Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations

Figures & data

Figure 1. Hematoxylin and eosin (H&E) stain of bone marrow biopsies (a, c). Immunohistochemical analysis of bone marrow demonstrating CD61+ (b, d). CP, chronic phase; AP, acceleration phase.

Table I. Clinical characteristics of essential thrombocythemia with coexisting CALR and MPL mutations at diagnosis.

Categories		This study	Partouche et al. [26]	Bernal et al. [27]
Sex		Woman	Woman	Man
Age (years)		67	23	75
WBC		3.18	12.0	NA
PLT		1097	1630	NA
Hb		115	NA	NA
Karyotype		Normal	Normal	NA
Splenomegaly		No	Yes	NA
CALR	Mutation	Type 2	Type 1	Type 1
	VF	27.8%	59.1%	30%
MPL	Mutation	S204P	W515 R	W515 L
	VF	71.5%	31.7%	11.75%
Treatment		HU and DCAG	HU and anagrelide	NA
Outcome		The disease progressed to an accelerated phase after 3.5 months. The patient died 25 months after diagnosis.	The disease progressed to myelofibrosis after 13 years.	NA

HU: hydroxyurea, WBC: white blood cell, Hb: hemoglobin, PLT: platelet, NA: not available.

Partouche N, Conejero C, Barathon Q, Moroch J, Tulliez M, Cordonnier C, Giraudier S. Emergence of MPLW515 mutation in a patient with CALR deletion: Evidence of secondary acquisition of MPL mutation in the CALR clone. Hematol Oncol. 2018;36(1):336–339. doi:10.1002/hon.2431.

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Bernal M, Jiménez P, Puerta J, Ruíz-Cabello F, Jurado M. Co-mutated CALR and MPL driver genes in a patient with myeloproliferative neoplasm. Ann Hematol. 2017;96(8):1339–1401. doi:10.1007/s00277-017-3023-9.

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