المؤلفون: Liu, Xiaowei, Krishnamurthy, Kritika, Goldstein, D. Yitzchak

المصدر: Genetics in Medicine Open ; volume 2, page 101648 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101648Test
https://api.elsevier.com/content/article/PII:S2949774424007945?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007945?httpAccept=text/plainTest

المؤلفون: Krishnamurthy Kritika, Oh Kei Shing, Alghamdi Sarah, Sriganeshan Vathany, Poppiti Robert

المصدر: Pleura and Peritoneum, Vol 8, Iss 1, Pp 19-25 (2023)

مصطلحات موضوعية: brca, brca1, brca2, disorder of proteins, malignant mesothelioma, somatic variants, Medicine, Specialties of internal medicine, RC581-951

الوصف: The aim of this study is to analyze the prevalence of somatic mutations in BRCA1 and BRCA2 in malignant mesothelioma and their putative impact on protein properties.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2364-768XTest

الوصول الحر: https://doaj.org/article/d591d62bea0c455c9fa2d791e6bf89bdTest

المؤلفون: Krishnamurthy, Kritika, Edema, Ukuemi, Ustun, Berrin, Villanueva-Siles, Esperanza, Koehler, Steven M, Naeem, Rizwan, Wang, Yanhua, Goldstein, Doctor Y

المصدر: Journal of Surgical Case Reports ; volume 2023, issue 10 ; ISSN 2042-8812

مصطلحات موضوعية: Surgery

الوصف: PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity.

الإتاحة: https://doi.org/10.1093/jscr/rjad549Test
https://academic.oup.com/jscr/article-pdf/2023/10/rjad549/52137747/rjad549.pdfTest

المؤلفون: Krishnamurthy, Kritika, Stillman, Isaac E., Hecht, Jonathan L., Vyas, Monika

المصدر: International Journal of Gynecological Pathology; May2024, Vol. 43 Issue 3, p290-295, 6p

المؤلفون: Krishnamurthy, Kritika¹ (AUTHOR) kritikakrishnamurthy@yahoo.com, Chai, Jiani¹ (AUTHOR), Wang, Yanhua^1,2 (AUTHOR), Naeem, Rizwan¹ (AUTHOR), Goldstein, D Yitzchak^1,2 (AUTHOR)

المصدر: American Journal of Clinical Pathology. Feb2024, Vol. 161 Issue 2, p155-161. 7p.

مصطلحات موضوعية: *MYELOPROLIFERATIVE neoplasms, *POLYMERASE chain reaction, *GENE frequency, *NUCLEOTIDE sequencing, *DELETION mutation

مستخلص: Objectives The BCR::ABL1 negative myeloproliferative neoplasms are sequentially tested for JAK2 p.V617F, followed by CALR exon 9 pathogenic variants. Historically, these variants were thought to be mutually exclusive. However, recent reports indicate coexisting JAK2 p.V617F and CALR exon 9 somatic variants. Methods Analysis of JAK2 p.V617F and CALR exon 9 variant was performed by polymerase chain reaction (PCR)–based assays. Subsequent testing was performed on the Genexus integrated sequencer (ThermoFisher) using the Oncomine myeloid assay GX v2. Results CALR exon 9 variants were positive in 3 cases, while 2 were positive for JAK2 p.V617F on PCR-based assays. Next-generation sequencing confirmed the JAK2 P.V617F status in all cases. CALR variants resulting in in-frame deletions were identified in 2 cases at a variant allele frequency of 52.16% and 50.91%, while the third case had an intronic CALR variant c.-48G>A at a variant allele frequency of 51.1%. Thus, CALR variants in all 3 cases were interpreted as potentially germline. Of the 228 cases that underwent JAK2 p.V617F and CALR cotesting in the past 2 years, only these 2 cases were positive for both JAK2 p.V617F and CALR exon 9 variants. Conclusions These cases highlight the importance of understanding the pitfalls of molecular techniques in current practice. [ABSTRACT FROM AUTHOR]

المؤلفون: Krishnamurthy, Kritika¹ (AUTHOR), Choudhuri, Jui¹ (AUTHOR), Ramesh, K. H.^1,2 (AUTHOR), Wang, Yanhua^1,2 (AUTHOR)

المصدر: Case Reports in Hematology. 12/26/2023, p1-5. 5p.

