Trendy Genes
Acute myeloid leukemia and squamous cell carcinoma of the head and neck are the most common malignant processes associated with this autosomal recessive disorder resulting from germline variants in 21 different genes.
What is Fanconi Anemia?
This neoplasm is characterized by an accumulation of mature histiocytes in many different organs and associated with inflammation and fibrosis, with most cases having a gain-of-function somatic alteration activating the MAPK cell signaling pathway.
What is Erdheim–Chester disease (ECD) ?
This neoplasm is characterized by the presence of activating CSF3R mutations without morphological dysplasia or detectable BCR::ABL1.
What is chronic neutrophilic leukemia (CNL)?
Characterized by an exuberant T cell–mediated immune response to a variety of stimuli in genetically susceptible individuals, this entity is a self-limiting disorder characterized by lymphadenopathy with paracortical proliferation of immunoblasts, infiltration by histiocytes with characteristic nuclear features, and apoptosis or necrosis with abundant nuclear debris.
What is Kikuchi-Fujimoto disease?
This entity is classified as a circumscribed splenic tumor (often multiple) comprising variably-sized vascular channels lined by plump endothelial cells with ample eosinophilic cytoplasm; immunohistochemical confirmation of dual endothelial and histiocytic phenotype is helpful to confirm the diagnosis.
What is littoral cell angioma?
Richter transformation to diffuse large B-cell lymphoma (DLBCL) is most classically observed a progression from this dual entity.
What is chronic lymphocytic leukemia / small lymphocytic lymphoma?
Patients with this rare autosomal recessive disease show an increased frequency of chromosomal rearrangements that involve two different T-cell receptor loci (at 7p14, 7q34, or 14q11.2) and/or immunoglobulin (IG) loci (particularly IGH at 14q32).
What is ataxia–telangiectasia (AT)?
This disorder is characterized by myeloid dendritic cells with positive CD1a and CD207 expression and a lack high-grade cytological features.
What is Langerhans cell histiocytosis?
Biallelic (or multi-hit) TP53 loss of function is characteristic of this entity, which unfortunately confers a dismal prognosis, with a median survival time of 2–4 months.
What is acute erythroid leukemia (AEL)?
Infiltration of extranodal tissues by lymphoma cells with variable morphology, with angiocentric growth and necrosis, are hallmarks of this entity, the majority of which are positive for EBER.
What is extranodal NK/T-cell lymphoma?
This entity is classified as a a benign circumscribed parenchymal lesion comprising disorganized red pulp elements without well-formed white pulp.
What is splenic hamartoma?
This entity is regarded as mature B-cell neoplasm derived from lymphoid follicles and typically composed of small to medium-sized monomorphic cells expressing CD5, SOX11, and cyclin D1; it is associated with CCND-family rearrangements, most commonly CCND1.
What is mantle cell lymphoma (MCL)?
Of all of the RASopathies, this syndrome confers the highest incidence of myeloid malignancy.
What is Costello syndrome?
Characterized by nodal or extranodal accumulation of large, S100-positive histiocytes/macrophages that commonly exhibit emperipolesis, this disorder can often resolve spontaneously. (Maybe you should have been a Sternberg reader instead)
What is Rosai–Dorfman disease (RDD)?
By definition, this entity lacks immunotypic expression of cCD3, myeloperoxidase, B-cell markers, and markers of other unusual lineages.
What is acute undifferentiated leukemia (AUL)?
Often seen in patients of Asian descent, this entity is frequently associated with autoimmunity and seroreactivity to HTLV-1–related proteins, suggesting that chronic antigenic stimulation plays a central role in its pathogenesis.
What is T-large granular lymphocytic leukemia (T-LGLL)?
What is intranodal palisaded myofibroblastoma?
This neoplasm, which has several clinically-divergent subtypes, usually displays neoplastic cells that are small mature B cells typically negative for CD5 and CD10, and the lymphomas variably show plasmacytic differentiation, often associated with reactive follicles.
What is marginal zone lymphoma (MZL)?
Patients with this most common RASopathy are predisposed to developing juvenile myelomonocytic leukemia (JMML).
