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Tag Archives: AMP molecular case reports

AMP case report: Potential von Hippel-Lindau syndrome in a patient with negative germline testing

CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Washington University School of Medicine in St. Louis. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: Identification of multiple germline cancer predisposing gene variants in a single patient during tumor sequencing analysis

October 2023—Next-generation sequencing of tumor tissue has important implications in solid and hematologic malignancies because it can identify genomic variants that provide diagnostic, prognostic, and predictive information to guide clinical management. Variants identified on tumor sequencing can be classified as somatic (acquired after conception) or inherited through germline.

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AMP case report: Lung micropapillary adenocarcinomas revisited

September 2023—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Henry Ford Hospital. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: Small intragenic structural variants in SATB2-associated syndrome

CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Washington University School of Medicine in St. Louis.

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AMP case report: A germline GATA2 c.121C>G (p.P41A) variant in a patient with an unusual acute promyelocytic leukemia

July 2023—A germline GATA2 c.121C>G (p.P41A) variant in a patient with an unusual acute promyelocytic leukemia CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Emory University School of Medicine. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: ETV6/FLT3 fusion gene detected in a patient with T-cell lymphoblastic lymphoma

April 2022—Genetic alterations of the gene FLT3, especially internal tandem duplications in the juxtamembrane domain and point mutations in the tyrosine kinase domain, are commonly seen in patients with newly diagnosed myeloid leukemias. However, chromosome rearrangements involving the FLT3 gene are extremely rare in hematologic malignancies. The FLT3 gene has only a few known partner genes, including the gene ETV6, which encodes a transcriptional repressor. ETV6 has a wide variety of translocation partner genes, several of which are tyrosine kinase genes.

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AMP case report: A case of a rare myeloid neoplasm presenting with features mimicking primary myelofibrosis

February 2022—Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders characterized by increased proliferation of myeloid cells of one or more lineage. The most common MPNs include chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). CML is defined by the BCR-ABL1 fusion, which typically results from the t(9;22)(q34;q11.2) rearrangement.

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AMP case report: Rhinoscleroma in Southern California—diagnosis made by multidisciplinary investigation

January 2022—A 33-year-old male with progressive hoarseness and shortness of breath was given a purported diagnosis of laryngeal papillomatosis and referred to our institution in November 2020 for a higher level of care. On presentation, the patient reported no recent upper respiratory infection-like systemic symptoms but had cough, nasal congestion, throat discomfort, dysphonia, and worsening dyspnea.

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AMP case report: Identification of encephalomyocarditis virus using metagenomic NGS in a patient with acute febrile illness

December 2021—Clinical metagenomic next-generation sequencing (mNGS), the comprehensive analysis of microbial and host genetic material (DNA and RNA) in patient samples, is increasingly available in clinical laboratories. At present, for various reasons including test complexity, cost, and turnaround time, this technology is generally limited to difficult-to-diagnose conditions where conventional microbiological testing methods may not lead to a definitive diagnosis in selected patients, such as those with meningoencephalitis of unknown etiology.

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AMP case report: A patient with an unexpected cancer predisposition syndrome—somatic tumor mutation testing and germline mutation testing complement each other

November 2021—Molecular analysis of advanced stage tumors has become the gold standard for identifying potential targetable mutations with high sensitivity, even in limited size tissue samples. However, when only tumor tissue is sequenced, it is difficult to differentiate between somatic mutations in the tumor cells versus constitutional (germline) mutations.

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AMP case report: Celiac genetic health risk screening by NGS in the family of a child with clinical findings of dermatitis herpetiformis and gluten sensitivity

August 2021—Dermatitis herpetiformis (DH) is an autoimmune skin disorder associated with celiac disease and characterized by pruritic, blistering lesions mainly on the elbows, knees, buttocks, lower back, and scalp. Immunopathogenesis is attributed to IgA TG3 antibody immune complexes in the papillary dermis originating from subclinical celiac disease in the gut. Onset occurs at any age, but DH is diagnosed most often in young adults and rarely in children. Individuals of northern European heritage represent the most frequently affected population for DH, with an estimated incidence reported by the National Organization for Rare Disorders of 75.3 per 100,000 people. First-degree family members of patients with DH are at increased risk for both DH and celiac disease.

