Identification of JAK2 mutations in canine primary polycythemia

Beurlet, Stéphanie; Krief, Patricia; Sansonetti, Arnaud; Briend‐Marchal, Alexandra; Kiladjian, Jean‐Jacques; Padua, Rose Ann; Chomienne, Christine; Cassinat, Bruno

doi:10.1016/j.exphem.2011.02.003

Cited by 24 publications

(20 citation statements)

References 24 publications

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“…It is usually difficult to obtain a definitive diagnosis since the dog can remain asymptomatic for years [4]. As was the case here, where the dog had acute spastic tetraparesis and tachypnea, neurologic signs, which may also include seizures, ataxia, paraparesis, and collapse, can be observed on presentation [8] and can lead the clinician to initially suspect a neurologic disease.…”

Section: Discussionmentioning

confidence: 85%

“…This mutation occurs due to the substitution of a nucleotide at codon 617, leading to an active kinase and uncontrolled production of erythrocytes [4].…”

Section: Introductionmentioning

confidence: 99%

“…The hematocrit may be above 65%, indicating an increase in red blood cell mass [3]. It is caused by the exaggerated progenitor cell proliferation in the bone marrow, independent from physiologic stimuli and serum concentration of erythropoietin [4,5].…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis and Treatment of Primary Erythrocytosis in a Dog: A Case Report

Diogo

Fabretti

Camassa

et al. 2015

Topics in Companion Animal Medicine

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Section: Discussionmentioning

confidence: 85%

“…This mutation occurs due to the substitution of a nucleotide at codon 617, leading to an active kinase and uncontrolled production of erythrocytes [4].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Diagnosis and Treatment of Primary Erythrocytosis in a Dog: A Case Report

Diogo

Fabretti

Camassa

et al. 2015

Topics in Companion Animal Medicine

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“…In human beings, an underlying JAK2 mutation is frequently present, and the disease tends to follow an indolent course . A JAK2 mutation was also identified in a dog with polycythemia vera, but studies linking this mutation to myeloproliferative neoplasms in cats are lacking. The authors pursued a PCR assay for a JAK2 mutation commonly seen in human patients ( JAK2 V617F) with ET, with the intent to better characterize this cat's disease.…”

Section: Discussionmentioning

confidence: 99%

Suspected myelodysplastic/myeloproliferative neoplasm in a feline leukemia virus‐negative cat

Weeden

Taylor

Terrell

et al. 2016

Veterinary Clinical Pathol

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A 10-year-old castrated Domestic Short-Haired cat was presented to a primary care veterinarian for a wellness examination and laboratory examination for monitoring of diabetes mellitus. The CBC revealed marked thrombocytosis, leukopenia and macrocytic, normochromic anemia. The cat tested negative for FeLV and feline immunodeficiency virus, but was positive for Mycoplasma haemominutum by PCR. Hematologic abnormalities were not responsive to therapy, so a repeat CBC and a bone marrow aspiration for cytology were performed. Additional blood smear findings included anisocytosis with megaloblastic erythroid precursors, large platelets, eosinophilic myelocytes and metamyelocytes, and rare unidentified blasts. The bone marrow smear was highly cellular, and the cytologic pattern was consistent with myelodysplastic syndrome with an erythroid predominance. At that time, 15% blasts were present. The cat was treated with a vitamin K analog, doxycycline, and prednisolone, but without a clinical response. Within 3 months, euthanasia was elected due to declining quality of life, and a necropsy was performed. Postmortem bone marrow smears were highly cellular and dominated by monomorphic blasts of unknown line of origin (52%), persistent marked erythroid and megakaryocytic dysplasia, and ineffective erythropoiesis and granulopoiesis. Immunohistochemical, immunocytochemical, and cytochemical stains resulted in a diagnosis of acute myeloid leukemia of unclassified type. Additional histologic findings included mixed hepatitis with trematode infestation and lymphoplasmacytic interstitial nephritis with fibrosis. The marked thrombocytosis with myelodysplastic syndrome and the FeLV-negative status of this cat were unusual. The difficulty in classifying the myelodysplasia and subsequent leukemia highlights a need for further reporting and characterization of these types of disease.

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“…Detectouse uma mutação no gene JAK2 em cães com policitemia vera semelhante à de humanos. Essa mutação leva à ativação da quinase responsável pela elevação do hematócrtio (Beurlet et al, 2011).…”

Section: Introdução unclassified

Eritrocitose primária em cão: relato de caso

Gonçalves

Reggiani

Moreira

2018

Arq. Bras. Med. Vet. Zootec.

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RESUMOA eritrocitose absoluta primária, também denominada de policitemia vera, é um distúrbio mieloproliferativo crônico de causa desconhecida, caracterizado pela proliferação clonal de células-tronco eritróides neoplásicas. Acomete cães de meia-idade entre seis e sete anos. As manifestações clínicas mais comuns são letargia, fraqueza, poliúria, polidipsia, sangramentos como epistaxe, hematúria, hematoemese, hematoquezia, até mesmo convulsões e ataxia. O diagnóstico é baseado em valores altos de hematócrito, geralmente acima de 70%, excluindo-se as causas de eritrocitose secundária. As concentrações séricas de eritropoietina estão normais ou diminuídas. O tratamento consiste em flebotomia e administração de hidroxiuréia. Relata-se o caso de uma cadela, raça Bichon Frise, 11 anos, que, no início do quadro, apresentou hematócrito de 84%, letargia, ataxia, mucosas congestas, cianose de língua, poliúria e polidipsia. Realizou-se o tratamento com hidroxiuréia durante oito anos, na dose de 15 a 30 mg/kg, a cada 24 horas, sem ocorrência de efeitos colaterais ou recidiva das manifestações clínicas.Palavras-chave: cães, eritrocitose, hidroxiuréia ABSTRACT Primary absolute erythrocytosis, also termed polycythemia vera, is a chronic myeloproliferative disorder of unknown cause. It is characterized by clonal proliferation of neoplastic erythroid stem cells. It affects middle-aged dogs between 6-7 years. The most common clinical manifestations are lethargy, weakness, polyuria, polydipsia, and bleeding such as epistaxis, hematuria, hematoemese, and hematochezia. Seizures and ataxia are also common. Diagnosis is based on high hematocrit values, generally above 70% excluding the causes of secondary erythrocytosis. Serum concentrations of erythropoietin are at a normal level or decreased level. Treatments consists of hydroxyurea and phlebotomy management. It is reported that case of female Bichon Frise, 11 years old who onset of the disease had a hematocrit of 84%, lethargy, ataxia, congested mucous membranes, tongue cyanosis, polyuria and polydipsia. The treatment with hydroxyurea was performed for 8 years, at a dose of 15 to 20mg/kg, every 24 hours, without occurrence of side effects or recurrence of clinical manifestations.

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Identification of JAK2 mutations in canine primary polycythemia

Cited by 24 publications

References 24 publications

Diagnosis and Treatment of Primary Erythrocytosis in a Dog: A Case Report

Diagnosis and Treatment of Primary Erythrocytosis in a Dog: A Case Report

Suspected myelodysplastic/myeloproliferative neoplasm in a feline leukemia virus‐negative cat

Eritrocitose primária em cão: relato de caso

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