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ARE YOU ACTUALLY SUSPECTING A CHRONIC MYELOID LEUKEMIA WHEN ORDERING A BCR/ABL RT-PCR?
Author(s): ,
Lorena Abalo Perez
Affiliations:
Hematology Department,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
,
Carolina Guillén Rienda
Affiliations:
Hematology Department,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
,
Maria Sopeña Corvinos
Affiliations:
Hematology Department,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
,
Williana Melisa Torres Jimenez
Affiliations:
Hematology Department,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
,
Raquel Guillén Santos
Affiliations:
Head of the Laboratory,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
,
Jesus Villarrubia
Affiliations:
Hematology Department,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
,
Fernando Ataulfo Gonzalez Fernandez
Affiliations:
Hematology Department,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
Fernando Cava Valenciano
Affiliations:
Head of the Laboratory,Central Laboratory BRSalud Madrid. Infanta Sofía Hospital,Madrid,Spain
(Abstract release date: 05/18/17) EHA Library. Guilen Rienda C. 05/18/17; 182520; PB1806
Carolina Guilen Rienda
Carolina Guilen Rienda
Contributions
Abstract

Abstract: PB1806

Type: Publication Only

Background

Chronic myeloid leukaemia (CML) is a myeloproliferative neoplasm (MPN). It is characterized by a reciprocal t(9:22)(q34;q11.2) resulting in the fusion oncogene BCR/ABL in a hemopoietic stem cell. Clinical features are absent in nearly 20-40% of patients at diagnosis time. Hence, laboratory suspicion is crucial. Peripheral blood shows leukocitosis with left shift and “myelocyte bulge”, absolute eosinophilia, and absolute basophilia invariably present1-3. The demonstration of the Philadelphia (Ph) chromosome with cytogenetic analysis, or BCR/ABL fusion gene by qRT-PCR will confirm the diagnosis (typical CML).

Aims

In order to gain accuracy when BCR/ABL PCR is ordered, we review myeloproliferative hematimetric parameters, with special focus in basophilia, before performing molecular analysis.

Methods
We retrospectively reviewed 299 BCR-ABL PCR requests received at our laboratory between January 1, 2015 and January 1, 2017. 80% of the total requests were ordered by haematologists physicians, 13.46 % by other medical specialities (11.5% internal medicine) and 7.7% from the laboratory. Complete blood cell count (CBC) were analysed by ADVIA 2120. Neutrophilia was defined in our laboratory as absolute neutrophil count of >7.7x10 9/L, and basophilia was defined as absolute basophil count of > 0.2 x10 9/L. A total of 299 requests for PCR of BCR-ABL were reviewed by laboratory hematology staff, before performing them, according to 2008 WHO Classification of Hematologic neoplasms criteria. We reviewed clinical history, previous CBC and PBM if necessary for this screening. We performed 235 test (78.6%) and 64(21.4%) were considered inadequate according former criteria. qRT-PCR p210 was performed and if a negative result was obtained with high CML suspicion qRT-PCRp190 and qRT-PCRp230, such as cytogenetic studies were performed.The statistical analysis was performed with STATA.

Results

235 BCR/ABL by PCR tests were performed and 24 (10.21%) resulted positive. 167 (71.06%) were placed for neutrophilia; 41 (17.87%) for thrombocytosis and 26 (11.07%) for other criteria (eosinophilia, monocytosis, splenomegaly or combined).Among 24 positive cases 100% presented basophilia at diagnostic time and 91.66% (22/24) presented basophilia and neutrophilia. Two cases without neutrophilia at diagnosis were CML with extreme trombocytosis. We found 33 cases with basophilia among 235 patients. 24 cases (72.73%) were diagnosed of CML and 9(27.27%) resulted in other MPN Ph- or unclassifiable MPS/MDS neoplasm. Our results show that when CML is suspected, basophilia>0.3 x10 9/L has a 100% sensitivity and 95.75% specificity. ROC curve for basophilia as a screening test before performing BCR/ABL PCR is 0.984 (picture 1).