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AMP case report: MYC amplification identified in an EML4-ALK-positive lung adenocarcinoma with primary resistance to targeted therapy

July 2021—The advent of genomically targeted therapy and immunotherapy has greatly altered the clinical management of advanced non-small cell lung cancer (NSCLC). Molecular testing is recommended for sensitizing EGFR mutations, ALK fusions, ROS1 fusions, BRAF V600E, NTRK fusions, RET fusions, and MET exon 14 skipping alterations.

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AMP case report: Adult B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like

April 2021—A 71-year-old female with a history of asthma and hypertension initially presented to her local hospital complaining of shortness of breath. She was found to be pancytopenic with severe anemia (hemoglobin 5 g/dL). She was subsequently transferred to a tertiary care facility for further evaluation. Bone marrow biopsy revealed a hypercellular marrow composed of 72 percent blasts. Flow cytometric analysis revealed a B-lymphoblast immunophenotype with expression of CD34, dim CD45, CD19, CD79a, CD22, HLA-DR, TDT, CD200, CD33, and dim CD13.

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AMP case report: A CLL/SLL case with distinctive molecular and cytogenetic changes during different stages of disease progression

March 2021—Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is one of the most common lymphoproliferative diseases. It is a CD5-positive B-cell neoplasm of monomorphic small mature B cells. One of the characteristics of CLL/SLL is its heterogeneity, not only among individuals but also within individual patients.1 The cytogenetic and molecular variants are dynamic during disease progression and in response to targeted therapies.

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AMP case report: 18-month-old female with poorly differentiated cerebellar tumor harboring BCOR internal tandem duplication

January 2021—Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR) is a rare and genetically distinct CNS neoplasm that occurs predominantly in the pediatric population. Previously, these tumors had been categorized as primitive neuroectodermal tumors of the central nervous system (CNS-PNET).

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AMP case report: A vanishing twin as an explanation for discordant fetal sex results with NIPS and ultrasound

December 2020—Circulating cell-free DNA in the blood of pregnant women is derived from both maternal tissues and the placenta.1 As a result, cfDNA isolated from maternal plasma can be used for noninvasive prenatal screening (NIPS) to identify fetal autosomal aneuploidies (trisomies 13, 18, and 21) and sex chromosome aneuploidies (SCAs). For fetal autosomal aneuploidies, NIPS offers higher detection rates and lower false-positive rates than traditional screening methods, such as maternal serum screening and nuchal translucency.2 NIPS is the only screening option available for SCAs, such as Turner syndrome (45,X) and Klinefelter syndrome (47,XXY), which do not pre­sent with ambiguous genitalia on fetal ultrasound.3

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AMP case report: Role of lymphoma sequencing panel in diagnosis of pediatric-type follicular lymphoma

November 2020—Pediatric-type follicular lymphoma (PTFL) is a rare form of lymphoma that was recognized as a new diagnostic entity in the revised 2016 WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. The classic features of PTFL include male predominance, localized stage I lymphadenopathy, blastoid morphology, high proliferation index, and exceedingly good response rate to local excision.

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AMP case report: TET2TET— reconciling conflicting genomic reports

October 2020—After 20 years of CAP advocacy, synoptic reporting in surgical pathology is ubiquitous. This came about in part by fiat and in part by all parties agreeing on the importance of standardization for patient care. The merits of some elements remain controversial. Molecular pathology, a newer discipline, does not offer the scope for creative writing once available in surgical pathology.

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AMP case report: Culture-negative endocarditis due to Tropheryma whipplei

September 2020—A 64-year-old male presented with worsening shortness of breath, dry cough, and bilateral leg edema. He had a history of diabetes mellitus type two, hypertension, seropositive rheumatoid arthritis, and tobacco and alcohol abuse. CT scan demonstrated bilateral pleural effusions, pulmonary edema, subsegmental atelectasis, mildly enlarged hilar lymph nodes, mild cardiomegaly with a small pericardial effusion, and liver cirrhosis with a liver nodule. A hepatitis panel demonstrated positive serology for hepatitis C virus infection.

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AMP case report: Burkitt-like lymphoma with 11q aberration

August 2020—Burkitt-like lymphoma with 11q aberration (BLL-11q) is a new provisional entity in the revised 2016 WHO classification of hematopoietic and lymphoid tumors.1 It refers to a subset of high-grade B-cell lymphomas that resemble Burkitt lymphoma with similar morphology, phenotype, and gene expression profiling, but lack MYC gene rearrangements. Instead, these lymphomas carry chromosome 11q proximal gains and telomeric losses, suggesting co-dysregulation of oncogenes and tumor suppressor genes.

