Polycythemia vera in identical twins

Friedland, Michael; Wittels, Edward G.; Robinson, R.

doi:10.1002/ajh.2830100115

Cited by 15 publications

(4 citation statements)

References 3 publications

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“…[11][12][13][14][15] In a recent French study, 16 the authors described 72 families and indicated that, as suggested by previous observations, 1,17,18 JAK2 (V617F) is an acquired somatic mutation in a portion of patients with familial disorders.…”

Section: Discussionmentioning

confidence: 99%

JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders

Rumi

Passamonti

Pietra

et al. 2006

Cancer

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In a patient with suspected lymphoma, it is considered desirable to confirm the diagnosis by excisional biopsy of enlarged lymph nodes. However, sometimes the ideal nodes are positioned internally, requiring a deep invasive procedure for access, or the patient may have underlying medical conditions that make it risky to perform such an invasive procedure. Under a protocol approved by our institution's review board (IRB), we reviewed five patients in whom superficial lymph nodes were biopsied which were smaller than usually considered optimal for diagnosis (=2 cm). In each of these cases, the biopsy yielded diagnostic information upon which treatment could be based, sparing the patient a deep invasive procedure. We suggest that in situations in which large internal lymph nodes are not easily accessible and/or the patient's clinical situation precludes more invasive procedures, including deep core needle biopsy of a large mass, it is worthwhile to consider the removal of smaller, superficial lymph nodes with minimal risk which may suffice for diagnosis. © 2011 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders

Rumi

Passamonti

Pietra

et al. 2006

Cancer

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“…Before the discovery of JAK2 (V617F) mutations, few reports of families with CMD with a clinical phenotype mimicking sporadic CMD have been reported [90][91][92][93][94]. In detail, a study of six families with familial PV revealed an autosomal dominant inheritance with incomplete penetrance and excluded a linkage between PV phenotype and a number of candidate loci (9p, 20q, 13q, 5q, MPL, EPOR) [90].…”

Section: Genetic Background Of Familial Cmdmentioning

confidence: 99%

Familial chronic myeloproliferative disorders: the state of the art

Rumi

2008

Hematological Oncology

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Familial chronic myeloproliferative disorders are defined when in the same pedigree at least two relatives have a chronic myeloproliferative disorder (CMD) as polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF). This condition should be distinguished from inherited disorders with Mendelian transmission and single haematopoietic lineage proliferation, named hereditary erythrocytosis and thrombocytosis. The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. In familial CMD, the JAK2 mutations are acquired and occur as secondary genetic events. As both mutations of the JAK2 gene have been reported in the same pedigree, a genetic predisposition to the acquisition of the JAK2 mutations is supposed to be inherited. The prevalence of familial cases within CMD is at least 7.6%. The inheritance pattern of familial CMD is consistent with an autosomal dominant trait with decreased penetrance. The clinical presentation at diagnosis of patients with familial CMD does not differ from that of patients with sporadic CMD. In addition, patients with familial CMD develop the same type of complications (thrombosis and haemorrhage) and disease evolution (post-PV myelofibrosis, post-ET myelofibrosis and leukaemia) observed in patients with sporadic CMD. The 10-year survival is 83% for patients with familial PV, 100% for those with familial ET, and 30% for those with familial PMF. The aim of this review is to focus the state of the art of familial CMD and to offer an overview of inherited conditions causing erythrocytosis and thrombocytosis.

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“…Reports of PV in monozygotic twins and increased rate in family members hint at some genetic in¯uence [11,12]. Our patient's family members were asymptomatic and complete blood count tests were all normal.…”

Section: Discussionmentioning

confidence: 69%

POLYCYTHEMIA VERA IN A 12-YEAR-OLD GIRL: A Case Report

Türker

Özer

Öniz

et al. 2002

Pediatric Hematology and Oncology

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A case of a 12-year-old girl presenting with headache and splenomegaly and fulfilling the diagnostic criteria of polycythemia vera is reported. Her peripheral blood values were as follows: hemoglobin 18 g/dL, red blood cells 7,000,000/mm3, while blood cells 22,000/mm, and platelets 1,248,000/mm3. Phlebotomy was performed initially but was ineffective. Afterward 100 mg/kg per day aspirin and 30/mg/kg per day hydroxyurea were given. The patient has been asypmtomatic for 1 year and her recent hemoglobin level is 15.5 g/dL, platelet count 922,000/mm3, and white blood cell 12,800/mm3. Polycythemia vera is an extremely uncommon disease in childhood and for this reason its treatment is not well established.

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Polycythemia vera in identical twins

Cited by 15 publications

References 3 publications

JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders

JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders

Familial chronic myeloproliferative disorders: the state of the art

POLYCYTHEMIA VERA IN A 12-YEAR-OLD GIRL: A Case Report

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