Pathology Notes

Cowden syndrome   Updated: 02/14/2020 © Jun Wang, MD, PhD General features Autosomal dominant most common De novo mutation occasionally More common in female Clinical presentations Mucocutaneous: Trichilemmomas , acral keratoses Breast: Breast cancer most common malignancy in patients with Cowden syndrome Thyroid: Multinodular goiter , Hashimoto thyroiditis , follicular adenoma , non-medullary carcinoma GU system: Renal cell carcinoma , Endometrial adenocarcinoma , uterine leiomyoma , testicle lipomatosis GI system: Esophageal glycogen acanthosis, Gastric and duodenal polyps, colon polyps, colorectal adenocarcinoma , Neurological: tumors including dysplastic gangliocytoma, vascular malformation, macrocephaly, mental retardation and developmental delay Immune dysregulation: B or T cell abnormalities including autoimmunity, thymus hyperplasia, etc Genetic abnormalities PTEN Diagnosis Individual diagnosis At least three major criteria (must includ...

Muir-Torre Syndrome   Updated: 01/28/20 © Jun Wang, MD, PhD General features Commonly autosomal dominant syndrome Combination of neoplasms of the skin and a visceral malignancy Likely a subtype of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome ) Clinical presentations Skin neoplasia Sebaceous adenoma /carcinoma Sebaceous epithelioma Keratoacanthoma Visceral malignancies Colorectal Endometrial Small intestine Urothelial Genetic abnormalities MSH2, most common Other DNA mismatch repair gene (MMR) MUTYH: Muir-Torre Syndrome II, autosomal recessive Diagnosis Clinical criteira, suspected if presents with one or more of the following   Sebaceous tumor <60 when first sebaceous tumor presents Personal or family history of Lynch-related tumors Tumor testing Immunohistochemistry for MMRs Microsatellite instability analysis MUTYH Germline mutation analysis: If tumor testing indicative of MMR mutation ...

Practice questions answers Myeloid neoplasms III © Jun Wang, MD, PhD 1. D. This patient has elevated red cell and platelet count with normal range white cells. Peripheral blood reveals immature red cells (upper right corner, adjacent to a neutrophil, and the two at lower left corner), but no blast is seen. Bone marrow has erythroid and megakaryocytic hyperplasia. This is most consistent with polycythemia vera , a type of myeloproliferative neoplasms . In order to make a diagnosis of polycythemia vera , essential thrombocythemia , or primary myelofibrosis , the presence of JAK2, CAL or MPL mutation needs to be demonstrated, and JAK2V617F is usually tested first. Splenomegaly in myeloproliferative neoplasms is caused by extramedullary hematopoiesis or functional hypersplenism, and sonographic exam and biopsy findings of spleen in myeloproliferative neoplasms are nonspecific. Cytogenetics studies can detect chromosome abnormalities, but not mutation. Myeloproliferative neoplas...