Testicular Rosai-Dorfman disease clonally related to CMML – Case report and literature review

Fiegl, August; Dirnhofer, Stefan; Juškevičius, Darius; Zagrapan, Branislav; Dertinger, Susanne; Bösl, Andreas; Milos, Stella; Brünner, J.; Bertolini, Franz; Offner, Felix

doi:10.1016/j.prp.2023.154548

Cited by 2 publications

(2 citation statements)

References 19 publications

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“…Furthermore, other case reports and series have published the association of cutaneous xanthomatous tumors [73] and xanthelasma-like lesions fulfilling clinical, histopathological and molecular criteria for ECD associated with CMML, with a proven clonal relationship between skin lesions and CMML cells based on molecular analyses using NGS techniques [74], testicular Rosai-Dorfman disease associated with CMML sharing a KRAS variant c 0.35 G>A/p.G12D in both [75] and also Langerhans cell histiocytosis (LCH) associated with MDS and other hematological neoplasms [76,77]. There have been some publications which pointed out that the cell of origin of one third of patients with sys-temic histiocytosis resides in a CD34+ hematopoietic progenitor cell prior to committed monocytes/macrophages [78,79].…”

Section: Other Histiocytosismentioning

confidence: 99%

“…The following supporting information can be downloaded at: https: //www.mdpi.com/article/10.3390/cancers15245888/s1, Table S1: MDS/MPN related dermatoses with indolent clinical course with main clinical, epidemiological, immunophenotypic and genetic features; Table S2: Cutaneous processes related to either MDS/MPN and aggressive clinical behavior with main with main clinical, epidemiological, immunophenotypic and genetic features. References [6,7,12,13,15,16,24,25,29,30,35,[37][38][39][45][46][47][51][52][53][56][57][58][64][65][66][67][68][69][70][71][72][73]75,77,79] are cited in the supplementary materials.…”

Section: Supplementary Materialsmentioning

confidence: 99%

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Clinical, Histopathological and Molecular Spectrum of Cutaneous Lesions in Myelodysplastic Syndrome and Myeloproliferative Neoplasms (MDS/MPN): An Integrative Review

Prieto-Torres,

Requena,

Rodríguez-Pinilla

2023

Cancers

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Myeloid neoplasms and acute leukemias include different entities that have been recently re-classified taking into account molecular and clinicopathological features. The myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) category comprises a heterogeneous group of hybrid neoplastic myeloid diseases characterized by the co-occurrence of clinical and pathological features of both myelodysplastic and myeloproliferative neoplasms. The most frequent entity in this category is chronic myelomonocytic leukemia (CMML) which is, after acute myeloid leukemia (AML), the main myeloid disorder prone to develop cutaneous manifestations. Skin lesions associated with myelodysplastic and myeloproliferative neoplasms include a broad clinical, histopathological and molecular spectrum of lesions, poorly understood and without a clear-cut classification in the current medical literature. The aim of this review is to describe and classify the main clinical, histopathological and molecular patterns of cutaneous lesions in the setting of MDS/MPN in order to improve the diagnostic skills of the dermatologists, hematologists and pathologists who deal with these patients.

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Section: Other Histiocytosismentioning

confidence: 99%

Section: Supplementary Materialsmentioning

confidence: 99%

Clinical, Histopathological and Molecular Spectrum of Cutaneous Lesions in Myelodysplastic Syndrome and Myeloproliferative Neoplasms (MDS/MPN): An Integrative Review

Prieto-Torres,

Requena,

Rodríguez-Pinilla

2023

Cancers

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Primary Rosai‐Dorfman disease of the central nervous system: A clinical, histological, and molecular appraisal

Parkhi,

Chatterjee,

Kashyap

et al. 2024

Neuropathology

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Rosai‐Dorfman disease (RDD) is characterized by clonal proliferation of S‐100 positive histiocytes and variable emperipolesis. It commonly affects cervical lymph nodes. Central nervous system (CNS) involvement is extremely rare. We attempted to evaluate the Cyclin D1 expression and frequency of KRAS and BRAF mutations in the RDD involving the CNS. All patients with histopathologically diagnosed RDD involving CNS were recruited from 2011 to 2022. All cases were subjected to immunohistochemistry for CD68, CD163, S100, CD1a, GFAP, CD207, EMA, ALK, BRAFV600E, IgG4, IgG, and CyclinD1. The real‐time polymerase chain reaction (RT‐PCR) for hotspot mutation analysis of KRAS (exons 2, 3, and 4) and BRAF (V600E) was conducted on formalin‐fixed paraffin‐embedded tissue using a commercial kit (EntroGen). A total of seven cases were included. The median age was 31 years, with six men and one woman. It showed spinal cord (n = 4) and intracranial (n = 3) involvement. Histologically, all cases showed histiocyte‐rich inflammation with evidence of emperipolesis. These histiocytes were positive for S100, CD68, CD163, and Cyclin D1, whereas negative for CD1a, CD207, and EMA. BRAF V600E was expressed in a single case. None of the control cases (demyelination and infarction) with histiocytic infiltrate showed Cyclin D1 expression. Four RDD cases showed increased IgG4‐positive plasma cells (>10/HPF) and IgG4/IgG ratio (>40%). BRAF V600E mutation was detected in one case (14.28%), while none showed KRAS mutation. RDD involving CNS is extremely rare and diagnostically challenging. Nuclear Cyclin D1 expression along with S‐100 positivity in the tumor cells is a strong diagnostic clue. BRAF and KRAS mutations are rare in CNS RDD.

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Testicular Rosai-Dorfman disease clonally related to CMML – Case report and literature review

Cited by 2 publications

References 19 publications

Clinical, Histopathological and Molecular Spectrum of Cutaneous Lesions in Myelodysplastic Syndrome and Myeloproliferative Neoplasms (MDS/MPN): An Integrative Review

Clinical, Histopathological and Molecular Spectrum of Cutaneous Lesions in Myelodysplastic Syndrome and Myeloproliferative Neoplasms (MDS/MPN): An Integrative Review

Primary Rosai‐Dorfman disease of the central nervous system: A clinical, histological, and molecular appraisal

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