21 June 2021: Textbook Updates

We have posted updates of the followingtopics:

Breast > Other benign tumors > Fibromatosis
by Carissa LaBoy, M.D., Kalliopi P. Siziopikou, M.D., Ph.D.
Topic summary: Low grade infiltrative spindle cell neoplasm composed of fibroblasts and myofibroblasts. Bland spindle cells arranged in long intersecting fascicles within a collagenous stroma. May be primary to the breast or be secondary extension into the breast from the chest wall. Up to 95% harbor CTNNB1 activating mutation (sporadic); APC gene inactivating mutation responsible for remainder of cases (hereditary). Can consequently occur after surgery, trauma or rarely, after breast implants. Locally aggressive, local recurrence rates reported in 29% to as high as 40 – 50% of cases after excision. Other treatment options include active surveillance for asymptomatic patients and systemic therapy, such as adjuvant radiation for patients with multiple recurrences.

CNS tumor > Neuronal and mixed neuronal-glial tumors > Diffuse leptomeningeal glioneuronal tumor
by Irfan Yasin, M.B.B.S., Katherine Schwetye, M.D., Ph.D.
Topic summary: Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an indolent, low grade neuroepithelial neoplasm that typically shows widespread leptomeningeal and superficial parenchymal CNS dissemination and oligodendroglioma-like cytology. Typically affects children; rare in adults. Presents with signs and symptoms of obstructive hydrocephalus. Widespread, diffuse involvement of spinal and intracranial leptomeninges. Precise etiology unknown, although recurrent genetic alterations are identified. Often acute, presents with signs and symptoms of increased intracranial pressure. Diagnosis primarily made on radiologic features. Mostly favorable prognosis in terms of mortality. Treatment: surgical resection, particularly for parenchymal lesions.

Kidney nontumor > Glomerular disease > Inherited glomerular disease > Congenital nephrotic syndrome
by Chunlai Zuo, M.D., M.S., Jonathan E. Zuckerman, M.D., Ph.D.
Topic summary: Congenital nephrotic syndrome (CNS) is caused by nephrin (NPHS1) mutations. Affects 1 – 3 per 100,000 live births worldwide. Nephrin is a transmembrane protein of the podocyte foot processes and is a main structural protein of the glomerular slit diaphragm. Heavy proteinuria, hypoproteinemia and edema starting soon after birth. Massive fluid retention and generalized swelling, hypertension and signs of malnutrition and failure to thrive. Typically develop end stage renal disease between ages 2 and 8. Supportive therapy: albumin infusion, gamma globulin replacement, high protein low salt diet, vitamin and thyroxine substitution and infections and thrombotic complications prevention.

Ovary > Serous tumors > Serous cystadenoma / adenofibroma
by Catherine J. Roe, M.D., Krisztina Hanley, M.D.
Topic summary: Benign partially or completely cystic lesion measuring > 1 cm in size and composed of cells resembling fallopian tube epithelium or cuboidal nonciliated epithelium resembling ovarian surface epithelium. Patients present over a broad age range. DNA copy number changes may be seen in stromal fibromatous cells and epithelial cells. Generally asymptomatic. Symptoms related to an ovarian mass; one of the more common ovarian tumors to undergo torsion. Diagnosis through cystectomy or oophorectomy. May recur after incomplete excision. Treatment: surgery (cystectomy or oophorectomy).

Stains & CD markers > Special AT-rich sequence-binding protein 2 (SATB2)
by Simona De Michele, M.D., Helen E. Remotti, M.D.
Topic summary: First identified in 2002 and characterized as a gene involved in cleft palate defects. Nuclear marker normally expressed by epithelium of the lower gastrointestinal tract, brain, nongerminal center lymphoid cells, ductal epithelium of the testis and epididymis. Critical role in neocortical and craniofacial development. Alterations of SATB2 gene (including intragenic duplication, deletions and point mutations in 2q32-q33) have been associated with SATB2 associated syndrome (SAS). Higher SATB2 expression is associated with better prognosis and response to chemotherapy in metastatic colorectal carcinomas.

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