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Article: Lab tests for MPN.

Moncada, Alice / Pancrazzi, Alessandro

International review of cell and molecular biology

2021 Volume 366, Page(s) 187–220

Abstract: Molecular laboratory investigations for myeloproliferative neoplasm (MPN) can ideally be divided into two distincts groups, those for the detection of the BCR-ABL rearrangement (suspect of chronic myeloid leukemia) and those for the variants ... ...

Abstract	Molecular laboratory investigations for myeloproliferative neoplasm (MPN) can ideally be divided into two distincts groups, those for the detection of the BCR-ABL rearrangement (suspect of chronic myeloid leukemia) and those for the variants determination of the driver genes of the negative Philadelphia forms (MPN Ph neg). The BCR-ABL detection is based on RT-Polymerase Chain Reaction techniques and more recently on droplet digital PCR (ddPCR). For this type of analysis, combined with chromosome banding analysis (CBA) and Fluorescent in situ hybridization (FISH), it is essential to quantify BCR-ABL mutated copies by standard curve method. The investigation on driver genes for MPN Ph neg forms includes activity for erythroid forms such as Polycythemia Vera (test JAK2V617F and JAK2 exon 12), for non-erythroid forms such as essential thrombocythemia and myelofibrosis (test JAK2V617F, CALR exon 9, MPL exon 10), for "atypical" ones such as mastocytosis (cKIT D816V test) and for hypereosinophilic syndrome (FIP1L1-PDGFRalpha test). It's crucial to assign prognosis value through calculating allelic burden of JAK2 V617F variant and determining CALR esone 9 variants (type1/1like, type2/2like and atypical ones). A fundamental innovation for investigating triple negative cases for JAK2, CALR, MPL and for providing prognostic score is the use of Next Generation Sequencing panels containing high molecular risk genes as ASXL1, EZH2, TET2, IDH1/IDH2, SRSF2. This technique allows to detect additional or subclonal mutations which are usually acquired in varying sized sub-clones of hematopoietic progenitors. These additional variants have a prognostic significance and should be indagated to exclude false negative cases.
MeSH term(s)	Calreticulin/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Mutation ; Myeloproliferative Disorders/genetics ; Receptors, Thrombopoietin/genetics ; Thrombocythemia, Essential/genetics ; Transcription Factors
Chemical Substances	Calreticulin ; Receptors, Thrombopoietin ; Transcription Factors
Language	English
Publishing date	2021-04-05
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2427220-6
ISSN	1937-6448 ; 0074-7696
ISSN	1937-6448 ; 0074-7696
DOI	10.1016/bs.ircmb.2021.02.010
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Article ; Online: Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response.

Pancrazzi, Alessandro / Ognibene, Agostino / Moncada, Alice / Torre, Valerio

Global medical genetics

2021 Volume 8, Issue 4, Page(s) 171–175

Abstract: ... ...

Abstract	Background
Language	English
Publishing date	2021-07-22
Publishing country	Germany
Document type	Journal Article
ZDB-ID	3009997-3
ISSN	2699-9404 ; 2699-9404
ISSN (online)	2699-9404
ISSN	2699-9404
DOI	10.1055/s-0041-1732481
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Article: Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response

Pancrazzi, Alessandro / Ognibene, Agostino / Moncada, Alice / Torre, Valerio

Global Medical Genetics

2021 Volume 08, Issue 04, Page(s) 171–175

Abstract: Background: The quality programs can be considered to be a valuable tool for global and individual growth. Each result, obtained by a single laboratory, contributes to define the standardization of the response. In the case of the uncommon epidermal ... ...

Abstract	Background: The quality programs can be considered to be a valuable tool for global and individual growth. Each result, obtained by a single laboratory, contributes to define the standardization of the response. In the case of the uncommon epidermal growth factor receptor (EGFR) mutations, the molecular result is sometimes difficult to interpret in terms of biological significance and therapy choosing. The standardization effort in the diagnostic lung setting also consists of active quality program participation. Materials and Methods: The quality control analysis, which is defined as a clinical case, was performed by the extraction of DNA from FFPE sections and by RT-PCR on the EGFR (exons 19, 20, 21), BRAF, and KRAS genes. The laboratory performed a validation sequencing of EGFR exon 20 with the help of the Sanger method. Results: The laboratory reported positivity for EGFR exon 20 insertions and negative results for BRAF and KRAS. The quality test finished with the redaction of a report containing the recommendation to consider the efficacy of therapy with tyrosine kinase inhibitors (TKI). This specific interpretation has determined poor performance judgment by the quality provider, which explained why most of these mutations are TKI-resistant. Conclusions: This experience provides an opportunity to reflect on the critical aspects of this diagnostic setting. The detection of some uncommon EGFR mutations should entail the mutation characterization, especially for the rare exon 20 insertions, of which are not classifiable as “resistant.” Moreover, this experience allows reflecting on the quality program design, mandatory actions for the laboratory, and routine activity in the oncologic multidisciplinary team.
Keywords	uncommon EGFR mutations ; TKIs ; quality programs
Language	English
Publishing date	2021-07-22
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	3009997-3
ISSN	2699-9404 ; 2699-9404
ISSN (online)	2699-9404
ISSN	2699-9404
DOI	10.1055/s-0041-1732481
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Article ; Online: Clonal architecture of JAK2V617F mutated cells during treatment with ruxolitinib.

