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Noninvasive prenatal testing (NIPT) is a screening method used to detect the most common fetal aneuploidies using cell-free fetal DNA (cffDNA) obtained from maternal blood. Due to the high sensitivity and specificity, low false positive rate, and use as early as 10-weeks' gestation NIPT has been rapidly integrated into prenatal care. While NIPT is an excellent screening tool, the results can be influenced by many factors including placental mosaicism, maternal aneuploidy or mosaicism, and occult maternal malignancy. The diagnosis and treatment of malignancy during pregnancy present many challenges ranging from the use of imaging techniques to the delivery of optimal therapy, weighing the unique risks to both the mother and the fetus. We present a case of a 30-year-old woman diagnosed with Hodgkin lymphoma after NIPT and outline the challenges in diagnosis and treatment of malignancy occurring during pregnancy.

Cutaneous lymphoma is a broad term used to describe any type of lymphoma involving the skin. They may be primary, arising in the skin, or secondary, resulting from spread of a systemic lymphoma. Cutaneous involvement of mantle cell lymphoma (MCL) is extremely rare and most often occurs secondarily. To date, less than 100 cases of MCL involving the skin have been described in the English literature. We describe a case of MCL involving the skin as the clinical presentation of disease in a 74-year-old man and highlight the radiographic and pathologic findings, treatment course, and prognosis.

Malignant lymphocytic infiltration of the central nervous system (CNS) and peripheral nervous system (PNS) is diagnostically challenging and informs treatment and prognosis.We describe the clinical course of a 49-year-old man with CNS and PNS relapse of mantle cell lymphoma and the diagnostic modalities that enabled the diagnosis of neurolymphomatosis.This clinical phenotype reinforces previously reported presentations of neurolymphomatosis and the ability of multimodal diagnostics, when combined with clinical suspicion phenotype, to enable diagnosis of malignant lymphocytic infiltration of the CNS and PNS.

Acute myeloid leukemia may present with significant dysmyelopoiesis within the peripheral blood smear and bone marrow aspirate. In the setting of Vitamin B12 deficiency, proliferation of a clonal population of malignant cells can become impaired, masking an underlying myelodysplastic or leukemic process. Typically, the cautionary tale warns against diagnosing acute myeloid leukemia before ruling out Vitamin B12 deficiency. Here we describe a patient who initially presented with pancytopenia and Vitamin B12 deficiency who, upon supplementation, developed overt acute myeloid leukemia. This case will highlight the importance of cytogenetic and molecular studies as essential diagnostic tools in patients with unique presentations.

Atypical chronic myeloid leukemia, BCR-ABL1-negative (aCML), is a rare myelodysplastic/myeloproliferative neoplasm with heterogeneous clinical and genetic features, a high rate of transformation to acute myeloid leukemia (AML), and poor survival rate. The diagnosis of aCML is a diagnosis of exclusion and requires the fulfillment of strict diagnostic criteria. Until recently, there were no distinctive cytogenetic or molecular abnormalities for aCML adding to the diagnostic challenge. We present a case of aCML and highlight the pertinent clinical, morphological, and genetic features required for the diagnosis.

Acute myeloid leukemia (AML) is a group of diseases resulting from a clonal expansion of myeloid precursor cells in the bone marrow. Each subtype harbors characteristic clinical, morphologic, and molecular features. AML is most often de novo and arises from somatic mutations causing unchecked proliferation of myeloblasts, but it may also present as a secondary malignancy, often as the result of prior cytotoxic exposure. Here we present a case of therapy-related AML (t-AML) following chemotherapy exposure found to have a characteristic balanced translocation involving 11q23 and outline a potential mechanism of oncogenesis.

The surgeon’s role in the management of lymphoma is typically limited to performing biopsies for diagnosis. Most patients with lymphoma are treated with chemotherapy and/or radiation, but in rare cases, lymphoma can be primarily treated with surgery. We present a case of nodular lymphocyte-predominant Hodgkin lymphoma in a 4-year-old child with cervical adenopathy and discuss initial treatment with surgery alone. Surgery as primary treatment avoids the serious long-term sequelae of chemotherapy and radiation, and reserves those options for possible future recurrences; however, this approach should be reserved for patients with limited and low-risk disease. This case report reviews the pros and cons of treating early-stage nodular lymphocyte-predominant Hodgkin lymphoma in a pediatric patient with surgery alone.

