MAP2K1-driven mixed Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease and Erdheim-Chester disease, clonally related to acute myeloid leukemia

被引：5

作者：

Bonometti, Arturo ^{[1
]}

Ferrario, Giuseppina ^{[2
]}

Parafioriti, Antonina ^{[3
]}

Giardino, Demostene ^{[4
]}

Simonetti, Federico ^{[5
]}

Ginori, Alessandro ^{[6
]}

Passoni, Emanuela ^{[7
]}

Berti, Emilio ^{[7
,8
]}

机构：

[1] Univ Pavia, Dept Mol Med, IRCCS San Matteo Fdn, Unit Anat Pathol, Pavia, Italy

[2] Univ Pavia, Dept Mol Med, IRCCS San Matteo Fdn, Pavia, Italy

[3] ASST PINI CTO Ctr Specialist Ortoped Traumatol Ga, Dept Pathol, Milan, Italy

[4] Casa Cura San Camillo, Surg Pathol Unit, Forte Dei Marmi, Italy

[5] Unico Versilia Hosp, Dept Hematol, Camaiore, Italy

[6] Azienda USL Toscana Nord Ovest, Pathol Unit, Polyspecialist Ctr Monterosso, Carrara, Italy

[7] Osped Maggiore Policlin, Dept Dermatol, Fdn IRCCS Ca Granda, Milan, Italy

[8] Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn, Ca Granda Osped Maggiore Policlin, Milan, Italy

来源：

JOURNAL OF CUTANEOUS PATHOLOGY | 2021年 / 48卷 / 05期

关键词：

Langerhans cell histiocytosis; Rosai‐ Dorfman‐ Destombes disease; Erdheim‐ Chester disease; clonal relation; acute myeloid leukemia; MUTATIONS; LYMPHOMA;

D O I：

10.1111/cup.13918

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Mixed histiocytoses are a rare and recently recognized subset of histiocytic disorders that may involve the skin, characterized by the synchronous or metachronous development of lesions with Langerhans and/or non-Langerhans cell histiocytosis histopathological features. Around 10% of patients diagnosed with histiocytosis may develop a hematological malignancy, often with dramatic prognostic consequences. We hereby describe the exceptional case of a patient developing a MAP2K1-driven mixed histiocytosis with Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease, and Erdheim-Chester disease features and cutaneous involvement, progressing to a fatal and clonally-related acute myeloid leukemia. We reviewed the literature on similar cases and discussed the histopathological difficulties in their diagnosis and their clinical-pathological features.

引用

页码：637 / 643

页数：7

共 31 条

[31] Erdheim-Chester Disease: A Case Report of BRAF V600E-Negative, MAP2K1-Positive ECD Diagnosed by Blood Next-Generation Sequencing Assay and a Brief Literature Review
Aggarwal, Ankita
Taychert, Mackenzie
Hasanin, M. H. D. Louay
Doll, Donald
Basuino, Mira Gabrielle
Hasanein, Hassan
ONCOLOGY-NEW YORK, 2023, 37 (07): : 298 - 302

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