Pacilli, Annalisa / Fanelli, Tiziana / Mannarelli, Carmela / Rotunno, Giada / Pancrazzi, Alessandro / Vannucchi, Alessandro Maria / Guglielmelli, Paola

Hematological oncology

2018 Volume 36, Issue 1, Page(s) 357–359

MeSH term(s)	Amino Acid Substitution ; Cells, Cultured ; Female ; Follow-Up Studies ; Humans ; Janus Kinase 2/genetics ; Janus Kinase 2/metabolism ; Male ; Mutation, Missense ; Myeloproliferative Disorders/drug therapy ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/metabolism ; Rituximab/pharmacology
Chemical Substances	Rituximab (4F4X42SYQ6) ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
Language	English
Publishing date	2018-02
Publishing country	England
Document type	Letter
ZDB-ID	604884-5
ISSN	1099-1069 ; 0278-0232
ISSN (online)	1099-1069
ISSN	0278-0232
DOI	10.1002/hon.2424
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Article ; Online: Elevated monocyte distribution width in COVID-19 patients: The contribution of the novel sepsis indicator.

Ognibene, Agostino / Lorubbio, Maria / Magliocca, Pasqualino / Tripodo, Emanuela / Vaggelli, Guendalina / Iannelli, Giovanni / Feri, Marco / Scala, Raffaele / Tartaglia, Alessandro Polcini / Galano, Angelo / Pancrazzi, Alessandro / Tacconi, Danilo

Clinica chimica acta; international journal of clinical chemistry

2020 Volume 509, Page(s) 22–24

Abstract: Introduction: Interesting results regarding the contribution of MDW (Monocyte Distribution Width) in the Infectious Disease Unit have been reported. An observational study is ongoing at San Donato Hospital with the aim to evaluate the contribution of ... ...

Abstract	Introduction: Interesting results regarding the contribution of MDW (Monocyte Distribution Width) in the Infectious Disease Unit have been reported. An observational study is ongoing at San Donato Hospital with the aim to evaluate the contribution of MDW in the diagnostic pathway in adult patients entering in the ED setting and tested for SARS-CoV-2. Material and method: COVID-19 symptomatic and paucisymptomatic patients presenting to ED (Emergency Department), have been enrolled consecutively. Whole blood venous samples have been collected on K2 EDTA for MDW determination, at the same time a nasopharyngeal swab for SARS-CoV-2 RNA detection have been collected. Results: One hundred six patients were negative for SARS-CoV-2 with MDW mean value of 20.3 ± 3.3, while forty-one were positive for SARS-CoV-2 with higher MDW mean value of 27.3 ± 4.9 (P < 0.005). The ROC curve analysis has been evaluated showing MDW AUC of 0.91. Finally twenty-three patients hospitalized in high-intensity care unit showed an MDW value higher than the eighteen patients presenting few symptoms [28.8 ± 5.3 vs 25.4 ± 3.6 respectively, P < 0.05]. Discussion: Monocytic population, in Covid19 disease, are the first elements of innate immunity to be involved, these changes are the basis of the modification of the MDW, with evident efficacy in term of sensitivity, particularly in the studied Covid19 patients. Moreover the patients hospitalized in high-intensity care unit showed significantly elevated MDW respects to middle or low symptomatic one, suggest including this parameter as prognostic marker or of therapy efficacy, integrated with other laboratory findings.
MeSH term(s)	Adult ; Aged ; Betacoronavirus/isolation & purification ; COVID-19 ; Cell Size ; Clinical Laboratory Techniques/methods ; Coronavirus Infections/blood ; Coronavirus Infections/diagnosis ; Female ; Humans ; Male ; Middle Aged ; Monocytes/metabolism ; Monocytes/pathology ; Pandemics ; Pneumonia, Viral/blood ; Pneumonia, Viral/diagnosis ; SARS-CoV-2 ; Sepsis/blood ; Sepsis/diagnosis
Keywords	covid19
Language	English
Publishing date	2020-06-03
Publishing country	Netherlands
Document type	Journal Article ; Observational Study
ZDB-ID	80228-1
ISSN	1873-3492 ; 0009-8981
ISSN (online)	1873-3492
ISSN	0009-8981
DOI	10.1016/j.cca.2020.06.002
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Article ; Online: BL-MOL-AR Project, Preliminary Results about Liquid Biopsy: Molecular Approach Experience and Research Activity in Oncological Settings.