Acute myeloid leukemia (AML) with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP is an uncommon subtype of AML accounting for less than 0.5% of AML cases. AML with t(8;16)/KAT6A-CREBBP has characteristic clinical and pathologic features including disseminated intravascular coagulation (DIC), leukemia cutis, hemophagocytosis, monocytic or myelomonocytic differentiation, is frequently associated with therapy-related AML and has a poor prognosis. We present a classic case of AML with t(8;16)/KAT6A-CREBBP occurring in a patient with both a germline NF1 mutation and recent cytotoxic therapy for embryonal rhabdomyosarcoma.

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 . 1

Acute myeloid leukemia (AML) is caused by the arrested differentiation and dysregulated proliferation of myeloid precursors. Many AMLs harbor genetic abnormalities which determine the molecular mechanisms of the disease and are associated with distinct clinical and pathological features, prognosis, and targeted therapies. We present a case of acute myeloid leukemia with t(6;9)(p23;q34.1) and review the classic clinical presentations and underlying pathogenesis of the disease.

Context.— One goal of the joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee is to ensure the accurate detection and description of chromosomal abnormalities in both constitutional and neoplastic specimens, including hematologic neoplasms. Objective.— To report a 20-year performance summary (1999–2018) of conventional chromosome challenges focusing on hematologic neoplasms. Design.— A retrospective review was performed from 1999 through 2018 to identify karyotype challenges specifically addressing hematologic neoplasms. The overall performance of participants was examined to identify potential recurring errors of clinical significance. Results.— Of 288 total conventional chromosome challenges from 1999–2018, 87 (30.2%) were presented in the context of a hematologic neoplasm, based on the provided clinical history, specimen type, and/or chromosomal abnormalities. For these 87 hematologic neoplasm challenges, 91 individual cases were provided and graded on the basis of abnormality recognition and karyotype nomenclature (ISCN, International System for Human Cytogenomic [previously Cytogenetic] Nomenclature). Of the 91 cases, 89 (97.8%) and 87 (95.6%) exceeded the required 80% consensus for grading of abnormality recognition and correct karyotype nomenclature, respectively. The 2 cases (2 of 91; 2.2%) that failed to meet the 80% consensus for abnormality recognition had complex karyotypes. The 4 cases (4 of 91; 4.4%) that failed to meet the 80% consensus for correct karyotype nomenclature were the result of incorrect abnormality recognition (2 cases), missing brackets in the karyotype (1 case), and incorrect breakpoint designation (1 case). Conclusions.— This 20-year review demonstrates clinical cytogenetics laboratories have been and continue to be highly proficient in the detection and description of chromosomal abnormalities associated with hematologic neoplasms.

Noonan syndrome (NS) is a relatively common autosomal dominant disorder with characteristic features and molecular alterations. The most common recurrent alteration is in the PTPN11 gene, a proto-oncogene that encodes a cytoplasmic receptor tyrosine phosphatase and helps regulate kinase activity and control cell survival and replication. Mutations in this gene can increase the risk for the development of multiple different malignancies, particularly hematopoietic. Here we present a case of NS with a PTPN11 mutation demonstrating the classic presentation of Noonan syndrome as well as the expected clinical follow-up.

Acute T-lymphoblastic leukemia (T-ALL) is a malignancy of immature T-cells in children and adults and although it occurs less frequently than B-ALL, it carries a worse prognosis, especially after relapse. Molecular characterization and subtyping of T-ALL has begun to reveal vital insights into the complex biology of T-ALL and has prognostic and therapeutic implications. We present a case of a 19-year-old male who was found to have an early cortical phenotype T-ALL with multiple cytogenetic and somatic mutations including t(10;14) TLX-1 translocation, 9p22 CDKN2A deletion and missense mutations in PHF6, NOTCH-1, and FBXW7. Characterization of the significance of these mutations reveals that PHF6 mutations occur more frequently in adult males in association with TLX-1 translocations and early cortical phenotypes with NOTCH-1 activating mutations. We show mechanistically that these alterations occur in concert with one another to drive cell growth, cell survival and cell cycle progression. While still in development, further characterization of T-ALL is essential to provide more prognostic and therapeutically useful information.

Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare soft tissue tumor that, despite its characteristic marked pleomorphism, is slow growing and of intermediate grade malignancy. PHAT is not known to metastasize, but is locally aggressive with a post-excision recurrence rate of up to 50%. Two other soft tissue tumors, hemosiderotic fibrolipomatous tumor (HFLT) and myxoinflammatory fibroblastic sarcoma (MIFS), share some morphological features with PHAT, and all three have been found to possess a t(1;10) translocation. Thus, it has been suggested PHAT, HFLT, and MIFS exist within a spectrum of a single entity; however, there is only one case of PHAT with a full cytogenetic profile and this showed the t(1;10). We report a case of PHAT with a complete cytogenetic profile differing from the previously reported case. Our case demonstrates 47,XY,+7,der(7)(qter::?::q31::?::pter::?::cen::?::pter::?::q31::?::qter)x2[20]/46,XY[10] karyotype with the typical morphologic features and immunohistochemical staining pattern seen in PHAT. This suggests that PHAT may be a distinctly separate entity and not within the spectrum of HFLT and MIFS.

Richter transformation (RT), or Richter syndrome, is defined as the transformation of chronic lymphocytic leukemia (CLL) to an aggressive B-cell lymphoma. The vast majority, up to 99%, transform into diffuse large B-cell lymphoma (DLBCL), with a small subset (

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 . 1

Current best practice in the quantitative analysis of microscopy images dictates that image files should be saved in a lossless format such as TIFF. Use of lossy files, including those processed with the JPEG algorithm, is highly discouraged due to effects of compression on pixel characteristics. However, with the growing popularity of whole-slide imaging (WSI) and its attendant large file sizes, compressed image files are becoming more prevelent. This prompted us to perform a color-based quantitative pixel analysis of minimally compressed WSI images. Sections from three tissues stained with one of three reagents representing the colors blue (hematoxylin), red (Oil-Red-O), and brown (immunoperoxidase) were scanned with a whole slide imager in triplicate at 20x, 40x, and 63x magnifications. The resulting files were in the form of a BigTIFF with a JPEG compression automatically applied during acquisition. Images were imported into analysis software, six regions of interest were applied to various morphological locations, and the areas assessed for the color of interest. Whereas the number of designated weakly or strongly positive pixels was variable across the triplicate scans for the individual regions of interest, the total number of positive pixels was consistent. These results suggest that total positivity for a specific color representing a histochemical or immunohistochemical stain can be adequately quantitated on compressed images, but degrees of positivity (e.g., weak vs. strong) may not be as reliable. However, it is important to assess individual whole-slide imagers, file compression level and algorithm, and analysis software for reproducibility.

The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with diverse biologic function. The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome.

Turner syndrome was first described to encompass a shared set of physical features displayed by a subset of female patients including short stature and lack of sexual development. Half of cases are due to complete loss of an X chromosome, while the remainder are due to other alterations of the X chromosome that disrupt genes necessary for normal physical and sexual development. The SHOX gene, located at Xp22.33, is essential for the growth and maturation of bone, while genes on Xq are important for ovarian function. Thus, loss of an X chromosome results in phenotypic short stature and amenorrhea typically seen in Turner syndrome. We present a unique case of Turner syndrome in a 16-year-old girl with primary amenorrhea and above-average height, in which karyotype revealed a derivative X chromosome resulting in partial Xp trisomy and partial Xq monosomy [46,X,der(X)(pter-q21.2::p11.23-pter)]. We hypothesize this unique karyotype explains the atypical phenotypic presentation of this patient.

