Infantile hemangioma can rarely have systemic involvement with grim consequences. We present a case of infantile hemangioma with extensive cutaneous and multiple internal organs components that was so unrelenting and led to early infant death. The patient was a nearly 3-week-old Caucasian girl born at 37 weeks by spontaneous vaginal delivery. The pregnancy was complicated by "toxemia." At birth, cutaneous hemangiomas were noted on the neonate. The lesions progressively enlarged, and she later was brought to the emergency department with progressive abdominal distention at 17 days of age. An abdominal CT scan showed hepatomegaly with hypervascular masses, and the presumptive diagnosis was diffuse infantile hepatic hemangioma. In the PICU, abdominal compartment syndrome developed, and the neonate was also noted to have severe hypothyroidism. She was managed with propranolol, high-dose levothyroxine, steroids, and emergency decompressive fasciotomy and other support measures. Despite that, DIC and multiorgan failure ensued, and she eventually died of the disease within 4 days. An autopsy examination showed a female infant with multiple well-circumscribed, dark purple, cutaneous lesions on the face, scalp, torso, and extremities; she had an enlarged liver (413 g; expected weight, 123 g) occupying almost the entire abdominal cavity and containing multiple large, dark red, soft lesions measuring up to several centimeters in diameter and displacing almost the entire liver; similar lesions were also present in both adrenal glands. Microscopically, all of these lesions consisted of irregular, well-formed anastomosing vascular channels lined by a single row of plump endothelial cells characteristic of infantile hemangioma, and immunohistochemically, the lesions were remarkable for strong CD34 and GLUT1 staining. Hepatic infantile hemangioma is perhaps the most dreadful component of infantile hemangioma, especially the so-called diffuse type as occurred in this case. It is often accompanied by abdominal compartment syndrome and severe hypothyroidism caused by type 3 iodothyronine deiodinase secretion by the tumor. For this special clinical scenario, the recommended clinical algorithm calls for steroids and extremely high dose of levothyroxine for management and preparation for organ transplantation in the face of continuous deterioration.
Chronic neutrophilic leukemia (CNL) is a very rare form of chronic myeloid leukemia featuring progressive neutrophilia in the peripheral blood and an increased percentage of maturing neutrophil precursors in the bone marrow. Transformation to AML with antecedent myelodysplasia has been reported. The diagnosis is often challenging, as reactive neutrophilia and other myeloproliferative neoplasms must first be excluded. Furthermore, CNL shares many clinical, morphologic, and cytogenetic features with atypical CML (aCML) according to 2008 WHO criteria. Recent studies have identified oncogenic mutations in cases of CNL and aCML, including CSF3R and SETBP1. Mutations in exon 4 of CSF3R, designated as CSF3R T618I mutations, have been shown to be particularly sensitive and specific for CNL. Additionally, previous studies have shown that these mutations are prognostically important and have implications for chemotherapeutic regimens. We present the case of a 65-year-old woman undergoing treatment for breast carcinoma who developed a progressive neutrophilia. A bone marrow aspiration and biopsy were performed with findings most consistent morphologically with CNL. Cytogenetic studies revealed a normal female karyotype and there was no evidence of JAK2 mutation or BCR-ABL fusion. Trilineage dysplasia and an increasing blast percentage were noted, suggesting a transformation to AML. Molecular analysis performed on the bone marrow specimen revealed a CSF3R T618I mutation and a mutation in SETBP1, supporting the diagnosis of CNL. Chemotherapy was initiated, and treatment is currently ongoing.
Neoadjuvant chemotherapy (NACT) for breast cancer improves surgical options and provides valuable information on the primary tumor's response to chemotherapy. The aim of this study is to assess clinicopathologic features and molecular profiles of the pretreatment breast cancer to identify factors associated with tumor response to NACT. All surgical pathology reports of invasive breast carcinoma treated with NACT from 2007 to 2011 were reviewed. Histologic data (nuclear grade, histologic grade); tumor biomarker profile including estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (Her2), and Ki-67; and pathologic response to NACT were recorded. Tumor response was divided into complete pathologic response (pCR, no residual invasive tumor identified), partial response (pPR, residual invasive cancer identified), and no response (pNR, no change in tumor size/cellularity). Among 84 cases of invasive breast carcinoma treated with NACT, 21 had pNR, 46 had pPR, and 17 had pCR. While the majority of tumors with pNR (67%) and pPR (52%) were ER+/PR+/Her2-, the majority of tumors with pCR (70%) were ER-/PR-/Her2-. None of the tumors with histologic grade (HG) 1 and nuclear grade (NG) 1 had pCR; 10% of HG 2 and 32% of HG 3 had pCR; 9% of NG 2 and 27% of NG 3 had pCR. Ki-67 with a 10% cutoff did not seem to be associated with tumor response. Triple-negative breast cancers have a better overall response to NACT than other molecular profiles of breast cancer. ER-positive breast cancers and low histologic and nuclear grades are more likely to have a poor response to NACT. Ki-67 was not found to be associated with response to NACT.
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