مصطلحات موضوعية: *ACUTE promyelocytic leukemia, *LITERATURE reviews, *NEUTROPHILS, *GENETIC testing, *DIAGNOSIS

مستخلص: Acute promyelocytic leukemia (APL) is characterized by the pathogenic driver fusion transcript PML-RARA resulting from the t(15;17) translocation. Early recognition of APL with prompt ATRA induction has a decisive impact on the early death rate. The preliminary diagnosis of APL relies heavily on cytomorphology and flow cytometry. In APL with variant morphology, such as the microgranular variant, immunophenotype, especially the bright MPO positivity is the basis of diagnosis. Till date, only five cases of APL with reduced/absent MPO have been described in literature. The identification of MPO deficiency based on genetic testing would involve at the least a MPO gene scanning with NGS, followed by microarray to identify somatic uniparental disomy in heterozygotes. This testing is not only redundant given the scant clinical implications of heterozygous MPO deficiency but also time consuming. An easy way to identify background MPO deficiency confounding the immunophenotype of a myeloid neoplasm is the MPO expression in background neutrophils gated on the initial flow cytometry. A dim MPO in the background neutrophils, in the morphological setting of APL, can identify underlying MPO deficiency, clarifying the immunophenotypic ambiguity and thus establishing an unequivocal diagnosis as seen in the current case. [ABSTRACT FROM AUTHOR]

المؤلفون: Krishnamurthy, Kritika, Sriganeshan, Vathany, Medina, Ana Maria

المصدر: Journal of Hematopathology ; volume 14, issue 1, page 69-73 ; ISSN 1868-9256 1865-5785

مصطلحات موضوعية: Hematology, Histology, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1007/s12308-020-00432-6Test

المؤلفون: Krishnamurthy, Kritika, Lindsey, Allison M, Estrada, Christie-Anne, Martinez, Camila C, Cusnir, Mike, Schwartz, Michael, Sriganeshan, Vathany, Poppiti, Robert

المصدر: Cancer Treatment and Research Communications ; volume 25, page 100238 ; ISSN 2468-2942

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1016/j.ctarc.2020.100238Test
https://api.elsevier.com/content/article/PII:S2468294220300733?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468294220300733?httpAccept=text/plainTest

المؤلفون: Krishnamurthy, Kritika¹ (AUTHOR) kritikakrishnamurthy@yahoo.com, Merkulova, Yekaterina¹ (AUTHOR), Guzman-Arocho, Yaileen¹ (AUTHOR), Rosen, Seymour¹ (AUTHOR), Sun, Yue¹ (AUTHOR)

المصدر: International Journal of Surgical Pathology. Aug2023, Vol. 31 Issue 5, p866-871. 6p.

مصطلحات موضوعية: *SMOOTH muscle, *CELL differentiation, *ADENOMATOID tumors, *HISTOGENESIS, *SMOOTH muscle tumors

مستخلص: Leiomyoadenomatoid tumors of the epididymis are exceedingly rare biphasic tumors composed of an adenomatoid component in the form of gland-like structures lined by single flat or cuboidal cells admixed with smooth muscle. Radiological and gross findings cannot distinguish leiomyoadenomatoid tumors from the more common classic adenomatoid tumors or leiomyomas, and careful microscopic examination is critical in the identification of this esoteric variant. The histogenesis of this entity remains ambiguous. Common hypotheses include a collision tumor, a variant of an adenomatoid tumor with a smooth muscle component, or an adenomatoid tumor arising in the background of reactive smooth muscle hyperplasia. We present 2 cases of leiomyoadenomatoid tumors with diffuse nuclear WT1 positivity in both the adenomatoid and smooth muscle components, supporting the mesothelial origin of these tumors. [ABSTRACT FROM AUTHOR]

المؤلفون: Krishnamurthy, Kritika, Chai, Jiani, Wang, Yanhua, Naeem, Rizwan, Goldstein, D Yitzchak

المصدر: American Journal of Clinical Pathology ; volume 161, issue 2, page 155-161 ; ISSN 0002-9173 1943-7722

الوصف: Objectives The BCR::ABL1 negative myeloproliferative neoplasms are sequentially tested for JAK2 p.V617F, followed by CALR exon 9 pathogenic variants. Historically, these variants were thought to be mutually exclusive. However, recent reports indicate coexisting JAK2 p.V617F and CALR exon 9 somatic variants. Methods Analysis of JAK2 p.V617F and CALR exon 9 variant was performed by polymerase chain reaction (PCR)–based assays. Subsequent testing was performed on the Genexus integrated sequencer (ThermoFisher) using the Oncomine myeloid assay GX v2. Results CALR exon 9 variants were positive in 3 cases, while 2 were positive for JAK2 p.V617F on PCR-based assays. Next-generation sequencing confirmed the JAK2 P.V617F status in all cases. CALR variants resulting in in-frame deletions were identified in 2 cases at a variant allele frequency of 52.16% and 50.91%, while the third case had an intronic CALR variant c.-48G>A at a variant allele frequency of 51.1%. Thus, CALR variants in all 3 cases were interpreted as potentially germline. Of the 228 cases that underwent JAK2 p.V617F and CALR cotesting in the past 2 years, only these 2 cases were positive for both JAK2 p.V617F and CALR exon 9 variants. Conclusions These cases highlight the importance of understanding the pitfalls of molecular techniques in current practice.

الإتاحة: https://doi.org/10.1093/ajcp/aqad122Test
https://academic.oup.com/ajcp/article-pdf/161/2/155/56529304/aqad122.pdfTest