Objectives: To describe three methods used to screen for frameshift mutations in exon 9 of the CALR gene. Methods: Genomic DNA from 47 patients was extracted from peripheral blood and bone marrow using the EZ1 DNA Blood Kit (Qiagen, Valencia, CA) and quantified by the Quant-iT PicoGreen dsDNA Assay Kit (Invitrogen, San Diego, CA). After clinical history, cytogenetics, and molecular tests, patients were diagnosed with either clonal or nonclonal hematologic diseases. CALR screening was primarily performed using fragment analysis polymerase chain reaction, then next-generation sequencing and Sanger sequencing. Results: Among the 18 patients diagnosed with clonal diseases, one had acute myeloid leukemia (positive for trisomy 8), and 17 had myeloproliferative neoplasms (MPNs), including chronic myeloid leukemia (CML), essential thrombocythemia (ET), primary myelofibrosis (PMF), and polycythemia vera (PV). Patients with CML were positive for the BCR-ABL1 fusion. Ten patients were positive for JAK2 (PMF, n = 1; ET, n = 2; PV, n = 7), and three were CALR positive (ET, n = 1; PMF, n = 2). Patients diagnosed with a nonclonal disease were negative for JAK2 , BCR-ABL , and CALR mutations. Conclusions: Screening for CALR mutations is essential in BCR-ABL –negative MPNs since it not only provides valuable diagnostic and prognostic information but also identifies potential treatment targets. Since this study describes the importance of screening for known and novel biomarkers, we described in detail three methods that could be easily integrated into a clinical laboratory.

Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of diffuse large B-cell lymphoma with an estimated incidence of less than one per million. Unlike other hematopoietic malignancies, lymphadenopathy and hepatosplenomegaly are uncommon, and patients typically present with nonspecific symptoms. IVLBCL presents a diagnostic challenge and patients are usually diagnosed late in the disease course, if at all, and the prognosis is poor. The differential diagnosis is broad, and physicians often pursue multiple diagnostic possibilities during patient workup. We present a case of IVLBCL discovered at autopsy in an 80-year-old male who presented with history and symptoms pointing to the tick-borne illness ehrlichiosis.

Soft tissue pathology encompasses a diverse range of benign and malignant soft tissue tumors. Definitive diagnosis is challenging due to the vast number of histologic subtypes (100) and the potential for overlapping clinical, radiographic, histologic, and/or immunohistochemical features. Many institutions have moved away from cytogenetic analysis in the workup of soft tissue tumors; however, specific non-random cytogenetic abnormalities are characteristic of various tumor types and can reveal or confirm the diagnosis in challenging cases. We present a diagnostically challenging case of myxoid liposarcoma initially considered to be reactive in nature and only correctly diagnosed when karyotype analysis revealed the characteristic t(12;16)(q13;p11.2), thus altering patient care and management.

While the complete form of trisomy 22 is seemingly incompatible with life, the mosaic form is a rare syndrome associated with developmental delays, intellectual disability, and dysmorphic features. Due in part to the difficulty of analyzing chromosomal mosaicism, many instances either go undiagnosed or have their diagnosis delayed. We report a case of mosaic trisomy 22 in a diamnionic-dichorionic twin with marked growth discordance and intra-uterine growth restriction, diagnosed in a 2-year-old with developmental delays, sensorineural hearing loss, cardiac and gastrointestinal abnormalities, and osteopenia of prematurity. Evaluation with a chromosomal oligonucleotide microarray with SNP analysis did not detect any copy number variants. Fibroblast metaphase karyotype analysis from a skin biopsy, however, showed trisomy 22 which was confirmed by FISH. Follow-up peripheral blood karyotype analysis and FISH studies revealed a normal male karyotype. This case highlights an instance where classical cytogenetics from two separate tissue types can provide a diagnosis that is more cost-effective than microarray analysis in assessing pediatric developmental delay. Trisomy 22 is the second most common aneuploidy in spontaneous miscarriages and has a nondescript and variable phenotype, especially in cases of mosaicism. As such, this condition may be underdiagnosed using the current recommended testing algorithm. Chromosomal microarray is considered first tier testing in an unrecognized phenotype with whole exome or whole genome sequencing, often performed on peripheral blood, as second tier testing. Diagnoses such as mosaic trisomy 22 suggest the second tier of testing in undiagnosed cases should also include a recommendation to look at alternative tissue types.