What is neurofibromatosis type 1 (NF1) ?
This disorder is generally confined to the skin, with a predilection for the head and neck, upper trunk, and proximal extremities.
What is juvenile xanthogranuloma (JXG)?
In classic cases, the presence of one of the five canonical RAS pathway mutations (KRAS, NRAS, PTPN11, NF1, CBL) facilitates the diagnosis of this entity.
What is juvenile myelomonocytic leukemia (JMML)?
The pathological T staging for this entity is as follows: T1 (tumor in fluid or confined to the inner surface of the capsule), T2 (superficial infiltration of the capsule), T3 (deep infiltration of the capsule by lymphoma cells admixed with inflammatory cells), and T4 (extension beyond the limits of the capsule into the soft tissue or into the breast parenchyma).
What is breast implant-associated anaplastic large cell lymphoma (BIA-ALCL)?
Derived from perivascular progenitors rather than hematopoietic precursors, the neoplastic cells of this entity display spindled, ovoid, or epithelioid cell morphology and are arranged in whorls, fascicles, syncytial sheets, and nodules in a storiform pattern.
What is follicular dendritic cell sarcoma?
This neoplasm is characterized by small B lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually involving the bone marrow and sometimes involving the lymph nodes and spleen. Waldenström macroglobulinaemia (WM) is defined by the combination of this entity in the bone marrow and an IgM monoclonal component in the peripheral blood.
What is lymphoplasmacytic lymphoma?
Due to their typically aggressive nature, RASopathy-associated myeloid neoplasms require this treatment as standard of care.
What is hematopoietic stem cell transplantation?
This disorder occurs in infants, who present with hepatomegaly and/or splenomegaly, severe anemia, and thrombocytopenia, in the absence of fever, and sometimes accompanied by coagulopathy.
What is ALK-positive histiocytosis?
Combination therapy with all-trans retinoic acid and arsenic trioxide (ATRA+ATO) without conventional chemotherapy is highly effective and largely curative for patients with low/intermediate-risk forms of this entity.
What is acute promyelocytic leukemia (APL) with PML::RARA fusion?
This entity is characterized as a lymphoproliferative disorder with adipotropism that is predominantly composed of activated cytotoxic medium-sized CD8+ lymphocytes expressing the TCRαβ heterodimer.
What is subcutaneous panniculitis-like T-cell lymphoma (SPTCL)?
Often asymptomatic, with 50–90% of cases detected incidentally by imaging studies, this entity is predisposed in females and presents as a single, well-circumscribed, round to bosselated mass, or it may be composed of multiple such lesions; surgery is curative with no recurrences or metastases reported.
What is sclerosing angiomatoid nodular transformation of spleen (SANT)?
The somatic genetic lesion underlying almost all cases (> 95%) of this entity is the activating BRAF p.V600E (Shaving cream not included).
What is hairy cell leukemia (HCL)?
Although the numbers of B cells and T cells are normal in this disorder, there are significant impairments in T-cell function as well as deficiencies of serum immunoglobulin class, leading to the impairment of the adaptive immune system.
What is Bloom syndrome?
This disorder is characterized by its high frequency of systemic dissemination, and most commonly occurs in elderly male patients in their seventh decade of life, often associated with a concurrent myelodysplastic or myeloproliferative neoplasm, or prior cytotoxic therapy for other malignancies.
What is blastic plasmacytoid dendritic cell neoplasm (BPDCN)?
A MYB::GATA1 fusion gene product that induces expression of IL-33 and nerve growth factor (NGF) promotes the development of this very rare entity, usually seen in infant males.
What is acute basophilic leukemia (ABL)?
The classic immunophenotype of this entity is: CD4−, CD5−, CD8−, CD56+/−; isochromosome 7q; trisomy 8; with in situ hybridization analysis for EBV-encoded small RNA (EBER) being negative.
What is hepatosplenic T-cell lymphoma?
This entity is composed of varying proportions of centrocytes and/or centroblasts (large transformed cells), with a dominance of centrocytes in the overwhelming majority of cases; its immunophenotype compatible with a germinal-center B-cell origin.
What is follicular lymphoma?