Pancrazzi, Alessandro / Bloise, Francesco / Moncada, Alice / Perticucci, Roberta / Vecchietti, Stefania / Pompili, Francesca / Ricciarini, Francesca / Lenzi, Silvia / Gatteschi, Cristina / Giusti, Sabrina / Rosito, Maria Pia / Del Buono, Sabrina / Belardi, Paola / Bruni, Alessandra / Borri, Filippo / Campione, Andrea / Laurini, Lorella / Occhini, Rossella / Presenti, Loretta /

Viticchi, Viviana / Rossi, Maja / Bardi, Sara / D'Urso, Antonio / Dei, Simona / Venezia, Duccio / Scala, Raffaele / Bengala, Carmelo / Decarli, Nicola Libertà / Carnevali, Andrea / Milandri, Carlo / Ognibene, Agostino

Global medical genetics

2023 Volume 10, Issue 3, Page(s) 172–187

Abstract: ... ...

Abstract	Background
Language	English
Publishing date	2023-07-14
Publishing country	Germany
Document type	Journal Article
ZDB-ID	3009997-3
ISSN	2699-9404 ; 2699-9404
ISSN (online)	2699-9404
ISSN	2699-9404
DOI	10.1055/s-0043-1771193
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Article ; Online: Safety and efficacy of the maximum tolerated dose of givinostat in polycythemia vera: a two-part Phase Ib/II study.

Leukemia

2020 Volume 34, Issue 8, Page(s) 2234–2237

MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Carbamates/adverse effects ; Carbamates/therapeutic use ; Female ; Humans ; Janus Kinase 2/genetics ; Male ; Maximum Tolerated Dose ; Middle Aged ; Mutation ; Polycythemia Vera/drug therapy ; Polycythemia Vera/genetics ; Polycythemia Vera/psychology ; Quality of Life
Chemical Substances	Carbamates ; givinostat (5P60F84FBH) ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
Language	English
Publishing date	2020-02-11
Publishing country	England
Document type	Clinical Trial, Phase I ; Clinical Trial, Phase II ; Letter ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	807030-1
ISSN	1476-5551 ; 0887-6924
ISSN (online)	1476-5551
ISSN	0887-6924
DOI	10.1038/s41375-020-0735-y
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Article ; Online: Elevated monocyte distribution width in COVID-19 patients

Clinica Chimica Acta

The contribution of the novel sepsis indicator

2020 Volume 509, Page(s) 22–24

Keywords	Clinical Biochemistry ; Biochemistry ; Biochemistry, medical ; General Medicine ; covid19
Language	English
Publisher	Elsevier BV
Publishing country	us
Document type	Article ; Online
ZDB-ID	80228-1
ISSN	1873-3492 ; 0009-8981
ISSN (online)	1873-3492
ISSN	0009-8981
DOI	10.1016/j.cca.2020.06.002
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Article ; Online: Recommendations for molecular testing in classical Ph1-neg myeloproliferative disorders-A consensus project of the Italian Society of Hematology.

Guglielmelli, Paola / Pietra, Daniela / Pane, Fabrizio / Pancrazzi, Alessandro / Cazzola, Mario / Vannucchi, Alessandro M / Tura, Sante / Barosi, Giovanni

Leukemia research

2017 Volume 58, Page(s) 63–72

Abstract: The discovery that Philadelphia-negative classical myeloproliferative neoplasms (MPNs) present with several molecular abnormalities, including the mostly represented JAK2V617F mutation, opened new horizons in the diagnosis, prognosis, and monitoring of ... ...