The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with a diverse biologic function. The transcription factors GATA1-3 function primarily to orchestrate hematopoiesis; however, they have roles in non-hematopoietic cells as well. Much of our current knowledge of the GATA transcription factors has come through observation of disease states with known GATA mutations. The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome. We present a case of a 19-year-old male with a history of pancytopenia and hypocellular bone marrow with dysplastic morphologic changes who underwent an extensive workup to determine an etiology. Molecular testing identified a germline GATA2 c.1081 CT heterozygous mutation, allowing his case to be classified as the World Health Organization (WHO) entity: myeloid neoplasm with germline GATA2 mutation.

Interphase fluorescence in situ hybridization (FISH) cutoff values are calculated using various mathematical methods to determine whether abnormalities seen are at reportable (statistically significant) levels. However, for interphase FISH studies of samples obtained from oncology patients who have been transplanted or treated, these cutoff values may result in reporting a false negative result due to the small percentage of residual disease that falls below such a cutoff value. Failure to detect the rare abnormal cells may impact patient care and prognosis. For such situations, the two questions are: is the disease still present, and if so, how prevalent is it? The first question is qualitative and the second is quantitative. Traditionally, only the quantitative parameters have been used for determining reportability. Here we propose a method to account for both qualitative and quantitative evaluations of interphase FISH results.

Background Diagnosing pancreatic ductal adenocarcinoma (PDAC) in the setting of metastasis with an unknown primary remains very challenging due to the lack of specific biomarkers. HNF-1B has been characterized as an important transcription factor for pancreatic development and was reported as a biomarker for clear cell subtype of PDAC. Methods To investigate the diagnostic role of HNF-1B for PDAC, we used tissue microarray (TMA) and immunohistochemistry (IHC) to characterize HNF-1B expression in a large cohort of carcinomas, including 127 primary PDACs, 47 biliary adenocarcinomas, 17 metastatic PDACs, and 231 non-pancreaticobiliary carcinomas. Results HNF-1B was expressed in 107 of 127 (84.3%) of PDACs, 13 of 15 (86.7%) of cholangiocarcinomas, 13 of 18 (72%) of ampullary carcinomas, and 13 of 14 (92.9%) of gallbladder adenocarcinomas. Notably, HNF-1B was expressed in 16 of 17 (94.1%) of metastatic PDACs. Among the non-pancreaticobiliary cancers, HNF-1B was expressed in ~ 77% clear cell carcinomas of the kidney and ovarian clear cell carcinomas. Gastroesophageal, lung, and prostate adenocarcinomas occasionally expressed HNF-1B in up to 37% cases. HNF-1B was completely negative in hepatocellular, colorectal, breast, and lung squamous cell carcinomas. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of HNF-1B for primary pancreaticobiliary carcinoma is 84, 68, 66, 85, and 75%, respectively. HNF-1B expression was not significantly associated with overall survival in patients with PDAC, but tumor size ≥2 cm and high tumor grade were significantly associated with worse overall survival in multivariate analyses. Conclusions HNF-1B may be used in surgical pathology to aid the diagnosis of metastatic pancreatic and biliary carcinoma with a panel of other markers to exclude lung, kidney, prostate, and Müllerian origins.

Lipoblastomas are benign tumors composed of fat cells of varying degrees of maturation, from lipoblasts to mature adipocytes. These tumors typically affect young children under the age of three. Upregulation of the pleomorphic adenoma gene 1 (PLAG1), located on 8q12.1, is the primary driving force for lipoblastoma development. The most common mechanisms for PLAG1 upregulation are rearrangements of 8q11-13 and polysomy 8. We present a unique case of lipoblastoma in a three-year-old boy with a ring chromosome 8. To the best of our knowledge, this cytogenetic finding has only been described three times in the literature. We present this case to further document this rare cytogenetic abnormality in lipoblastomas and hypothesize that the formation of a ring 8 chromosome results in a promoter swapping event.