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AMP case report: Unexpected diagnosis of indolent systemic mastocytosis through evaluation of NGS data

July 2020—A 77-year-old woman presented at our institution for care with a remote history of lymphoma. Three years earlier she had a bone marrow biopsy performed that by report showed five percent monoclonal kappa restricted plasma cells. At the initial presentation at our institution, serum protein electrophoresis and immunofixation showed an IgA kappa paraprotein (0.52 g/dL), and bone marrow biopsy showed less than five percent plasma cells by CD138 immunohistochemistry that were kappa light chain restricted by flow cytometry, with normal renal function and calcium level. A PET-CT indicated no lytic bone lesions. These findings confirmed the diagnosis of IgA kappa monoclonal gammopathy of undetermined significance (MGUS). Her past medical history was remarkable for chronic oral ulcers for five years of possible autoimmune etiology that were responsive to methylprednisolone, a stroke, hypertension, and hyperlipidemia.

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AMP case report: CCND1/IGH fusion amplification in a case of plasma cell myeloma

June 2020—A middle-aged adult presented with shortness of breath and bruising and was found to have leukopenia (WBC 4.16 K/mcL; normal range 4.50–11.00 K/mcL) and anemia (Hgb 7.6 g/dL; normal range 12–16 g/dL) with rouleaux. The hypercellular bone marrow core biopsy (80–90 percent cellularity) contained 90 percent plasma cells of variable morphology, some with prominent nucleoli and occasional binucleate forms.

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AMP case report: NGS as the tiebreaker in tumors with similar morphology and equivocal immunophenotype

May 2020—Traditionally, histopathologic diagnosis has been regarded as the gold standard for most disease processes including cancer. However, in certain circumstances, a final histopathologic diagnosis cannot be rendered despite extensive conventional ancillary testing such as immunohistochemistry. In recent years, molecular testing has revealed specific variant signatures for many tumors, which can be used to determine a final diagnosis.

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AMP case report: Advantages of SNP chromosomal microarray over conventional FISH and DNA tests for methylation-specific PCR-positive Prader-Willi syndrome

March 2020—Prader-Willi syndrome (PWS) is a rare genetic multisystem disorder with a reported incidence of approximately one in 15,000. It is characterized by severe infantile hypotonia with feeding problems, global developmental delay and mental deficiency, behavior problems, small hands and feet, hypogonadism and hyperphagia leading to marked obesity in early childhood, and a characteristic face.

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AMP case report: Frameshift and in-frame CALR exon 9 genetic alterations detected in a post-ET myelofibrosis patient before and after stem cell transplantation

February 2020—Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more of the myeloid lineages. Philadelphia chromosome-negative classical MPNs include polycythemia vera (PV), primary myelofibrosis (PMF), and essential thrombocythemia (ET).

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AMP case report: Use of MYD88 sequencing to confirm diagnosis of PIOL in a case with limited sample availability

October 2019—Primary intraocular lymphoma (PIOL) is a rare but aggressive B-cell malignancy usually considered as a subtype of primary central nervous system lymphoma. The most common form of PIOL is primary vitreoretinal lymphoma. PIOL is also known as the masquerade syndrome because it frequently mimics other ocular conditions such as chronic uveitis, which may be steroid-resistant. Its diagnosis is challenging and requires a high degree of suspicion. Here, we present a case of PIOL, the diagnosis of which was clinched based on the identification of a mutation in the myeloid differentiation factor 88 (MYD88) gene.

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AMP case report: NGS of a rare metastatic bladder adenocarcinoma

September 2019—Primary bladder adenocarcinoma is a rare vesicle malignancy accounting for up to two percent of malignant neoplasms of the bladder.1 They occur in males more than females and are classically seen in the fifth or sixth decade of life.2 Histologically they are of enteric, mucinous, or mixed types. Morphologically, the enteric type appears identical to a colonic adenocarcinoma and the mucinous type appears as neoplastic cells floating in pools of extravasated mucin. The mixed type is a mixture of the morphologies of the enteric and mucinous types. Immunohistochemically, adenocarcinomas of the urinary bladder classically express CK20 and CDX2.

