Cutaneous Myelofibrosis With JAK2 V617F Mutation: Metastasis, Not Merely Extramedullary Hematopoiesis!

Fraga, Garth; Caughron, Samuel K.

doi:10.1097/dad.0b013e3181d3ca2f

Cited by 13 publications

(33 citation statements)

References 23 publications

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“…Whereas a majority of cases reported have involved visceral organs, mesentery, and retroperitoneum, there are rare reported cases in the skin including one that arose in the setting of undiagnosed chronic myelogenous leukemia . There has been one other report of documented JAK2 V617F mutated PMF involving the skin; however, this case lacked features of SEMHT . We present the first molecularly annotated case of cutaneous myelofibrosis presenting as SEMHT in a patient with PMF and harboring the JAK2 V617F activating mutation in both the marrow and skin lesions.…”

mentioning

confidence: 88%

JAK2‐positive cutaneous myelofibrosis presenting as sclerosing extramedullary hematopoietic tumors on the scalp: case presentation and review of the literature

et al. 2015

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We report the second case of cutaneous myelofibrosis with a documented JAK2 activating mutation involving the scalp of a 67-year-old woman with primary myelofibrosis in her marrow. In contrast to the previous case, the biopsy revealed extensive lesional collagen deposition and closely mimicked a fibrohistiocytic proliferation. Similar rare lesions occurring in the setting of myeloproliferative neoplasms have been called sclerosing extramedullary hematopoietic tumors. These entities appear histomorphologically and etiologically distinct from extramedullary hematopoiesis, and their diagnosis should prompt the workup for a myeloproliferative neoplasm in the absence of an antecedent diagnosis. The presence of the JAK2 mutation in our case confirmed that the lesions represented skin involvement by a neoplastic myeloid proliferation and not compensatory extramedullary hematopoiesis. Our patient died of disease several months following the appearance of her lesions, which is in keeping with other reports that suggest that cutaneous myelofibrosis may serve as an independent poor prognostic sign in otherwise advanced primary myelofibrosis. A review of the literature further emphasizes the importance of distinguishing this entity from mesenchymal neoplasms and acute myeloid leukemia involving the skin.

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confidence: 88%

JAK2‐positive cutaneous myelofibrosis presenting as sclerosing extramedullary hematopoietic tumors on the scalp: case presentation and review of the literature

et al. 2015

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“…New evidence suggests that cutaneous EMH in chronic myeloid disease should be considered as metastasis of the abnormal neoplastic cells and subsequent differentiation along divergent myeloid lineages (9). Recent demonstration of the characteristic Janus kinase 2 gene mutation in the cutaneous lesion of a patient with primary myelofibrosis also supports the metastasis hypothesis (10). Poorly differentiated MS cases have scanty maturing cells.…”

Section: Discussionmentioning

confidence: 94%

Cutaneous myeloid sarcoma of the penile foreskin

Afrose¹,

Nebhnani²,

Wadhwa³

2013

TJPATH

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Myeloid sarcoma, considered to herald the onset of a blast crisis in the setting of chronic myeloproliferative neoplasm/dysplasia, typically presents during the course of the disorder. Cutaneous involvement is uncommon and lesions on genital skin are seldom seen. We present a case of a well-differentiated myeloid sarcoma in the penile foreskin in an apparently healthy 29-year-old male presenting with phimosis. The unusual composition of the inflammatory cell infiltrate, and characteristic sparing of dermal blood vessels, nerves and smooth muscle fibres led to the correct diagnosis. Absence of commonly observed changes in the circumcision skin like those of balanitis xerotica was also helpful. Detailed hematological work up revealed a previously undiagnosed chronic myeloid leukemia in chronic phase. The patient also had simultaneous priapism, another rare presentation of chronic myeloid leukemia. One year hence, the patient is in hematological remission with no evidence of extramedullary disease. Although priapism has been described as a rare presenting symptom in chronic myeloid leukemia, the present case is unique as this is the first time a cutaneous myeloid sarcoma has been documented in the penile foreskin.

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“…Shown here are multiple 2 to 4-mm purple blue fading papules predominantly localized to the posterior body surface fetal hemolytic conditions secondary to Rh isoimmunization, 6 ABO and other blood group incompatibilities, 7,8 hereditary spherocytosis, and twin to twin transfusion. 11 Blueberry muffin lesions are typically present at birth or appear within the first few days after birth. Although both dermal erythropoiesis and metastatic neuroblastoma infiltration have been reported to coexist in 1 patient, 9 the manifestations of extramedullary hematopoiesis vary from benign skin lesions to significant obstructive lesions involving organs such as the liver leading to cholestatic jaundice and coagulopathy.…”

Section: Discussionmentioning

confidence: 99%

Late-onset Blueberry Muffin Lesions Following Recombinant Erythropoietin Administration in a Premature Infant

Pandey

Dummula

Fraga

et al. 2012

Journal of Pediatric Hematology/Oncology

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Cutaneous Myelofibrosis With JAK2 V617F Mutation: Metastasis, Not Merely Extramedullary Hematopoiesis!

Cited by 13 publications

References 23 publications

JAK2‐positive cutaneous myelofibrosis presenting as sclerosing extramedullary hematopoietic tumors on the scalp: case presentation and review of the literature

JAK2‐positive cutaneous myelofibrosis presenting as sclerosing extramedullary hematopoietic tumors on the scalp: case presentation and review of the literature

Cutaneous myeloid sarcoma of the penile foreskin

Late-onset Blueberry Muffin Lesions Following Recombinant Erythropoietin Administration in a Premature Infant

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