 Case #201

25 Case #201 S100 CD1a

26 Case 201: BRAF sequence analysis Forward: Codon 600 c T>A c G>T p. V600D Reverse:

27 BRAF Submitter Panel Dx V600 #46 [Larocca] Langerhans Cell Sarcoma + #201 [Datta] Congenital LCH + #145 [Aguilera] Langerhans Cell Sarcoma - #317 [Hummel] Langerhans Cell Sarcoma ND

28 Submitter Panel Dx #44 [Block] Cutaneous Rosai-Dorfman Disease #76 [Roth] Cutaneous Rosai-Dorfman Disease #84 [Tu] Subcutaneous Rosai-Dorfman Disease #202 [Alsabeh] Cutaneous Rosai-Dorfman Disease

29 British Journal of Dermatology Volume 154, Issue 2, pages , 11 SEP 2005

30 Cutaneous Rosai-Dorfman Disease vs. Sinus Histiocytosis with Massive Lymphadenopathy/RDD workshop cases - older age of onset 43.5 vs yrs 51.8 yrs (35-68) - male:female 1:2 vs. 1,4:1 1:1 - ethnic preference Asian vs. 2 Afr.-Am. (!) African-American Brenn et al. Am J Dermatopathol 2002; 24(5): Foucar, Rosai, Dorfman 1990 Semin Diagn Pathol 1990; 7:19-73

31 Submitter Panel Dx #23 [O Malley] MDS with probable myeloid sarcoma in the skin #215 [Deeb] (aleukemic) myeloid sarcoma #315 [Jones] myeloid sarcoma

32 Submitter Panel Dx #2 [King] Acute leukemia of ambiguous lineage with features of BPDCN and B-ALL #28 [O Malley] Amyloid deposition #235 [Merzianu] Dendritic cell neoplasm, unclassifiable

33 CASE #2 SP1-B

Neoplasias)de)células)dendrí1cas)plasmocitoides)blás1cas.) Dr#San'ago#Montes#Moreno## Servicio#de#Anatomía#Patológica#HUMV.#

Neoplasias)de)células)dendrí1cas)plasmocitoides)blás1cas.) Dr#San'ago#Montes#Moreno## Servicio#de#Anatomía#Patológica#HUMV.# smontes@humv.es# )Clinical)features:)) ) 61#year#old#male#with#mul'ple#cutaneous#