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AMP case report: Coexisting somatic JAK2 V617F pathogenic variant and likely germline calreticulin exon 9 nonpathogenic variant in a patient with newly diagnosed ET

August 2019–Newly discovered pathogenic variants in BCR-ABL1-negative myeloproliferative neoplasms (i.e. polycythemia vera, essential thrombocythemia, primary myelofibrosis) led to recent revisions of the World Health Organization diagnostic criteria. Initially JAK2 V617F, MPL (MPL W515K/L), and calreticulin (CALR) exon 9 gene pathogenic variants were deemed mutually exclusive in patients with essential thrombocythemia and primary myelofibrosis. However, coexisting somatic variants in both JAK2 V617F and CALR have been reported with variable frequency, ranging from less than one percent and up to 6.8 percent depending on the employed molecular technique.

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AMP case report: Response to second-line osimertinib in primary EGFR p.T790M mutation

May 2019—Non-small cell lung cancer patients with epidermal growth factor receptor activating mutations have excellent response to oral therapy with EGFR tyrosine kinase inhibitors. However, development of resistance to first- and second-generation TKIs is a well-recognized phenomenon with acquired p.T790M mutation and accounts for most TKI drug resistance. Resistance to EGFR TKI therapy has been described in tumors with coexistent primary p.T790M mutation and an EGFR activating mutation in a small number of patients.

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AMP case report: Acute promyelocytic leukemia with cryptic t(15;17) identified by RT-PCR

April 2019—Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) in which promyelocytes predominate. APL accounts for about 10 percent of AML cases, and although APL can be diagnosed at any age, it is most common among young adults with a slight male predominance. APL is defined by the balanced reciprocal translocation (15;17)(q22;q21) between PML and RARA, although variant translocations involving RARA and other partner genes can occur.

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AMP case report: FDA-approved DNA blood test for colorectal cancer prompts patient to undergo colonoscopy

March 2019—Colorectal cancer is the third most diagnosed cancer and the second highest cause of cancer mortality in men and women, and in 2016 it accounted for about nine percent of all diagnosed cancers in the United States. When CRC is detected at an early localized stage, the five-year survival rate is 90 percent. With progression to regional disease, five-year survival remains high, at 71 percent.

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AMP case report: Identification by NGS of a diagnostic and theranostic mutation in a high-grade sarcoma of the humerus

January 2019—A 75-year-old woman with history of melanoma localized to the right forearm and status post excision six years prior presented with a two-month history of continuous left shoulder pain. She was managed initially with physical therapy and hydrocodone with no effect. Initial workup at an outside institution included an x-ray of the left shoulder that showed a destructive lytic lesion involving the proximal aspect of the left humerus associated with a pathologic fracture.

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AMP case report: Discordant IHC/PCR test results for mismatch repair status in colorectal adenocarcinoma

December 2018—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Duke University Medical Center. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: Detection of concurrent hematologic malignancies in solid tumor NGS testing may cause false-positive results

November 2018—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Weill Cornell Medicine.

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AMP case report: NGS in the diagnosis of RAS opathies in histologically uninformative skin biopsy samples

October 2018—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from the University of Washington, Seattle. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: Detection of rare deletion mutation in the alpha-globin gene locus establishes a diagnosis of Hb H disease

February 2018—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Quest Diagnostics. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: Follicular lymphoma of gallbladder, November 2017

November 2017—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Western University and London Health Sciences Centre, London, Ontario, Canada. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: Primary pulmonary adenocarcinoma with an unusual molecular profile of the EGFR gene at initial presentation, October 2017

October 2017—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from the University of Massachusetts Medical School-Baystate, Springfield. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: NGS panel aids in diagnosis of rare collision tumor, August 2017

August 2017—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Columbia University Medical Center. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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AMP case report: An unusual BRAF mutation in a patient with melanoma, February 2017

February 2017—An activating BRAF mutation is found in 40 to 60 percent of melanoma patients. BRAF (B-Raf proto-oncogene) encodes a protein-kinase that activates the MAP kinase/ERK signaling pathway, a pathway that regulates cell differentiation, growth, and survival. Another protein, NRAS, normally activates BRAF. A mutated BRAF, however, can act independently of NRAS and skew cell activity toward growth and survival and away from differentiation.

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AMP case report: Isolated hepatic neuroendocrine tumor expressing albumin mRNA and arginase-1, December 2016

December 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from the University of Pittsburgh Medical Center.

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AMP case report: Detection of cnLOH as a sole abnormality in the diagnosis of myelodysplastic syndrome, November 2016

November 2016—Copy neutral loss of heterozygosity (cnLOH) is an acquired abnormality found in patients with cancer and hematologic disorders and can be detected by molecular techniques such as PCR-based analyses and hybridization-based chromosome genomic array testing (CGAT). We report a case in which cnLOH was the sole abnormality detected by CGAT in a patient with myelodysplastic syndrome. This case illuminates the importance of utilizing CGAT results, namely cnLOH findings, as one of the primary diagnostic indicators in order to expedite initial therapies.

