Indeterminate cell histiocytosis in a Chinese patient with progressive and extensive nodular lesions and mixed indeterminate cell and macrophage‐monocyte lineage

Chen, Qiping; Lee, Joyce S. S.; Liang, Mei; Chan, Michelle Mei Fung; Requena, Luis; Tan, Suat Hoon

doi:10.1111/cup.13132

Cited by 3 publications

(5 citation statements)

References 38 publications

(46 reference statements)

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“…Chemotherapy must be used for aggressive cutaneous ICH, which involves over 50% of the body surface area and lasts for at least 6 months with no spontaneous resolution and new appearing lesions. There are four reports of ICH association with malignancies: one case of mast cell leukemia, another patient with myelomonocytic leukemia, and two cases with low grade B-cell lymphomas (8,14,18). Our case was not associated with hematologic malignancy, which was ruled out.…”

Section: Discussionmentioning

confidence: 56%

“…Birbeck granules that characterize Langerhans cells cannot be detected by electron microscopy in ICH histiocytes. Nowadays, it is proposed that ICH could be a non-Langerhans' cell histiocytosis variant, but its pathogenesis has remained unknown (5)(6)(7)(8).…”

Section: Discussionmentioning

confidence: 99%

“…The second theory relates to those cases evolving from a preexisting B cell lymphoma. Although the cell of origin in ICH is from the common myeloid progenitor lineage, some cases of ICH have arisen in association with low grade Bcell lymphoma, leading some authors to speculate that ICH may be the result of B-cell dedifferentiation, caused by a so far unknown mechanism (8,9).…”

Section: Discussionmentioning

confidence: 99%

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Indeterminate Cell Histiocytosis – Case Report and Review of Literature

Vojvodić

Mijušković

Sekulović

2018

Serbian Journal of Dermatology and Venereology

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Introduction. Indeterminate cell histiocytosis is a rare proliferative disorder of indeterminate dendritic cells, reported in only 50 case reports so far. It is clinically presented as yellow, red or brown papules and nodules that appear in otherwise healthy adult individuals. Indeterminate cells are distinct dendritic cells of the skin that have ultrastructural similarities to the epidermal Langerhans cells but do not contain the characteristic Birbeck’s granules and they are also langerin-negative, unlike LCH. Indeterminate cell histiocytosis is an exceptional entity with variable clinical, histopathologic or immunohistochemical findings, sharing morphologic and immunophenotypic features with both Langerhans- and non-Langerhans cell histiocytoses. Case Report. We present a case of indeterminate histiocytosis in a 77-year-old man with 3-year history of asymptomatic, multiple reddish and brown papules and nodules over the entire body, including the oral mucosa. Skin biopsy was done, and histopathological analysis with immunohistochemistry was performed. The positive ICH staining of cells for CD68, CD1a, and S-100 enabled us to diagnose ICH in our patient. Also, BRAF V600E mutation was detected in tumor tissue. The treatment was started with methotrexate that was effective for 6 months, but due to the disease recurrence, further therapy with thalidomide was advised, without effect. Conclusion. Indeterminate histiocytosis is a rare disease, therefore no standardized treatment has been established and the treatment options are limited.

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Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Indeterminate Cell Histiocytosis – Case Report and Review of Literature

Vojvodić

Mijušković

Sekulović

2018

Serbian Journal of Dermatology and Venereology

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“…We then selected and included in the study 78 papers, describing 108 patients (Figure 1). 5,8,9,12,32–106 From two case series, we included only some of the described patients, as indicated in Table 1 12,48 …”

Section: Resultsmentioning

confidence: 99%

Indeterminate cell histiocytosis: A systematic review of the literature with a comprehensive revision of clinical, histopathological, and molecular features

Zanella

Berti

Bonometti

2023

Acad Dermatol Venereol

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Indeterminate cell histiocytosis (ICH) is a very rare histiocytic disorder, primarily involving the skin. It affects more frequently adults, often presenting with a generalized papular eruption, and needs to be differentiated from other neoplastic, paraneoplastic, and infectious diseases through clinical and histological examination. The knowledge on ICH is limited to case reports and small series. Thus, the lack of larger multicentric studies has prevented recognizing and addressing the specific clinical need of the entity. In this systematic review, we comprehensively analysed the medical literature describing histologically‐confirmed cases of ICH and divided the patients into epidemiologically and clinically different groups. We demonstrate that ICH in adulthood is strongly associated with the development of haematological (and especially myeloid) neoplasms. In this subset of patients, we identify blastic morphology of neoplastic cells as a novel independent prognostic factor and an early histopathological predictor of an associated myeloid neoplasm. Moreover, we highlight that even though ICH may also present in childhood, these patients often show indolent behaviour. Genetically, ICH emerges as a heterogeneous condition. While patients with associated myeloid neoplasms are enriched in pERK pathway gene mutations, in others a specific ETV3::NCOA2 rearrangement is described. We finally reviewe the nosology of ICH since its first description, its possible cell of origin, and summarize the therapeutic options reported for each different clinical subgroup. With this work, we hope to foster studies on rare cutaneous histiocytosis and their comprehensive multidisciplinary characterization.

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“…Of those 10 cases, 5 demonstrated ETV3-NCOA2 gene fusion (Table 1). 3–7 Brown et al 3 (2015) also demonstrated that FISH for ETV3-NCOA2 translocation was negative in a group of patients without ICH, which included patients with Langerhans cell histiocytosis or non-Langerhans cell histiocytoses. These studies together suggest that ETV3-NCOA2 gene fusion may be a specific but nonsensitive marker for ICH.…”

Section: Discussionmentioning

confidence: 99%

An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis

Belina

Kwock²,

Al‐Rohil

et al. 2022

The American Journal of Dermatopathology

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Indeterminant cell histiocytosis (ICH) is a rare lymphoproliferative disorder that demonstrates features of Langerhans and non-Langerhans cell histiocytoses and diagnosis can be challenging. We present a case of a 62 year old woman with a generalized eruption of erythematous papules on the face, trunk and extremities. Skin biopsies demonstrated a dermal mononuclear cell infiltrate with monocytic (CD4, CD33), histiocytic (CD68, CD163), and dendritic cell (CD1a) immunophenotype but negative for Langerhans' cell marker (CD207). The differential diagnosis included leukemia cutis and ICH, and further workup revealed a normal bone marrow biopsy. To confirm the diagnosis of ICH, next generation sequencing with ETV3-NCOA2 gene fusion was performed and was positive. The patient's condition improved with methotrexate and narrow band UVB phototherapy. Our case adds to the existing literature supporting the use of next-generation sequencing to test for ETV3-NCOA2 gene fusion in suspected cases of ICH.

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Indeterminate cell histiocytosis in a Chinese patient with progressive and extensive nodular lesions and mixed indeterminate cell and macrophage‐monocyte lineage

Cited by 3 publications

References 38 publications

Indeterminate Cell Histiocytosis – Case Report and Review of Literature

Indeterminate Cell Histiocytosis – Case Report and Review of Literature

Indeterminate cell histiocytosis: A systematic review of the literature with a comprehensive revision of clinical, histopathological, and molecular features

An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis

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