Conclusion

Our results show that basophilia should be carefully investigate when CML is suspected, with high sensibility (100%) and specificity (95.75%). In cases no CML with basophilia >0.3 x10 9/L, further investigation should be performed in order to diagnose a MPN Ph- or MDS/MPN.Even basophilia is well stablished as nearly universal in CML 1,3,4, this study reveals it is not always pursue enough, when clinicians ask for a molecular study.

Session topic: 7. Chronic myeloid leukemia - Biology

Keyword(s): Myeloproliferative disorder, Chronic myeloid leukemia, BCR-ABL

Abstract: PB1806

Type: Publication Only

Background

Chronic myeloid leukaemia (CML) is a myeloproliferative neoplasm (MPN). It is characterized by a reciprocal t(9:22)(q34;q11.2) resulting in the fusion oncogene BCR/ABL in a hemopoietic stem cell. Clinical features are absent in nearly 20-40% of patients at diagnosis time. Hence, laboratory suspicion is crucial. Peripheral blood shows leukocitosis with left shift and “myelocyte bulge”, absolute eosinophilia, and absolute basophilia invariably present1-3. The demonstration of the Philadelphia (Ph) chromosome with cytogenetic analysis, or BCR/ABL fusion gene by qRT-PCR will confirm the diagnosis (typical CML).

Aims

In order to gain accuracy when BCR/ABL PCR is ordered, we review myeloproliferative hematimetric parameters, with special focus in basophilia, before performing molecular analysis.

Methods
We retrospectively reviewed 299 BCR-ABL PCR requests received at our laboratory between January 1, 2015 and January 1, 2017. 80% of the total requests were ordered by haematologists physicians, 13.46 % by other medical specialities (11.5% internal medicine) and 7.7% from the laboratory. Complete blood cell count (CBC) were analysed by ADVIA 2120. Neutrophilia was defined in our laboratory as absolute neutrophil count of >7.7x10 9/L, and basophilia was defined as absolute basophil count of > 0.2 x10 9/L. A total of 299 requests for PCR of BCR-ABL were reviewed by laboratory hematology staff, before performing them, according to 2008 WHO Classification of Hematologic neoplasms criteria. We reviewed clinical history, previous CBC and PBM if necessary for this screening. We performed 235 test (78.6%) and 64(21.4%) were considered inadequate according former criteria. qRT-PCR p210 was performed and if a negative result was obtained with high CML suspicion qRT-PCRp190 and qRT-PCRp230, such as cytogenetic studies were performed.The statistical analysis was performed with STATA.

Results

235 BCR/ABL by PCR tests were performed and 24 (10.21%) resulted positive. 167 (71.06%) were placed for neutrophilia; 41 (17.87%) for thrombocytosis and 26 (11.07%) for other criteria (eosinophilia, monocytosis, splenomegaly or combined).Among 24 positive cases 100% presented basophilia at diagnostic time and 91.66% (22/24) presented basophilia and neutrophilia. Two cases without neutrophilia at diagnosis were CML with extreme trombocytosis. We found 33 cases with basophilia among 235 patients. 24 cases (72.73%) were diagnosed of CML and 9(27.27%) resulted in other MPN Ph- or unclassifiable MPS/MDS neoplasm. Our results show that when CML is suspected, basophilia>0.3 x10 9/L has a 100% sensitivity and 95.75% specificity. ROC curve for basophilia as a screening test before performing BCR/ABL PCR is 0.984 (picture 1).

Conclusion

Our results show that basophilia should be carefully investigate when CML is suspected, with high sensibility (100%) and specificity (95.75%). In cases no CML with basophilia >0.3 x10 9/L, further investigation should be performed in order to diagnose a MPN Ph- or MDS/MPN.Even basophilia is well stablished as nearly universal in CML 1,3,4, this study reveals it is not always pursue enough, when clinicians ask for a molecular study.

Session topic: 7. Chronic myeloid leukemia - Biology

Keyword(s): Myeloproliferative disorder, Chronic myeloid leukemia, BCR-ABL

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