Anatomic Pathology

A 75-year-old man presented with acute abdomen and was found to have significant induration of the common bile duct near cystic and common hepatic duct junction causing gallbladder hydrops. Cholecystectomy was performed. Grossly, there was no mass lesion in the gallbladder.

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Hee Eun Lee, M.D., Ph.D.
Fellow, Anatomic Pathology
Mayo Clinic
Photo of Lizhi Zhang, M.D. Lizhi Zhang, M.D.
Consultant, Anatomic Pathology
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

Biochemical Genetics

A 7-month-old male presented in the ED with head injury and seizure concerns. Bilateral subdural hemorrhages of different ages and multilayered intraretinal hemorrhages in both eyes were found, without bone fractures or cervical spine ligamentous injury. In addition, the patient had a rapid progression of macrocephaly. Analysis of urine organic acids revealed 2-hydroxyglutaric acid (2HGA) and 2-hydroxyglutaric lactone (2HGL) markedly elevated (Figure 1). The presence of either the D-form or the L-form of 2HGA was analyzed (Figure 2).

Figure 1
Figure 2

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Photo of Ester Perales Clemente, Ph.D. Ester Perales Clemente, Ph.D.
Fellow, Clinical Biochemical Genetics
Mayo Clinic
Photo of Piero Rinaldo, M.D., Ph.D. Piero Rinaldo, M.D., Ph.D.
Consultant, Lab Genetics and Genomics
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

Anatomic and Clinical Pathology—Case 1

26-year-old homeless man with history of substance abuse is found unresponsive on the street following a blizzard. He is in a partial state of undress with shirt removed and pants partially pulled down. Autopsy was notable for the presence of multiple superficial punctate gastric erosions (photo 1) and a pancreatic abnormality (photos 2 and 3). Toxicology was positive for methamphetamine in the blood.

Photo 1—Stomach
Photo 2—Pancreas (gross)
Photo 3—Acute Pancreatitis; 10x (left), 20x (right)

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Photo of Rachel K. Horton, D.O. Rachel Horton, D.O.
Resident, Anatomic and Clinical Pathology
Mayo Clinic
Photo of Peter T. Lin, M.D. Peter Lin, M.D.
Consultant, Anatomic Pathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

Anatomic and Clinical Pathology—Case 2

An 82-year-old male with well-controlled HIV and macrocytic anemia undergoes a bone marrow biopsy. The morphologic findings are subtle, including few slightly atypical eosinophils on peripheral blood, mild granulocytic hyperplasia, a single paratrabecular cluster of eosinophils, and few spindled mast cells. There is no overall marrow or blood eosinophilia. Karyotype detects a t(4;22)(q12;q11.2) clonal abnormality involving PDGFRA (4q12) by break-apart FISH. Mate pair sequencing demonstrates a fusion between the PDGFRA and SPECC1L genes.

Peripheral Blood
Aspirate
Aspirate and IHC
Bone Marrow Core

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Photo of Daniel (Dan) P. Larson, M.D. Daniel (Dan) P. Larson, M.D.
Resident, Anatomic and Clinical Pathology
Mayo Clinic
Photo of Pedro Horna, M.D. Pedro Horna, M.D.
Senior Associate Consultant, Hematopathology
Mayo Clinic
Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

Hematology

A 70-year-old female presented with refractory gross hematuria one day after uncomplicated cystoscopy and fulguration of a benign bladder mass. She was treated with continuous bladder irrigation, evacuation of blood clot, and transfused red blood cells.

Her only history of bleeding was menorrhagia in the setting of uterine fibroids. She denied epistaxis, melena, hematochezia, or prior history of hematuria. She also denied bleeding with prior surgical procedures.

Prior to surgery, labs demonstrated normal hemoglobin and platelet count.

Laboratory evaluation during hospital stay
Hemoglobin (Ref range: 12-15.0 G/dL 6.9
Platelets (Ref range: 150-450x109/L 195
APTT  (Ref range: 25-37 sec) 46
PT (Ref range:  9.4-12.5 sec) 11.2
VWF activity screen: Latex Immunoassay  (Ref range: 55-200%) 7
VWF activity: Ristocetin Cofactor (RCo) (Ref range: 55-200%) <12
VWF antigen (Ref range: 55-200%) 12
FVIII activity (Ref range: 55-200%) 10
VWF activity/antigen (≥0.7) 0.58
VWF multimers Plasma VWF multimers are abnormally distributed with decreased higher molecular weight multimers  (below)

Monoclonal Protein Study Positive for a monoclonal IgG lambda paraprotein

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Image of Meera Sridharan, M.D., Ph.D.
Resident, Special Coagulation
Mayo Clinic
Assistant Professor of Medicine and Oncology
Mayo Clinic College of Medicine
Image of William L. Nichols, Jr. M.D. William Nichols, Jr., M.D.
Consultant, Hematology
Mayo Clinic
Associate Professor of Laboratory Medicine and Pathology and Medicine
Mayo Clinic College of Medicine
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