Renal cell carcinoma (RCC) is a malignancy commonly encountered by both clinicians and pathologists. Different RCC subtypes are classified based on histologic features, immunohistochemistry profiles, and cytogenetic abnormalities. Accurate diagnosis of subtypes is important as it has prognostic and therapeutic implications. The most common RCC subtype is clear cell renal cell carcinoma (CCRCC); the most frequent genetic abnormalities associated with CCRCC are a deletion of the short arm of chromosome 3 involving 3p21 and mutations involving the Von Hippel-Lindau (VHL) gene. Advances in molecular pathology have identified additional molecular pathways leading to CCRCC. Researchers identified mutations of TCEB-1, monosomy 8, intact chromosome 3 and lack of VHL gene mutations in 4.7% of CCRCC. Additional evidence has been found recognizing RCC with monosomy 8 as a unique RCC subtype by describing cases with similar genetic profiles, non-specific immunohistochemistry, and histomorphology that overlapped with other known RCC types. At the University of Vermont Medical Center (UVMMC), conventional cytogenetics are obtained on all renal neoplasms. Three recent cases of RCC with monosomy 8, normal chromosome 3 morphology, clear cell cytology and non-specific immunohistochemistry profiles were identified. We present these cases to further document this unique subtype and highlight the importance of conventional cytogenetics in the diagnosis of renal cell carcinoma.

[Figure][1] A 20-year-old woman presented with anemia (Hgb 6.2 g/dL), circulating immature cells (80/cmm), and compression fractures of the thoracic and lumbar spine. Bone marrow biopsy was performed to evaluate for acute leukemia. Aspirate smears were hypercellular, showing large vesicular

Inactivation of genes in the transforming growth factor (TGF)-β/SMAD signaling pathway is a well-known step for the progression of colorectal cancers (CRCs). Genetic mutations can occur in the precursors, and the combined prevalence of SMAD4, SMAD2, and SMAD3 mutations was seen in up to 50% of CRCs. High levels of serum TGF-β1 were reported in patients with CRC and were associated with poor clinical outcome. PPM1A is an important inhibitory regulator in the TGF-β signaling pathway and contributes to terminating the TGF-β/SMAD signaling activity. We recently showed that PPM1A expression was lost in approximately 45% of pancreatic ductal adenocarcinomas and loss of PPM1A was associated with worse overall survival. Genome-wide analyses from The Cancer Genome Atlas revealed that abnormal TGF-β signaling pathway is among the most common molecular changes in CRC. The complexity of the TGF-β signaling pathway is its dual function as a tumor suppressor and tumor-promoting factor, depending on the cellular and molecular context. In this study, we simultaneously investigated the protein expression pattern of 3 regulators in the TGF-β/SMAD signaling pathway, including SMAD4, PPM1A, and TGF-β1, and their clinicopathological correlations in CRCs by immunohistochemistry. We observed that loss of SMAD4 and PPM1A was seen in 37.8% and 7.3% of CRCs, respectively. Loss of SMAD4, lymphovascular invasion, and distant metastasis were independently associated with worse overall survival in multivariate analysis. However, loss of PPM1A was associated with worse overall survival with less statistical strength. Our findings would provide new insights into the pathophysiological function of different components in the TGF-β signaling pathway in CRC.

[Figure][1] A 21-year-old man presented with immune thrombocytopenic purpura refractory to steroids and intravenous immunoglobulin. Imaging revealed mild splenomegaly without lesions. Laparoscopic splenectomy was performed for refractory thrombocytopenia. Gross examination showed a 250-g

Somatic mutations in myeloid malignancies correlate with WHO classification, help define genotype/phenotype relationships of clinical relevance, and are an essential part of the diagnostic algorithm. Current methods of detection are timely, costly, and labor intensive, and only assess single genes. The TruSight Myeloid Sequencing Panel (TSMSP) targets 54 genes frequently mutated in myeloid malignancies. This study evaluates the TSMSP. Eight …