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AMP case report: October 2016 test yourself answers

November 2016—In the October 2016 issue was a report, “Laser capture microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection,” written by members of the Association for Molecular Pathology. Here are answers (in bold) to the three “test yourself ” questions that followed that case report.

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AMP case report: Laser capture microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection, October 2016

October 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from the University of Florida College of Medicine, Jacksonville.

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A new case of severe hemophilia and Moyamoya (SHAM) syndrome

August 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Columbia University Medical Center. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS

July 2016—Diamond Blackfan anemia is a rare, inherited bone marrow failure syndrome manifesting as marked red cell aplasia and variable congenital anomalies. We report here a case of Diamond Blackfan anemia, which underscores the role of an integrated diagnostic workflow including hematopathologic evaluation and next-generation sequencing for establishing the diagnosis and potential management of rare, inherited bone marrow failure syndromes.

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SS18-SSX2 fusion transcript in the diagnosis of a poorly differentiated synovial sarcoma

June 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Penn State Milton S. Hershey Medical Center and Penn State College of Medicine. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

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Metastatic cancer of unknown primary: diagnostic challenges

May 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. Case report No. 11, which begins here, comes from Cooper Medical School at Rowan University and Cooper University Hospital, Camden, NJ.

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Multiplex PCR test for detection of enteropathogens in an infant

December 2015—Clostridium difficile is an anaerobic spore-forming, Gram-positive bacteria transmitted by the fecal-oral route. The virulence of Clostridium difficile is primarily conferred from two toxins, A and B. Disruption of the normal gut flora, typically from intake of antimicrobials, allows Clostridium difficile to proliferate, causing a broad spectrum of clinical symptoms from asymptomatic colonization to colitis, a spectrum of diarrhea severity, and a protracted course of disease.

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Molecular techniques in a case of concurrent BCR-ABL1–positive CML and CMML

November 2014—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. Here, this month, is case No. 6. (See the February, August, and September 2013 and the May and June 2014 issues for the first five.) AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, treatment, and more. Case report No. 6 comes from UT-MD Anderson Cancer Center in Houston.

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Using molecular techniques to confirm donor-derived post-transplant lymphoproliferative disorder

June 2014—Post-transplantation lymphoprolif-erative disorders (PTLD) encompass a spectrum of neoplasms, ranging from benign hyperplasia to non-Hodgkin lymphoma and Hodgkin lymphoma. Epstein-Barr virus is postulated to play a key role in the pathogenesis of PTLD in patients who were previously EBV negative. This is a case report of a 52-year-old female, status post unrelated bone marrow transplant for myelofibrosis, who developed primary central nervous system diffuse large B-cell lymphoma, post-transplantation.

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Molecular assays in HIV-1 Dx and therapeutic monitoring

May 2014—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. Here, this month, is the fourth such case. (See the February, August, and September 2013 issues for the first three.) AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, treatment, and more. Case report No. 4 comes from the Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania.

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AMP case report: aCGH as a diagnostic aid in a childhood Spitzoid melanoma

September 2013—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. Here, this month, is the third such case. (See the February 2013 issue for the first, on multilocus sequencing for rapid identification of molds, and last month’s issue for the second, on the importance of screening for Lynch syndrome in patients with endometrial cancer.) 

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AMP case report: A 48-year-old woman with endometrial cancer. Importance of screening for Lynch syndrome in patients with EC

August 2013—Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes patients to multiple malignancies. LS has traditionally been thought of as a colorectal-cancer-dominated syndrome; however, the incidence of endometrial cancer in women with LS actually exceeds that of colorectal cancer. Here we report a case of a woman with metachronous colorectal cancer and endometrial cancer, with the goal of increasing awareness of the need to screen endometrial cancer patients for LS. Identifying these patients is important not only for the patient but also for other family members who would benefit from genetic counseling and surveillance for LS-associated malignancies.

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AMP case report: Multilocus sequencing for rapid identification of molds

February 2013—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers, starting this month. AMP members will write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, treatment, and more. We aim to publish a few a year. The first such report comes from the University of Washington Medical Center, Seattle. (If you would like to submit a case report, please e-mail the AMP at amp@amp.org. For more information about the AMP, visit www.amp.org.)

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