Abstract	The discovery that Philadelphia-negative classical myeloproliferative neoplasms (MPNs) present with several molecular abnormalities, including the mostly represented JAK2V617F mutation, opened new horizons in the diagnosis, prognosis, and monitoring of these disorders. However, the great strides in the knowledge on molecular genetics need parallel progresses on the best approach to methods for detecting and reporting disease-associated mutations, and to shape the most effective and rationale testing pathway in the diagnosis, prognosis and monitoring of MPNs. The MPN taskforce of the Italian Society of Hematology (SIE) assessed the scientific literature and composed a framework of the best, possibly evidence-based, recommendations for optimal molecular methods as well as insights about the applicability and interpretation of those tests in the clinical practice, and clinical decision for testing MPNs patients. The issues dealt with: source of samples and nucleic acid template, the most appropriate molecular abnormalities and related detection methods required for diagnosis, prognosis, and monitoring of MPNs, how to report a diagnostic molecular test, calibration and quality control. For each of these issues, practice recommendations were provided.
MeSH term(s)	Humans ; Italy ; Molecular Diagnostic Techniques ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics
Language	English
Publishing date	2017-07
Publishing country	England
Document type	Consensus Development Conference ; Journal Article ; Review
ZDB-ID	752396-8
ISSN	1873-5835 ; 0145-2126
ISSN (online)	1873-5835
ISSN	0145-2126
DOI	10.1016/j.leukres.2017.04.006
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Article ; Online: Neutrophilic progression in a case of polycytemia vera mimicking chronic neutrophilic leukemia: clinical and molecular characterization.

Castelli, Roberto / Cugno, Massimo / Gianelli, Umberto / Pancrazzi, Alessandro / Vannucchi, Alessandro Maria

Pathology, research and practice

2015 Volume 211, Issue 4, Page(s) 341–343

Abstract: Background: In a small subset of polycytemia vera (PV), neutrophilia not secondary to reactive conditions or treatment can develop and persist. Clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well ... ...

Abstract	Background: In a small subset of polycytemia vera (PV), neutrophilia not secondary to reactive conditions or treatment can develop and persist. Clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined. Case report: An 81-year-old Caucasian woman, affected by polycytemia vera lasting 17 years, presented in March 2012 with hyperleukocytosis, absolute neutrophilia, and thrombocytosis despite hydroxyurea treatment. All other laboratory parameters were normal, except for an increased neutrophil alkaline phosphatase and lactate dehydrogenase. Reactive neutrophilia due to infection or neoplasia have been ruled out by a total body computerized tomography scan, and by low levels of C reactive protein. Re-evaluation of bone marrow showed hypercellular smears with expansion of granulopoiesis while immature granulocytes were <10% and myeloblasts were <1%. Bone marrow trephine biopsy showed hypercellular marrow, with panmyelosis, increased myeloid/erithroid ratio, polymorphic clusters of megakaryocytes. A loose network of reticulin fibers with many intersections was identified by means of Gomori's silver impregnation. There were no hybrid BCR/ABL gene transcripts of p210, p190 and p230, no mutations in platelet derived growth factor receptors alpha and beta. Flow cytometry on the aspirate showed that CD34+ CD117+ myeloblasts constituted less than 1% of total marrow nucleated cells, mature granulocytes demonstrated persistent expression of CD33. Mutational analysis of the gene CSF3R by PCR amplification revealed no alterations in exons 14-17, including codons 615 and 618. The case presented here represents a possible evolution of PV, albeit very rare. Conclusions: The condition described here differs from the CNL for the persistence of morphological pictures typical of myeloproliferative diseases, for absence of CSF3R gene mutations and for the hyper expansion of the mature granulopoietic series. The clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined.
MeSH term(s)	Aged, 80 and over ; Alkaline Phosphatase/genetics ; Biopsy ; Bone Marrow/pathology ; DNA Mutational Analysis ; Disease Progression ; Exons ; Female ; Humans ; L-Lactate Dehydrogenase/genetics ; Leukemia, Neutrophilic, Chronic/genetics ; Leukemia, Neutrophilic, Chronic/pathology ; Polycythemia Vera/genetics ; Polycythemia Vera/pathology ; Rare Diseases ; Receptors, Colony-Stimulating Factor/genetics
Chemical Substances	CSF3R protein, human ; Receptors, Colony-Stimulating Factor ; L-Lactate Dehydrogenase (EC 1.1.1.27) ; Alkaline Phosphatase (EC 3.1.3.1)
Language	English
Publishing date	2015-04
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	391889-0
ISSN	1618-0631 ; 0344-0338
ISSN (online)	1618-0631
ISSN	0344-0338
DOI	10.1016/j.prp.2014.10.004
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