Home >> ALL ISSUES >> 2019 Issues >> AMP case report: Coexisting somatic JAK2 V617F pathogenic variant and likely germline calreticulin exon 9 nonpathogenic variant in a patient with newly diagnosed ET

AMP case report: Coexisting somatic JAK2 V617F pathogenic variant and likely germline calreticulin exon 9 nonpathogenic variant in a patient with newly diagnosed ET

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  • Here are three questions taken from the case report.
  • Answers
Answers are online at www.amp.org/casereports and will be published next month in CAP TODAY.

1. Which of the following statements is true regarding somatic CALR variants?
a. Variants are found in less than one percent of patients with essential thrombocythemia.
b. JAK2 V617F and CALR variants are mutually exclusive.
c. These are frameshift variants that interrupt the reading frame.
d. Patients have a more aggressive clinical course and increased thrombotic risk.

2. Which of the following would be considered a germline CALR variant?
a. 52-basepair deletion
b. 5-basepair insertion
c. 9-basepair deletion
d. 1-basepair deletion

3. Which of the following is true regarding germline CALR variants?
a. As the sole detected variant, they are not associated with myeloproliferative neoplasms.
b. They may be seen in conjunction with somatic JAK2 V617F or somatic CALR variants.
c. These are in-frame variants that preserve the reading frame.
d. All of the above.

1. Which of the following statements is true regarding somatic CALR variants?
a. Variants are found in less than one percent of patients with essential thrombocythemia.
b. JAK2 V617F and CALR variants are mutually exclusive.
c. These are frameshift variants that interrupt the reading frame.
d. Patients have a more aggressive clinical course and increased thrombotic risk.

2. Which of the following would be considered a germline CALR variant?
a. 52-basepair deletion
b. 5-basepair insertion
c. 9-basepair deletion
d. 1-basepair deletion

3. Which of the following is true regarding germline CALR variants?
a. As the sole detected variant, they are not associated with myeloproliferative neoplasms.
b. They may be seen in conjunction with somatic JAK2 V617F or somatic CALR variants.
c. These are in-frame variants that preserve the reading frame.
d. All of the above.

 

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